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Hirschsprung’s disease

Apr 24, 2025 Posted by admin Gastroenterology 0 comments

Overview

Hirschsprung’s disease is a condition that affects the large intestine (colon) and causes problems with passing stool this disease is also known as congenital megacolon. This condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon. Without these nerve cells stimulating gut muscles to help move contents through the colon, the contents can back up and cause blockages in the bowel. If the baby has Hirschsprung’s disease, poop moves through their intestines until it reaches the section that’s missing nerve cells. Once the poop reaches that point, it moves slowly or stops (constipation). There’s no cure for Hirschsprung’s disease, but surgical treatment often results in a positive outcome. There are two types of surgeries to treat Hirschsprung’s disease: a pull-through procedure and an ostomy. Without treatment, Hirschsprung’s disease can cause serious complications. If everything goes well, your baby will feel much better a few days after surgery. No one can prevent Hirschsprung’s disease. If you have the disease or a family history of it, you may want to meet with genetic counselors before starting a family.

Symptoms

Some babies with Hirschsprung’s disease have blocked intestines at birth. There’s a chance your baby has Hirschsprung’s disease if they don’t poop within 48 hours after birth.

Other symptoms of Hirschsprung’s disease in babies may include:

Swollen belly.
Constipation.
Vomiting.
Diarrhea.
Lack of appetite (refusing to eat) and poor weight gain.
Delayed growth.

Causes

It’s not clear what causes Hirschsprung’s disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation. During fetal development, neural crest cells typically grow from the top of the small intestine through the large intestine to the anus. In children with Hirschsprung disease, these nerve cells stop growing in the large intestine before reaching the anus.

Diagnosis and Tests

The physician will check the baby belly to see if it’s swollen and painful. Then they’ll check your baby’s rectum for backed-up poop, also perform one or more of these tests:

X-ray: Abdominal X-rays can show a blockage in your baby’s intestine.
Contrast enema: A healthcare provider inserts a catheter (a thin tube) through your baby’s rectum. The catheter fills their intestine with contrast, a safe liquid. A technician takes X-rays as the contrast travels through your baby’s intestine. This exam shows if there are any blockages or narrowing in your child’s intestines.
Biopsy: Your baby’s healthcare provider uses a special device to remove a small amount of tissue (biopsy) from your baby’s rectum. A pathologist then looks at the tissue under a microscope to check for nerve cells. This procedure isn’t painful and doesn’t require anesthesia.

Treatment

There are two types of surgeries to treat Hirschsprung’s disease: a pull-through procedure and an ostomy.

Pull-through procedure

A surgeon removes the section of your baby’s large intestine that’s missing nerve cells. Then they connect the healthy part of your baby’s large intestine to their anus. The surgeon may use laparoscopic or traditional surgery to perform the pull-through procedure.

The pull-through procedure is the most common surgery for Hirschsprung’s disease and has the best outcome for recovery.

Ostomy surgery

Your baby may need a colostomy (large intestine) or ileostomy (small intestine) before, or at the same time as, a pull-through procedure.

During ostomy surgery, surgeons connect the large or small intestine to the skin outside your baby’s belly. Ostomy surgery allows poop to leave your baby’s body through an opening (stoma) outside of your baby’s anus, usually around their belly. The poop goes into an ostomy bag attached to your baby’s body.

Additional treatments

Some nonsurgical treatments work well in addition to surgery. They include:

Bowel management: A routine involving medicines and/or enemas to make sure your child’s pooping habits are healthy.
Sacral nerve stimulation: A surgeon inserts a tiny device near your lower spine to control when you pee and poop.
Biofeedback: Therapy that involves learning strategies to have more control over involuntary bodily functions — in this case, pooping.

After surgery, some babies with Hirschsprung’s disease may still have constipation, pooping accidents and colon infections. But with long-term follow-up care, most children can manage pooping without becoming severely constipated or developing fecal incontinence.

Conclusion

If you come across any of your known friend, neighbour or loved one suffering from any disease unaffordable or untreatable at your country please feel free to contact us via email query@gtsmeditour.com or you can whatsapp us on +91 9880149003 and get second medical opinion from our professional healthcare providers abroad. further we shall assist in getting the appropriate treatment.

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Hemifacial microsomia

Apr 23, 2025 Posted by admin Paediatrics, Plastic surgery 0 comments

Overview

Hemifacial microsomia is the second most common facial birth defect behind cleft lip and palate, affecting one in every 3,500 to 4,000 births. Hemifacial microsomia is a congenital condition in which the tissues on one side of the face are underdeveloped. It primarily affects the ear, mouth, and jaw areas, though it may also involve the eye, cheek, neck, and other parts of the skull, as well as nerves and soft tissue. In 10 to 15 percent of cases, both sides of the face are affected, oftentimes asymmetrically.

Children with hemifacial microsomia need ongoing medical care, including multiple surgeries. But once they reach early adulthood, they likely won’t need any more procedures. Long-term follow-up may be necessary to check for issues that come back or worsen over time. Hearing aids and implants may need adjusting.

Physical challenges and the psychological effects of looking different can impact your child’s emotional health. Seeking support through counseling is essential in helping your child develop coping strategies.

