A case of Niemann-Pick disease type A / 소아과
Korean Journal of Pediatrics
;
: 1358-1362, 2006.
Artículo
en Inglés
| WPRIM
| ID: wpr-157930
ABSTRACT
Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Neumonía
/
Asfixia
/
Atrofia
/
Lóbulo Temporal
/
Tálamo
/
Biopsia
/
Médula Ósea
/
Encéfalo
/
Imagen por Resonancia Magnética
/
Enfermedades de Niemann-Pick
Tipo de estudio:
Estudio diagnóstico
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2006
Tipo del documento:
Artículo
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