676 Fetal Ascites in Niemann-Pick Type C: A Rare and Grim Presentation of the Disease
| Autor: | Lilia Lykopoulou, H Michelakakis, D Lazopoulou, A Zellos, F M Chantzi |
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| Rok vydání: | 2010 |
| Předmět: | |
| Zdroj: | Pediatric Research. 68:344-345 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-201011001-00676 |
| Popis: | Niemann-Pick TUTTOU C (NPC) is an autosomal recessive sphingomyelin storage disorder with wide clinical spectrum, having however as a common denominator the progressive and fatal neurovisceral degeneration. The presenting case involves a term female infant with history of fetal ascites that was referred for severe dystrophy and malnutrition. She is the first born infants of healthy, unrelated parents without family history of inherited disease. At birth she weighted 2590g and had pronounced hepatosplenomegaly and mixed jaundice She was hospitalized in NICU until two months of age for extrauterine growth retardation. At admission, she was floppy with excessive ascites and hepatosplenomegaly and concomitant non-obstructive portal hypertension There were no dysmorphic features Other causes of fetal ascites and metabolic disorders associated with liver disease in infancv were excluded by appropriate investigations, but electron microscopy of liver biopsy revealed findings consistent with NPC, which was confirmed after fillipin stain on cultured skin fibroblasts There was moderate increase of chitotriosidase enzyme Bone marrow aspirate was normal. The patient apart from the required symptomatic therapies, the last one year she has been receiving Miglustat, and at the age of 2 years is presenting psychomotor, neurological and biochemical improvement, but continuing to have growth deceleration Eye movements remain normal. This case is reported because fetal ascites is a relatively rare clinical presentation of NPC with poor prognosis However, the early use of Miglustat, prior to presentation of the characteristic neurologic signs of the disease, may lead to improvement in life quality. |
| Databáze: | OpenAIRE |
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