Causes

Symptoms can range from mild to severe and usually involve the underdevelopment of one or more facial features. Hemifacial microsomia affects everyone differently, and the degree of involvement can vary. One of the ways clinicians describe and assess the severity of hemifacial microsomia is the OMENS classification. The OMENS classification examines the function and appearance of each of the following, looking for characteristics commonly associated with hemifacial microsomia:

Orbit (eye socket): small and underdeveloped eyes with impaired vision; absent or unformed eye; growths on the eye; one eye appearing smaller than the other, but with normal vision
Mandible (the jaw bones): underdeveloped upper and lower jaw on one side; crooked jaw; missing, misaligned or overcrowded teeth; cleft lip and/or cleft palate; limited opening or closing of the mouth
Ear: small skin tags; misshapen or missing external ear; absent or abnormal development of the ear canal resulting in partial or total hearing loss
Nerves: ranging from mild weakness to partial or full facial paralysis
Soft tissues (skin, muscle, fat, tendons and ligaments): flattened forehead or cheekbone, unequal cheek fullness, asymmetrical mouth with lateral cleft

Most children with hemifacial microsomia have facial anomalies but no other major medical issues. In some cases, babies born with hemifacial microsomia may also have other health problems such as malformed vertebrae, heart defects or abnormally shaped kidneys.

Diagnosis and Tests

Healthcare providers typically start with a physical exam. They usually diagnose the condition shortly after birth. In some cases, they might detect it before birth using prenatal ultrasound or MRI (magnetic resonance imaging).

Your healthcare provider may need to run additional imaging tests to diagnose hemifacial microsomia, like:

X-rays
CT scans (computed tomography scans)

Management and Treatment

Treatment for this condition depends on the severity of involvement. Children with hemifacial microsomia usually need surgery to repair or reconstruct their facial features. The type and timing of these procedures depend on your child’s needs. In infancy, the focus of treatment is to make sure your baby is breathing and feeding well. In childhood and adolescence, the goal of treatment is to improve the function and appearance of the face. It’s often necessary to delay procedures or do them in multiple stages as your child grows.

Surgical treatments

Surgical treatments for hemifacial microsomia include:

Ear, nose and throat surgery
Facial plastic surgery
Eye surgery
Maxillofacial surgery
Oral surgery
Plastic surgery

Neonatal surgery

If your newborn has breathing difficulties or is unable to nurse, your healthcare provider may treat your baby’s hemifacial microsomia immediately after birth. The most common procedures done after delivery include:

Tracheostomy, an incision in your baby’s neck and windpipe to aid breathing
Tube feeding, which gives your baby nutrition if they’re unable to nurse

Nonsurgical treatments

In addition to surgical treatments, your healthcare provider may recommend these nonsurgical therapies:

Braces and other teeth-straightening devices
Hearing aids for mild hearing loss
Speech therapy to address challenges with swallowing and speaking

During follow-up visits, diagnostic testing may be done. The goal of continued monitoring is to help spot any irregularities in growth or development and to address health issues as they develop, optimizing long-term outcomes for your child.

Conclusion

Hope this article finds you with informative knowledge needed, further if you come across any of your family members friends or your loved ones with anysuch kind of disease you can guide them to us or share their latest reports via email – query@gtsmeditour.com and get the second best opinion from our experienced doctors and treatment plan for the same.

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lower lip hemangioma

Apr 13, 2025 Posted by admin Plastic surgery 0 comments

Overview

Hemangiomas are benign vascular tumors commonly occurring in infancy and childhood, affecting females more than males. few may be present from birth or even develop in adults. Clinically, hemangioma presents as smooth or lobulated soft tissue mass, measuring few millimeters, which is hardly noticeable, to several centimeters causing physical disfigurement and functional disturbance. Sixty percent of the lesions occur in head and neck region with lip, tongue, and palate being the most preferred site. Detailed study of hemangioma and its growth pattern needs to be performed to hopefully yield targeted therapeutics to treat and reduce the unnecessary social embarrassment to the patient.

Most hemangiomas go through phases of growth, then go away on their own.

Phase 1 (first 2 to 3 months) – Appear during the first weeks of life and grow fast.
Phase 2 (next 3 to 4 months) – The growth slows down.
Phase 3 – No change.
Phase 4 (next 1 to 10 years) – At around 1 year of age, the hemangioma starts shrinking and fading in color slowly. Many go away during this time.
- By age 5, most hemangiomas are flat and lighter in color.
- By age 10, many are gone or very hard to see.

Some hemangiomas leave behind soft, wrinkly skin in areas that were stretched out by the growth. Others leave behind the look of surface blood vessels. If there are skin changes, your child may have a procedure when they’re older to correct the changes.

Diagnosis

The health care provider can usually look at their skin to see a hemangioma. If they can’t tell, your child may need an imaging test, like an ultrasound scan.

Types of Hemangiomas

Hemangiomas may happen anywhere on the body. Picture 1 shows the 3 main types:

Superficial (on the surface of the skin) – Look flat at first, then become bright red with a raised, uneven surface.

Deep (under the skin) – Appear as a bluish-purple swelling with a smooth surface.

Combined – Have both superficial and deep components.

the 3 types of hemangiomas on a baby's face

Treatment

If your child’s hemangioma needs to be treated, their doctor or health care provider will talk to you about options. Treatment depends on the size, location, and if it’s causing any problems for your child. Treatments may include:

Topical medicine (cream or lotion that is rubbed on the hemangioma):
- Topical beta blockers may help lighten the hemangioma and slow its growth. This works best on small, superficial hemangiomas.
- Topical antibiotics are used for open sores with concern for infection.
Oral medicine (taken by mouth) – Your child will be watched closely for side effects. They may need to have an exam before starting these medicines.
- Propranolol is the first oral treatment option.
- Prednisone may be used if propranolol doesn’t work or can’t be used on your child’s hemangioma.
Surgery – Your child may need surgery to remove the hemangioma. This is rare. It may be done when the hemangioma has stopped growing or other treatments have failed. Your child may also have surgery to remove markings left over from hemangiomas.
Laser – This may lighten the look of blood vessels left over from hemangiomas.

