Akbar Malik, Sajid MaqbooI, Sheraz Younis.
A case of Schwachman Syndrome.
Pak Paed J Jan ;21(2):103-4.

Zarina Habib, a nine year Old female child presented with a history of diarrhoea since two months of age, failure to thrive and bleeding from the gums off and on for the last six years. The stools were reported to be foul smelling, bulky, sticky and floating on water. No association with any particular food substance was known. Six months before the visit she was diagnosed to have type I Diabetes Mellitus and has been on insulin since. For the last three months she has high grade fever off and on had has developed jaundice. She has received multiple blood transfusions and develops hematuria after receiving each transfusion. Her birth history is insignificant. She was breast fed for one month after which she was put on Buffalo milk. She has two siblings who are healthy. Her parents are first cousins but family history is negative for similar complaints. The only positive persistent investigative findings since her early childhood were thrombocytopenia and hypochromic microcytic anaemia. Her white blood cell count and morphology were normal, immunoglobulin levels were also within the normal range and sweat chloride test was repeatedly negative. She had not responded to Gluten-free diet. On the basis of failure to thrive exocrine pancreatic insufficiency thrombocytopenia and variable neutropenia with normal sweat chlorides and immunoglobulin levels, a diagnosis of Schwachman syndrome was made.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com