Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.

Gaucher's disease is the most common lysosomal storage disease which occurs due to a deficiency of the enzyme glucocerebrosidase. This enzyme deficiency leads to accumulation of glucocerebrosidase in the cells of macrophage-monocyte system. It is inherited as an autosomal recessive mutation and has three clinical subtypes. The disease presents with anaemia, hepatosplenomegaly, skeletal disorders and organ dysfunction. We present the case of an 18- month old male child who had presented to Civil Hospital, Karachi with fever, progressive pallor, abdominal distention for 6 months and was diagnosed as a case of type 1 Gaucher's disease on the basis of low leukocyte glucocerebrosidase activity, raised plasma chitotriosidase and the presence of Gaucher cells on bone marrow biopsy. The disease was treated with Intravenous replacement of the enzyme Imiglucerase (cerezyme) and the patient was followed. An informed Consent of the parents was taken prior to the writing of the manuscript.

Paediatrics primary myelofibrosis and acute stroke: A rare presentation.

Idiopathic Myelofibrosis is a rare myeloproliferative disorder. In children, it becomes even rarer. Herein, we report a case of idiopathic myelofibrosis of a 6-year old male patient who presented with complaints of pallor, petechiae and bleeding from gums. Bone marrow aspirate showed afragmented haemodiluted smears with erythroid and myeloid precursors scattered throughout. Trephine biopsy showed increased background fibrotic activity along with clusters of histiocytes. A diagnosis of paediatric primary myelofibrosis was made on biopsy. The patient also developed a stroke that resulted in left-sided hemiparesis. An MRI suggested an intraparenchymal haemorrhage along with meningeal extramedullary haematopoiesis.