Conclusion

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Dehydration and Oral Rehydration Solution(ORS)

Mar 22, 2025 Posted by admin General Health 0 comments

Overview

when your body loses more fluid than you consume primarily due to diarrhea, vomiting, excessive of sweat and urine you become to happen dehydrated and so is called dehydration. In order to combat dehydration ORS is given as a primary solution for mild to moderate condition of dehydration However, a person may need intravenous (IV) fluids if they become dangerously dehydrated. ORS – Oral Rehydration Salts is made of water, glucose, sodium, and potassium. The combination optimizes fluid absorption in the body, which then helps quickly replenish fluids and makes you feel better and recover fast. One can buy ORS over the counter or get a prescription.

What is ORS?

Oral rehydration solution (ORS) is made of water, sugar, and electrolytes, specifically potassium and sodium. ORS helps in replenishing the body’s fluid levels. It’s generally used to treat moderate dehydration due to diarrhea, vomiting, or other conditions.

Causes of dehydration

It’s normal to lose water from the body every day through sweat, urine, stools and saliva. Usually, we replenish it by drinking fluids and eating water-rich foods. If someone loses too much water or doesn’t replace it, they can get dehydrated.

Following are other reasons you may lose more water than usual:

Diarrhea
A fever
Vomiting
Excessive sweating
Too much urination

Symptoms of dehydration

Signs of mild or moderate dehydration include:

Thirst
Less urination
Headache
Dry or sticky mouth
Muscle cramps
Dry, cool skin
Dark yellow urine

Signs of severe dehydration include:

Dehydrated skin
Rapid breathing
Rapid heartbeat
Sunken eyes
Not urinating or observing very dark yellow urine
Fainting
Feeling dizzy
Sleepiness, lack of energy, confusion, or irritability

Symptoms for young children and babies can be different than for adults. The symptoms include:

No tears when crying
Sleepiness, lack of energy, or irritability
Dry diapers for 3 hours
Dry mouth and tongue
Sunken eyes, cheeks, and soft spot on the top of the head

Treatment and Dosage recommendations

You can treat mild dehydration with fluids such as water and clear broth.

But in the case of moderate dehydration, an ORS is considered ideal. In addition to containing water, ORS also contains specific amounts of glucose and electrolytes. The electrolytes are potassium and sodium.

These components help in maximizing fluid absorption in the gastrointestinal tract. The gastrointestinal tract relies on sodium-glucose cotransporters (SGLTs), which are carriers of proteins in the intestinal cells of the body. Cotransporters help move substances across membranes in the body.

Specifically, SGLTs combine sodium and glucose transport in the small intestine. It then allows glucose to increase the absorption of fluids in the body. Additionally, sodium needs glucose to be adequately absorbed. Therefore, ORS contains both glucose and sodium.

Since 1975, the World Health Organization and UNICEF have used ORS to treat dehydration due to diarrhea. It’s commonly used in countries with limited access to clean water or other hydration options.

The success rate of oral rehydration therapy is high. According to 2018 researchTrusted Source, oral rehydration therapy has prevented 54 million deaths due to diarrhea since 2007. Since 1980, the therapy has also reduced diarrhea-related deaths in children by two-thirds.

Dosage

Compared to adults, children are more likely to experience dehydration due to diarrhea. They have a higher metabolic rate, meaning their bodies quickly use water. Children might unable to recognize thirst or hydrate themselves.

The correct dosage for children under the age of 2 is at least half a large glass of ORS after each watery stool and for children above the age of 2 is at least one large glass of ORS after each watery stool.

The appropriate amount of ORS depends on your age.

This is because your age determines how much fluid your body needs to function. Younger children are naturally smaller, so they need less. Adults will need more because they have larger bodies.

Here are the recommended doses by weight or age, according to the Nationwide Children’s Hospital:

Weight or age	Dosage
7–10 pounds	at least 2 ounces (4 tablespoons or 1/4 cup) per hour
11–15 pounds	at least 2 1/2 ounces (5 tablespoons) per hour
16–20 pounds	at least 3 1/2 ounces (1/2 cup) per hour
21–40 pounds	at least 6 1/2 ounces (3/4 cup) per hour
41–60 pounds	at least 10 ounces (1 1/4 cups) per hour
10 years or older	up to 68 ounces (8 1/2 cups) per day

Potential risks and side effects of oral rehydration therapy

Oral rehydration therapy is designed to normalize electrolyte levels. However, if the solution isn’t prepared or used correctly, it can cause salt toxicity. This is also known as hypernatremia.

Possible side effects include:

nausea
vomiting
weakness
loss of appetite
confusion
severe thirst
kidney damage

Who should avoid oral hydration solutions

You should use oral rehydration solutions with caution if you:

have a kidney disorder
have diabetes
have heart failure
are taking heart disease or blood pressure medications

A doctor can determine if oral rehydration therapy is safe for you.

ORS preparation

It’s not recommended to treat dehydration with homemade ORS. Over-the-counter or prescription ORS is the safer choice.

Typically, ORS is available as powders in packets. The powders are designed to be dissolved in water.

The general steps for preparing an ORS are as follows:

Wash your hands with soap and clean water.
Next, wash a container and utensil with soap and clean water.
Pour one liter of clean water into the container.
Add the ORS powder to the water, then mix with the utensil.

Precautions to Consider

While ORS is generally safe and well-tolerated, certain precautions should be observed:

Underlying Health Conditions: Individuals with pre-existing kidney disorders, heart conditions, or electrolyte imbalances should consult a healthcare professional before using ORS.

Allergies: Those with known allergies to any of the ingredients in ORS should avoid its use and seek alternative hydration solutions.

Proper Dilution: Ensure proper dilution of ORS according to the instructions provided to avoid adverse effects due to excessive electrolyte intake.

Monitoring: In cases of severe dehydration or persistent symptoms, medical attention should be sought promptly to prevent complications.

