Haematology Watch

 

 

NIEMANN-PICK DISEASE

Umar Zahur

                                          

A 7 months old male child was brought from Abbottabad with:

C/O: Loose stools and Fever off and on for the last 6 months.

On examination he had Hepatomegaly 10 cm, Splenomegaly 5 cm, Delayed milestones, and Fundoscopy showed Cherry-Red spots.

His bone marrow aspirate from Tibial tuberosity was advised which showed following result:

   Aspiration: Difficult

  Cellularity: Fairly cellular

  Myelopoiesis: Normal maturation

  Erythropoiesis: Normoblastic

  M:E ratio: 2.5

  Megakaryocytes: Normal

  Abnormal cells: Niemann-Pick cells seen

  Iron: Present

  OPINION: NIEMANN-PICK DISEASE

  COMMENTS: SPHINGOMYELINASE LEVELS IN FIBROBLASTS.