Neonatal Gaucher Disease Presenting as Persistent Thrombocytopenia
نویسندگان
چکیده
منابع مشابه
Osteopetrosis Presenting with Neonatal Thrombocytopenia: A Case Report
Background: Osteopetrosisis an inherited and rare bone disease, characterized by the impairment ofbone modeling and remodeling and the failure of osteoclasts to resorb bone. It also results in skeletal fragility despite increased bone mass, and may cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. The infantile form of the disease is...
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Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who pres...
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Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms related to hypersplenism, such as splenomegaly, anaemia, thrombocytopenia and leucopenia. Skeletal d...
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متن کاملNon-neuropathic Gaucher disease presenting in infancy.
The non-neuropathic form of Gaucher's disease was diagnosed in 11 children of non-Jewish ancestry in South Africa; all were under the age of 4. None had any neurological involvement and, apart from the precocious presentation and rapid course, the features in each resembled those of the classical 'adult' or chronic non-neuropathic form of Gaucher disease. By contrast, the condition presented af...
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ژورنال
عنوان ژورنال: Journal of Perinatology
سال: 2005
ISSN: 0743-8346,1476-5543
DOI: 10.1038/sj.jp.7211262