Conclusion

An oral rehydration solution treats moderate dehydration. It’s made of water, glucose, sodium, and potassium. The combination optimizes fluid absorption in the body, which then helps quickly replenish fluids. The solution is often used to treat dehydration caused due to diarrhea or vomiting. One can buy it over the counter or get a prescription. If a person has had a lot of diarrhea or vomiting, they should speak with a doctor. They can determine if the person needs an oral rehydration solution or if they need intravenous fluids.

last but not the least if you come across any of your known friend, neighbour or loved one suffering from any disease unaffordable or untreatable at your country please feel free to contact us via email query@gtsmeditour.com or you can whatsapp us on +91 9880149003 and get second medical opinion from our professional healthcare providers abroad. further we shall assist in getting the appropriate treatment.

Herpetic Whitlow

Mar 21, 2025 Posted by admin Dermatology 0 comments

Overview

A herpetic whitlow is a herpes lesion, typically on a finger or thumb, Although the presence of a blister is a common sign of this condition, your fingers may become red or swollen before a blister forms. caused by the herpes simplex virus. Occasionally infection occurs on the toes or on the nail cuticle. Herpes whitlow can be caused by infection by HSV-1 or HSV-2.Symptoms of herpetic whitlow can appear 1 to 2 weeks after exposure to the virus. You may develop one blister or a cluster of blisters. It can take up to 3 weeks for the blisters to heal. Eventually, the blister — or group of blisters — ruptures. This forms a shallow ulcer with a crust-like scab. You may experience a burning or tingling pain that’s worse than what you would expect from the blisters. Herpetic whitlow can also produce a fever and swollen lymph nodes. It’s possible to get recurrent outbreaks after an initial outbreak, but this is rare. Herpetic whitlow doesn’t require treatment.The condition usually heals within a few weeks without medication, but a prescription antiviral drug can shorten the duration of an outbreak. However, recurrent outbreaks of herpetic whitlow are usually less severe and heal faster because the body has developed antibodies to take measures against the virus.

Symptoms

Signs and symptoms of herpetic whitlow include:

Blisters or fluid-filled bumps on the skin near your fingernail.
Colour changes to the skin around your nail, usually darker than your normal skin tone, or red to purple.
Swollen finger.

Causes

The herpes simplex virus (type 1 or type 2) causes herpetic whitlow. You usually acquire it from contact with another person who has the virus, especially after contact with a cold sore or “fever” blister. The virus usually penetrates your skin if you have a cut.

Diagnosis and Tests

Your healthcare provider will diagnose herpetic whitlow based on the appearance of the signs and symptoms localized on your finger. The condition has a unique look on your skin. To confirm the diagnosis, your provider will provide a PCR test or a culture test.

Management and Treatment

Herpetic whitlow typically lasts about two weeks, sometimes longer if left untreated. Herpetic whitlow deserves good wound care. Use compresses and protection with bandages to prevent secondary infection. Covering your blisters also prevents the spread of the virus to others Treatment for herpetic whitlow focuses on the infection. It could include compresses two to three times per day, coupled with an oral or topical antiviral medication. An over-the-counter pain reliever (analgesic) treats pain.

Prevention

Prevention may be difficult, but the following measures can help:

Frequent hand washing with soap and water.
Wearing gloves in a healthcare setting, especially with close contact with people’s mouths.
Stopping your child from sucking their fingers, especially their thumb.

Conclusion

Herpetic whitlow is a temporary, painful condition that typically resolves in two to three weeks. Antiviral treatment may be necessary to help the condition go away faster. further to conclude if you come across your loved ones with anykind of major disease where treatment is unaffordable you can guide them to us and let them share the patient latest reports via, email – query@gtsmeditour.com or whatsapp the reports on +91 9880149003 and get the second medical opinion and treatment plan for better decision making and planning for the same.

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Kaposiform hemangioendothelioma (KHE)

Mar 10, 2025 Posted by admin Oncology 0 comments

Overview

Kaposiform hemangioendothelioma (KHE) may look like a birthmark, but is actually a rare benign tumor caused by the abnormal growth of blood vessels, diagnosed in infancy or early childhood It can appear anywhere on the body, often on the head and neck but also on the stomach, back, arms, and legs — even inside the chest, abdomen, or bones. Although KHE can grow, it doesn’t spread to other locations in a child’s body. A mild form of KHE, called tufted angioma, is less likely to cause complications or require treatment. Researchers are still searching for the cause of KHE. It is not inherited, and while it typically occurs in infancy, Magnetic resonance imaging (MRI) is generally first-line assessment because the deep infiltrating nature of KHE may not be apparent on physical exam or on ultrasound. MRI with and without gadolinium has the most value in the diagnosis of KHE as well as for clearly determining the extent of involvement and response to treatment. Some mild KHE tumors go away without treatment. For those that do not, doctors have multiple treatment options available to them, depending on the size, location, and behavior of the tumor. The goals of treatment are to relieve symptoms, shrink the tumor, and reverse Kasabach-Merritt, if it is present. Further clinical studies are also needed to refine the guidelines for the standard use of therapies and follow-up in patients with KHE.

Symptoms

The exact symptoms of KHE depend on where the lesion appears. The most common symptom of KHE is a growing lesion on the skin. This lesion:

Is usually a deep reddish-purple and has poorly defined edges
Is firm and warm to the touch
Often has shiny and tense skin
May be accompanied by a bruise-like discoloration nearby, or tiny red or purple spots (petechiae) anywhere on the body
Sometimes swells and becomes painful, or causes pain with movement or reduced range of motion

The exact symptoms of KHE depend on where the lesion appears. About 10 percent of children with KHE have no skin lesion, and some lesions penetrate deeper than the skin into other tissues.

Most children have few complications and may not need medical therapy. Some patients with KHE, however, develop what is called Kasabach-Merritt phenomenon (KMP), in which their tumor traps platelets and keeps them from circulating through the bloodstream. Because platelets help prevent bleeding, patients with KMP have a higher risk of bleeding.

