A Rare Genetic mutation presenting as Schwachman Diamond Syndrome

Dr Greeshma K. Nair; Dr Sameer Pawar; Dr Uday Rajput; Dr Aarti Kinikar

Volume : IX, Issue : VIII, August - 2020

A Rare Genetic mutation presenting as Schwachman Diamond Syndrome

Dr Greeshma K. Nair, Dr Sameer Pawar, Dr Uday Rajput, Dr Aarti Kinikar

Abstract :

Schwachman Diamond Syndrome is an extremely rare genetic condition with autosomal recessive inheritance characterized by multisystem involvement with considerable phenotypic variation(1). Its epidemiology is not well studied in Asia. Only 65cases have been reported from Asia most of them from Japan(1). Life span is usually 35 years but those with haematological complications have reduced life expectancy(2). We report to you a case of 14 month old boy with complaints of chronic diarrhoea and not gaining weight with previous history of multiple admissions for pneumonia, diarrhoea transfusions for severe anaemia since last 7- 8 months. Baseline investigations were suggestive of bicytopenia initially and later progressed to pancytopenia and hence bone marrow examination was done which was suggestive of bone marrow failure together with features of malabsorption lead to suspicion of Schwachman Diamond syndrome and hence genetic study was done which showed DNAJC21 gene mutation which is a rare mutation causing Schwachman Diamond Syndrome which has not been reported before to the best of our knowledge. Our case highlights that for diagnosis of such a rare genetic disorder requires a high index of suspicion as the cost for investigation is high and hence to come to a diagnosis on such a presentation due to its multisystem involvement is very crucial for early intervention and cure and reports a rare mutation of Schwachman Diamond Syndrome.