Rare Genetic Disorder Diagnosed in Two-Month-Old Boy
A two-month-old boy from Muzaffarnagar, admitted to Child PGI, has been diagnosed with a rare genetic disorder called Neonatal Ichthyosis-Sclerosing Cholangitis (NISCH) syndrome.Â
Understanding NISCH Syndrome
NISCH syndrome is an autosomal genetic condition characterized by skin abnormalities and progressive liver disease. This disorder is caused by mutations in the CLDN1 gene, responsible for producing the protein claudin-1. The syndrome is extremely rare, occurring in less than one person per million globally.
Symptoms and Diagnosis
NISCH syndrome is an autosomal genetic condition characterized by skin abnormalities and progressive liver disease. This disorder is caused by mutations in the CLDN1 gene, which is responsible for producing the protein claudin-1. The syndrome is extremely rare, occurring in less than one person per million globally.
First Molecularly Confirmed Case in North India
According to Dr. Nilay, this is the first molecularly proven case in North India. The diagnosis was confirmed through genetic testing, rather than solely depending on clinical observations. Dr. Ravneet Kaur, a geneticist at Fortis, Mohali, highlighted that although there have been few reported cases worldwide, similar cases have been observed in India.
Global and Local Context
A 2020 article in the Journal of Hepatology reported that NISCH syndrome was first identified in 2002 in two inbred families of Moroccan origin. At that time, only 18 patients from nine families had been diagnosed. There have been three confirmed cases in India, and approximately 20 cases globally. Of these, at least five patients required liver transplants. The condition is more common in consanguineous marriages (marriages between close relatives).
Treatment and Management
The multidisciplinary team at Child PGI is overseeing the boy’s treatment. He has been discharged but will remain under regular observation. The syndrome manifests through various symptoms, including scalp hypotrichosis (sparse, coarse hair), scarring alopecia (hair loss due to inflammation), ichthyosis (dry, itchy skin), and sclerosing cholangitis (inflammation of liver ducts). Treatment includes skin hydration with topical creams, emollient oils, retinoids, and controlled sunlight exposure.
Parental Guidance and Future Care
The doctors have advised the parents to care for the boy’s skin and liver health. This includes keeping his skin moisturized and protecting him from direct sunlight. Regular check-ups will be essential to monitor his liver function and overall health.
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Dr. Nilay emphasized the need for increased awareness of rare genetic disorders in India. Many children with such conditions remain undiagnosed or misdiagnosed due to a lack of knowledge and resources. Immediate medical attention is crucial for any baby presenting with multiple organ issues.
Source: Inputs from various media SourcesÂ