KMP may develop in patients whose tumors are larger, invade into deeper tissues, or if there are sites of infection or inflammation nearby. Some children who develop KMP also lack other blood proteins that help control bleeding, such as fibrinogen.

Causes

Causes for Kaposiform hemangioendothelioma (KHE) is unknown, Researchers are still searching for the cause of KHE. It is not inherited, and while it typically occurs in infancy, KHE can arise prenatally or in adults after trauma.

Diagnosis

The first step in treating your child is forming an accurate and complete diagnosis. An experienced vascular anomalies specialist can help tell the difference between KHE and other vascular anomalies.

Most often, KHE is diagnosed through a complete medical history, a thorough physical exam and one or more of the following tests:

Complete blood count
Magnetic resonance imaging (MRI)
Ultrasound
Biopsy

Treatment

Some mild KHE tumors go away without treatment. For those that do not, doctors have multiple treatment options available to them, depending on the size, location, and behavior of the tumor. The goals of treatment are to relieve symptoms, shrink the tumor, and reverse Kasabach-Merritt, if it is present.

Treatment options include:

Watchful waiting: For superficial tumors without low platelets, your child’s doctor may want to observe the tumor for a few months before determining the most appropriate treatment.
Oral or topical steroids: In mild cases, oral or topical steroids may help other treatments work better and improve superficial lesions. However, only about 12 percent of KHE tumors respond to steroids.
Drug therapy: Considered the gold standard treatment for most tumors, medications slow the growth of the tumor and improve symptoms.
Surgery: Your doctor will only recommend surgery if your child’s tumor is very small or extremely aggressive and able to be completely removed.
Embolization: This minimally invasive procedure blocks the main artery feeding a KHE tumor to cut off the blood supply and shrink it. We do not attempt embolization in cases where several arteries feed into the tumor, which is often the case with KHE.

Medications

Medications used to treat KHE include:

Sirolimus: Also known as rapamycin, this oral medication suppresses the immune system and slows the growth of abnormal lymphatic vessels that form the tumor. It has been found to shrink KHE tumors and improve symptoms, including pain.
Vincristine: This chemotherapy drug targets all dividing cells within the body and is therefore used to treat many cancers. While KHE is not a cancer, there are dividing cells in the tumor. Vincristine has been used successfully for decades to treat KHE.

Many patients have an excellent long-term outlook through successful KHE treatment. In general, you child’s prognosis depends on:

How quickly the diagnosis is made and appropriate medical therapy is started
The size, location, and extent of disease
The tumor’s initial response to therapy

When KHE is suspected, it’s important to see a specialist quickly to allow early discussions about treatment. Specialists can then attempt to shrink the tumor before it affects muscles or other tissues nearby. Early treatment could also help reduce long-term complications by preventing further growth.

To Conclude if you come across any of you close ones with this type of disease or any such kind you can direct the patient to us or share us the latest medical history with reports via email : query@gtsmeditour.com or whatsapp the same on +91 9880149003 and get the genuine second opinion, which help you decide further and take firm decision.

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Harlequin ichthyosis

Feb 26, 2025 Posted by admin Cosmetic Surgeries, Dermatology 0 comments

Overview

Harlequin ichthyosis is the most severe type of ichthyosis and a rare genetic skin disease that affects newborns. It causes babies to be born with hard, thick plates of skin that crack and split apart. Babies born with harlequin ichthyosis need special care in the NICU. For them, the most dangerous time is the first few weeks of life, before the thick casing they’re born with falls off. baby might also get support from physical and occupational therapists, skin doctors (dermatologists), nutritionists, or other professionals. Improved treatment options have given babies a better chance at survival than in the past. But many still die within the first few weeks of life due to complications of the disease.

You can’t prevent harlequin ichthyosis because it’s a genetic condition. If you have a biological family history of the condition, you may want to talk to your healthcare provider about genetic testing or genetic counseling.

Symptoms

Babies with harlequin ichthyosis are typically born prematurely. When they’re born, their bodies are covered in thick, platelike scales of skin. Skin tightness causes the scales to form deep cracks (fissures). The tightness also pulls the skin around your baby’s eyes and mouth, causing their eyelids and lips to turn inside out. It also pulls on the skin of your baby’s chest and abdomen, making it difficult to breathe and eat. Other symptoms may include:

Flat nose.
Ears fused to their head.
Small, swollen hands and feet.
Abnormal hearing.
Frequent respiratory infections.
Decreased joint mobility.
Low body temperature.

Causes

A genetic variant (genetic mutation) in the ABCA12 gene causes harlequin ichthyosis. The ABCA12 gene gives your body instructions for making a protein that’s vital for the development of healthy skin cells. This protein has an important role in transporting fats (lipids) to the outermost layer of your skin (epidermis), producing a barrier.

If you have harlequin ichthyosis, you have abnormally small amounts of the ABCA12 protein or none at all. This disrupts the normal development of your epidermis, which leads to the severe symptoms that the condition produces.

You inherit harlequin ichthyosis in an autosomal recessive manner, which means you receive both copies of the affected gene — one from each parent. The parents are both carriers of the mutated gene but typically don’t show symptoms of the condition.

Diagnosis and Tests

The diagnosis of harlequin ichthyosis relies on a physical examination of the patient and genetic laboratory investigations.

Genetic testing for a loss of function mutation in the ABCA12 gene is the most specific diagnostic test for harlequin ichthyosis.

Mutations in the gene may cause impaired transport of lipids in the skin and shrunken versions of proteins responsible for skin development.
Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma-like presentation.

Skin biopsy shows a very thickened stratum corneum, parakeratosis, and hypergranulosis.

Treatment

There is no cure for harlequin ichthyosis, and treatment is centred around protecting the skin and preventing infection.

