By:- Team VOH
30 Jun 2024
A two-month-old boy from Muzaffarnagar, Uttar Pradesh, has been diagnosed with an extremely rare genetic disorder called Neonatal Ichthyosis-Sclerosing Cholangitis (NISCH) syndrome, doctors at Child PGI announced on Saturday. The condition, characterized by dry and scaly skin and progressive liver disease, affects less than one person per million globally.
The boy was referred to Child PGI by a senior pediatrician last month and was diagnosed based on test results received on Friday. He is being treated by Dr. Mayank Nilay, Dr. Rani Manisha, and Dr. Varun Venkatraghavan.
“NISCH syndrome is caused by a mutation in the CLDN1 gene, a protein found in the liver and skin,” explained Dr. Nilay. “This is the first case of NISCH we are aware of in India. The diagnosis was confirmed through scientific literature and research published on PubMed, from the National Library of Medicine.”
Dr. Ravneet Kaur, a geneticist and associate consultant at Fortis, Mohali, emphasized the rarity of the condition. “This is the first molecularly proven case from north India, meaning the diagnosis was confirmed at the genetic level,” she said. “In India, there have been three such cases, and worldwide, there are around 20 cases, with at least five requiring liver transplants. The prognosis varies based on the extent of liver involvement.”
A 2020 article in the Journal of Hepatology reported that NISCH syndrome was first identified in 2002 in two Moroccan families. At that time, only 18 patients from nine different families had been diagnosed with the syndrome.
The boy is under the care of a multidisciplinary team from the medical genetics and pediatric gastro medicine departments at Child PGI. Although discharged, he requires regular observation. He has no family history of the disease.
Dr. Nilay detailed the symptoms of NISCH syndrome: scalp hypotrichosis (sparse and coarse hair), scarring alopecia (hair loss due to inflammation), ichthyosis (dry and itchy skin), and sclerosing cholangitis (inflammation of liver ducts). Treatment involves skin hydration through creams and emollients, retinoids, and sunlight exposure.
The doctors have advised the parents to keep the baby's skin moisturized and protect him from direct sunlight. Regular check-ups are necessary to monitor his liver function and overall health.
“This case underscores the need for greater awareness about rare genetic disorders in India,” Dr. Nilay emphasized. “Many children with genetic disorders remain undiagnosed or misdiagnosed due to a lack of knowledge and resources. Any baby with multiple organ issues needs immediate medical attention.”
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