NISCH Syndrome as a cause of Neonatal Cholestasis - a case report from India.

Background and Aim: Neonatal Ichthyosis Sclerosing Cholangitis (NISCH) syndrome is a rare autosomal recessive condition characterized by neonatal Ichthyosis, cholestasis, alopecia sclerosing cholangitis. It has been described in only 20 patients from 11 different families worldwide. To expand the understanding of this as molecularly confirmed case India, we briefly summarize knowledge entity. Case summary: A 6-month-old male infant, born out non-consanguineous marriage presented with jaundice itching. On examination, child had scalp hypotrichosis, icterus, hepatosplenomegaly no ascites. The basic workup for aetiology cholestasis was negative. liver biopsy done which revealed confluent necrosis Porto-portal fibrosis without bile ductule proliferation. Genetic testing novel homozygous nonsense variation exon 1 CLDN1 gene (chr3: g.190322066G>T; Depth: 145x) that results stop codon premature truncation protein at 47 (p.Tyr47Ter; ENST00000295522.4) compatible NISCH syndrome. Treatment ursodeoxycholic acid lipo-soluble vitamins initiated. After six months follow-up, showed complete clinical recovery itching, but persisted. Conclusions: presenting rarely reported India. Phenotypic genotypic heterogeneity presentation observed cases. In our case, non-sense mutation identified ones earlier. best knowledge, second-ever clinically first-ever genetically Therefore, awareness new could be helpful further on early diagnosis patient