After birth, the thick plate-like outer layer of skin eventually splits and peels, leaving the vulnerable inner layers of the dermis exposed. Most harlequin infants will need one-on-one nursing care for the first several weeks of life. Antibiotic treatment may also be necessary to prevent or treat infection during this time.

Softening emollients, especially those containing urea, salicylic acid or alpha hydroxy acids, are particularly effective when applied after bathing while the skin is still moist. These products work to keep the skin moisturised and pliable while preventing the cracking and fissuring that can lead to secondary bacterial infection.

Early systemic treatment with oral retinoids (eg, acitretin or isotretinoin) has also been shown to heal skin fissures, soften or resolve plate-like scales, and improve overall survival

For further any such disease treatment abroad you can connect us via email query@gtsmeditour.com or whatsapp us the patient latest reports on +91 9880149003 and get a free second medical opinion and treatment plan, further which will help you make a right decision.

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Sleep-related hypermotor epilepsy (SHE)

Feb 26, 2025 Posted by admin Neurology 0 comments

Overview

Epilepsy is the fourth most common neurological disorder in the world. If you have epilepsy, surges of electrical activity in your brain can cause recurring seizures. coming to Sleep-related hypermotor epilepsy (SHE), formerly known as nocturnal frontal lobe epilepsy, is a form of focal epilepsy characterized by seizures which arise during sleep. The seizures are most typically characterized by complex motor behaviors. This disorder is associated with cognitive impairment in at least half of patients as well as excessive daytime sleepiness due to poor sleep quality. This disorder is sometimes misdiagnosed as a non-epileptic sleep disorder. There are many potential causes of SHE including genetic, acquired injuries and structural abnormalities. In 1981, Lugaresi and Cirignotta described a group of 5 patients with paroxysmal attacks of violent movements of the extremities and dystonic-tonic posturing. It was initially uncertain whether these events constituted seizures or something else. However, the patients had a good clinical response to the anti-seizure medication carbamazepine. Ultimately, the epileptic nature of this condition was confirmed with EEG and suggested that they were coming from the frontal lobe. The term “nocturnal frontal lobe epilepsy” was suggested as a name for this condition. Later in 2014, a consensus conference recommended that the name be changed to sleep-related hypermotor epilepsy. There were three main justifications for this change: (1) not all seizures arise from the frontal lobe; (2) seizures do not necessarily occur during the night but rather from sleep; (3) hypermotor describes the most common visible clinical manifestation of the seizures. Although there is no known cure for epilepsy, developments in treatment have made it possible for most people to achieve seizure control. The first treatment step is usually to find the right medicine or Anti-Epileptic Drug (AED). If seizures continue to happen, other treatments like devices, dietary therapies, or surgery can help control seizures.

Symptoms

Seizures in SHE are brief and usually have an abrupt onset and offset.The observable clinical manifestations may consist of rapid, hyperkinetic movements as well as tonic/dystonic posturing of the limbs.Other potential manifestations include brief arousals from sleep or wandering ambulatory behavior. Non-motor manifestations (such as sensory or emotional phenomenon) are common and retained awareness during seizures may occur. Seizures usually occur during non-REM sleep. The frequency of seizures can be very high and as many as dozens may occur every night which results in poor sleep quality. In addition, many patients with SHE suffer from cognitive impairment and have behavioral/psychological problems. There are many risks associated with nocturnal seizures including concussion, suffocation and sudden unexpected death (SUDEP).

Causes

Approximately 86% of SHE cases are sporadic, 14% of patients have a family history of epilepsy and 5% are inherited in an autosomal dominant manner (i.e. autosomal dominant sleep-related hypermotor epilepsy). Both genetic, structural and multifactorial etiologies can occur. In structural cases, the most common pathology is focal cortical dysplasia.^[10]

The first described mutation in SHE was found in genes coding for the neuronal nicotinic acetylcholine receptor.Since then multiple other genes have been identified including KCNT1, DEPDC5, NPRL2, NPRL3, PRIMA1, CABP4, CRH and others. In some cases, structural and genetic etiologies can coexist such as with mutations in DEPDC5.

Diagnosis

Criteria for diagnostic certainty of SHE were developed based on consensus expert opinions and studies of Class III level.

•Diagnosis of SHE is primarily based on clinical history. The absence of clear interictal and ictal EEG correlates, both during wakefulness and sleep, does not exclude the diagnosis of SHE.¹³

•Certainty of diagnosis can be categorized into 3 levels: witnessed (possible) SHE, video-documented (clinical) SHE, and video-EEG-documented (confirmed) SHE.

Witnessed (possible) SHE.

The main prerequisite to suspect the diagnosis of SHE is the presence of seizures consisting of obvious and disruptive hypermotor events, as described above. The semiologic aspects of such events, as provided by an eyewitness, are generally concordant with those documented by video analysis.¹⁶ Hence, data from a good clinical history are sufficient to make the diagnosis of witnessed (possible) SHE.

Video-documented (clinical) SHE.

Clinically diagnosed SHE requires audio-video documentation of hypermotor events. In such a video recording, at least 1 event but preferably 2 entire events should be documented (confirmed to be typical by witness), including the onset and with clear visualization of the entire events, showing the evolution and offset of the attacks. If the captured episodes are minor motor events or paroxysmal arousals, and if few episodes are captured, the clinical diagnosis may be unreliable.^16,38,39

Video-EEG-documented (confirmed) SHE.

A confirmed diagnosis of SHE requires video-EEG documentation of the events during a daytime sleep recording after sleep deprivation, or during a full night sleep recording, with at least 19 EEG channels (10–20 International System), ECG, oculogram, and chin EMG. SHE is confirmed when hypermotor seizures are recorded during sleep, associated with a clear-cut epileptic discharge or with interictal epileptiform abnormalities.

