In what is touted as the first time in India and 4th case in the world, a joint team of doctors from the state government run Osmania General Hospital & Niloufer Hospitals performed a live liver transplantation on an 8-month-old child diagnosed with an extremely rare NISCH syndrome.
The marathon surgical procedure by the team of government doctors lasted for 18 hours and was led by Dr. CH. Madhusudhan, professor of Surgical gastroenterology.
NISCH syndrome is a rare autosomal recessive disease. It stands for Neonatal Icthyosis Scalp alopecia Cholangio Hepatisis. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing cholangitis.
It is caused by mutations in the CLDN1 gene encoding the claudin-1 protein, which is located at tight junctions. Fifteen cases have been reported to date and three different mutations have been identified.
In this case, the 8-month-old child weighing 6kg (baby of Premalatha, an Anganwadi worker) and daily wage worker Narayana, residents of Batti palli potharam, Jagirhyal, was reffered to the Department of Surgical gastroenterology, OGH with a diagnosis of NISCH SYNDROME.
“The baby was initially admitted and managed at the government Niloufer hospital but in view of progressive liver failure presenting with severe jaundice, ascites and coagulopathy, the baby was reffered to OGH for Liver Transplantation,” said Dr.CH.Madhusudhan, professor of Surgical gastroenterology, who led the team of doctors.
This baby presented with dry scaly skin (Icthyosis), no scalp hair (Alopecia), had jaundice since birth and water formation in the Abdomen (ascites).
“We initially treated her with drugs but she did not respond. So, we decided to do liver transplantation. The mother donated a portion of liver for her child . NISCH Syndrome is extremely rare. Till now, only 18 cases were reported in the world literature & only 4 cases underwent liver transplantation,” informed Dr Dr. CH. Madhusudhan.
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This is said to be the first patient who underwent liver transplantation for NISCH Syndrome from India. First NISCH Sundrome case was reported from Moraco child.
This genetic syndrome is common in consanguineous marriage people. Both parents were close relatives. She also had first child with similar syndrome but died immediately after birth. This is another child with same syndrome.
“Liver transplantation in a small child with skin changes were really challenging,” said Dr.CH.Madhusudhan, professor of Surgical gastroenterology, while crediting the entire team of doctors & staff & the health department for support.
The medical team involved from Surgical Gastroenterology department included Dr.ch.madhusudhan, Dr.Wasif Ali, Dr.Sudharshan, Dr.Adhitya, Dr.Varun, Dr.Venu, Dr.Amardeep), Anaesthesiology (Dr.Pandu Naik, Dr. Madhavi, Dr. Venkateshwarlu, Dr.Sunil, Dr.Harish), Department of Paediatric (Dr.Usha rani and team), Gastroenterology (Dr.Ramesh kumar and Dr.Umadevi) Nursing staff & theater assistants.
