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Monthly Archives: February 2025

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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