ETIOLOGY/GENETICS

Statements about etiology were formulated based on core literature consisting of clinical studies of Class III level and Class IV level or genetic molecular studies of Class 1 level, Class 2 level, or Class 3 level.

•In a majority of patients, the etiology is unknown.

•Identified etiologies are heterogeneous and include structural anomalies such as focal cortical dysplasia, acquired injuries, and genetic causes.

•No specific clinical features distinguish etiologies.^5,17,19

A majority of individuals with SHE do not have a family history or other identified etiologies. In some patients with drug-resistant SHE, the etiology may involve a surgically treatable lesion, in particular type II focal cortical dysplasia.

Therefore diagnosis is based on clinical history but often EEG and/or polysomnography is required. In many patients the EEG can also be unhelpful as seizures may originate from deep in the brain. Polysomnography can be helpful distinguishing SHE from parasomnias as they often arise from different stages of sleep.

Treatment

Like other forms of epilepsy, SHE can be treated with anti-seizure medications. Adequate control of seizures occur in approximately two-thirds of patients with anti-seizure medications while approximately one-third of patients do not appropriately respond. The relative efficacy of different medications has not been systematically investigated. Historically, low-dose carbamazepine has been the preferred medication for SHE and is often considered to be first-line. Other anti-seizure medications which have been studied for the treatment of SHE and found to have efficacy include: oxcarbazepine, topiramate, lacosamide and perampanel. Epilepsy surgery can be efficacious in refractory patients. In addition, there have been reports of successfully treating SHE due to mutations in CHRNA4 with nicotine patches.

To conclude if you come across any of your loved ones with this condition feel free to connect us via email query@gtsmeditour.com or WhatsApp us on +91 9880149003 with all the latest reports available and get an free second opinion and further decide on the travel abroad and get the complete treatment at an affordable cost.

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Myasthenia Gravis

Feb 22, 2025 Posted by admin Neurology 0 comments

Overview

Myasthenia gravis is a disease-causing fluctuating weakness of muscles like that of the limbs, swallowing and eye movement muscles. Myasthenia gravis (autoimmune type) happens when your body’s immune system mistakenly attacks itself. Myasthenia gravis affects how your nerves communicate with your muscles. It leads to muscle weakness that worsens throughout the day and with activity. Drooping eyelids and/or double vision are often the first sign Researchers aren’t sure why this happens. Studies suggest that certain immune system cells in your thymus gland have trouble identifying what’s a threat to your body (like bacteria or viruses) versus healthy components. A genetic changes causes congenital myasthenia. Antibodies passed from a birthing parent to a fetus during pregnancy cause neonatal myasthenia. Medications and surgery can help relieve the symptoms of this lifelong illness. Treatment includes medications that can reduce your symptoms. Monoclonal antibodies: Doctor will give intravenous (IV) or subcutaneous (SQ) infusions of biologically engineered proteins. These proteins suppress an overactive immune system, Plasma exchange (plasmapheresis): An IV connected to a machine removes harmful antibodies from your blood plasma and replaces them with donor plasma or a plasma solution. Last option is thymectomy surgery is done to remove the thymus gland.

Causes

Myasthenia gravis (autoimmune type) happens when your body’s immune system mistakenly attacks itself. Researchers aren’t sure why this happens. Studies suggest that certain immune system cells in your thymus gland have trouble identifying what’s a threat to your body (like bacteria or viruses) versus healthy components.

A genetic change causes congenital myasthenia. Antibodies passed from a birth mother to a fetus during pregnancy cause neonatal myasthenia.

Symptoms

Symptoms of myasthenia gravis may include:

Muscle weakness in your arms, hands, fingers, legs and neck.
Fatigue.
Droopy eyelids (ptosis).
Blurry or double vision.
Limited facial expressions.
Difficulty speaking, swallowing or chewing.
Trouble walking.

Initial symptoms of myasthenia gravis happen suddenly. Your muscles usually get weaker when you’re active. Muscle strength returns when you rest. The intensity of muscle weakness often changes from day to day. Most people feel strongest at the start of the day and weakest at the end of the day.

In rare instances, myasthenia gravis affects muscles in your respiratory system. You may have shortness of breath or more serious breathing problems. Contact 911 or your local emergency services number if you have trouble breathing. In general, this doesn’t occur suddenly.

Types of myasthenia gravis

The types of myasthenia gravis include:

Autoimmune myasthenia: It’s an autoimmune condition where the cause isn’t well understood but the likely cause is the production of certain types of antibodies (immune system proteins). This is the most common type.
Neonatal myasthenia: A fetus gets certain antibodies from their birth mother who has myasthenia gravis. An infant may have a weak cry or sucking reflex at birth. These temporary symptoms usually go away after three months.
Congenital myasthenia: It isn’t an autoimmune condition, and a genetic change causes this type.

There are two subtypes of autoimmune myasthenia:

Ocular: The muscles that move your eyes and eyelids weaken. Your eyelids may droop, or you may not be able to keep your eyes open. Some people have double vision. Eye weakness is often the first sign of myasthenia. Ocular myasthenia gravis may evolve into the generalized form for nearly half of all people diagnosed with this type.
Generalized: Muscle weakness affects your eye muscles and others in your face, neck, arms, legs and throat. You may find it difficult to speak or swallow, lift your arms over your head, stand up from a seated position, walk long distances and climb stairs.

Risk factors for myasthenia gravis include:

Myasthenia gravis is most common among females around age 40 and males after age 60. The condition can affect anyone at any age.

You may be more at risk of developing myasthenia gravis if you:

Have a history of other autoimmune conditions, such as rheumatoid arthritis and lupus.
Have thyroid disease.

If you have myasthenia gravis, your symptoms could trigger (start) if you:

Take medications for malaria and heart arrhythmias.
Underwent surgery.
Had an infection.

