Niemann-Picks disease in a child with massive hepato-spleenomegaly
Niemann-pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities involving liver, spleen, lymph nodes, nervous system, lungs and bone marrow. This disease occurs due to accumulation of sphingomyelin in various tissues. Our patient was a 10 month who boy pre...
Saved in:
| Published in | International Journal of Contemporary Pediatrics Vol. 9; no. 2; p. 215 |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | English |
| Published |
24.01.2022
|
| Online Access | Get full text |
Cover
Loading…
| Summary: | Niemann-pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities involving liver, spleen, lymph nodes, nervous system, lungs and bone marrow. This disease occurs due to accumulation of sphingomyelin in various tissues. Our patient was a 10 month who boy presented with hepatosplenomegaly. Cherry red spot was found on ophthalmologic examination. Niemann-Pick cell was confirmed on bone marrow examination and lysosomal studies. A good clinical examination led us to the diagnosis of Niemann-Pick disease. |
|---|---|
| ISSN: | 2349-3283 2349-3291 |
| DOI: | 10.18203/2349-3291.ijcp20220097 |