Diagnosis and Tests

Testing confirms a diagnosis. It may include:

Blood antibody tests: About 85% of people with myasthenia gravis have unusually high levels of acetylcholine receptor antibodies in their blood. Approximately 6% of people diagnosed have muscle-specific kinase (MuSK) antibodies.
Imaging scans: An MRI or CT scan can check for thymus gland problems like tumors.
Electromyography (EMG): An EMG measures the electrical activity of muscles and nerves. This test detects communication problems between nerves and muscles.

Myasthenia gravis stages

There are five main classifications of myasthenia gravis that your healthcare provider may use during a diagnosis:

Class I: Muscle weakness only affects your eyes (ocular muscle).
Class II: Muscle weakness is mild.
Class III: Muscle weakness is moderate.
Class IV: Muscle weakness is severe.
Class V: Severe muscle weakness affects how you breathe. You may need intubation or mechanical ventilation.

Management and Treatment

There’s no cure for myasthenia gravis. But effective treatment is available to help manage your symptoms. Treatments may include:

Medications: Certain medications can reduce your symptoms.
Monoclonal antibodies: You’ll receive intravenous (IV) or subcutaneous (SQ) infusions of biologically engineered proteins. These proteins suppress an overactive immune system.
Plasma exchange (plasmapheresis): An IV connected to a machine removes harmful antibodies from your blood plasma and replaces them with donor plasma or a plasma solution.
IV or SQ immunoglobulin (IVIG or SCIG): You’ll receive IV infusions of donor antibodies over two to five days. IVIG or SCIG can treat myasthenia crisis, as well as generalized myasthenia gravis.
Surgery: A thymectomy is surgery to remove the thymus gland.

To conclude, if you come across any of your friend or loved one looking for treatment abroad you can reach us at query@gtsmeditour.com or whatsapp us on +91 9880149003 and get a free medical opinion .

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Porencephaly

Jan 30, 2025 Posted by admin Neurology 0 comments

Overview

Porencephaly is a structural abnormality of the brain. It may manifest before or after birth. It is a very rare disorder that affects your central nervous system, children with this condition develop fluid-filled cavities, or cysts, on their brain. These brain cysts can delay and impair your child’s growth and development. These cysts can interfere with normal brain growth and development. Children with porencephaly may experience speech difficulties. They may also have other neurological deficits (abnormal functioning in areas of their body).However, on rare occasions, it can be related to an inherited genetic condition. There is no clear cure for porencephaly. However, there are many ways to manage its effects. Treatments focus on improving neurological impairments. If hydrocephalus is present, excess fluid around your child’s brain can be drained.

SYMPTOMS

Possible symptoms include:

Motor delay (differences in muscle tone, movement, posture, or developmental milestones)
Speech and language delay
Learning challenges
Cognitive or intellectual differences
Slow overall growth
Developmental delays in multiple areas (global delays)
Seizures
Spastic hemiplegia (stiffness and weakness in limbs)
Hypotonia (low muscle tone)
Macrocephaly (large head)
Microcephaly (small head)
Hydrocephalus (increased pressure in the brain)

Causes

With a lack of oxygen or bleeding in your child’s brain, fluid-filled cysts can replace normal brain tissue. This is more likely to happen if the following risk factors are present:

Alcohol or drug use during pregnancy.
Gestational diabetes.
Infection during pregnancy.
Infection shortly after birth.
Trauma during birth.
Other causes of stroke or lack of oxygen to their brain (like blood disorders and metabolic diseases). Sometimes, healthcare providers can find clues about the underlying cause based on the location, size and distribution of the cysts.

Some types of porencephaly are genetic and can be inherited. This means that a person only needs one abnormal gene copy to show symptoms. The abnormal gene can be inherited from a mother or father. A person with a COL4A1 or COL4A2 gene mutation has a 50 percent chance of passing on condition. Two people with the same mutation may have very different symptom severity.

Diagnosis

To confirm a diagnosis of porencephaly, your healthcare provider needs to see detailed images of your child’s brain. You or your child may have imaging tests like:

Prenatal ultrasound or ultrasound.
CT scan.
MRI.

Management and Treatment

There is no clear cure for porencephaly. This structural abnormality cannot be reversed. However, there are treatments that can help with symptoms arising in the aftermath of porencephaly.

Symptoms and Available Treatments

Cognitive, speech, language, or motor delays. Physical therapy, occupational therapy, special instruction, and speech therapy can be very effective.
Learning challenges. Working closely with school systems to generate individualized educational plans and support can be helpful. Special education programs can also help.
Seizures. Various medications can be used to treat seizures. There may be dietary and surgical options as well
Spasticity. Medications can manage high tone or stiffness in muscles. For instance, injections of botulinum toxin can help loosen muscles or medications such as baclofen are commonly used.
Adaptive equipment. Braces and adaptive equipment can significantly improve a child’s functioning and quality of life.
Hydrocephalus. This is increased pressure in the brain. Depending on the specific location of the porencephaly, a resection or surgical shunt can relieve this pressure.

Outlook

Outcomes can vary widely depending on the size and location of the fluid-filled cysts. Some children have mild or no symptoms. They may not even be diagnosed. Others may have some mild learning challenges. They may have treatable seizures or motor tone abnormalities. Children in this moderate category do very well with supportive treatment.

Still others may have more severe secondary symptoms. They may have larger cysts. Their cysts may be in problematic brain locations. These children may have been diagnosed soon after birth. Supportive care, therapies, and special education programs can go a long way. They can improve the long-term outcomes of these children.

Further, if you come across with this type of condition nearby in your country or with your friends or relatives you can share us the latest reports available via, email (query@gtsmeditour.com) or you can whatsapp the reports on +919880149003 and get free medical opinion from our panel of doctors and further support for the right treatment.

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