Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chediak-Higashi syndrome in Chinese has not been previously reported in the English literature. A 14-month Chinese girl who presented with partial oculocutaneous albinism and Pseudomonas infection was found to have the classical intracytoplasmic inclusion bodies in the leucocytes by light and electron microscopy. Other characteristic features typical of this syndrome included hepatosplenomegaly, defective chemotaxis, and coarse but sparse melanin granules in hair shaft. She was also found to have hypertriglyceridaemia, a rare lipid abnormality occasionally reported in children suffering from this syndrome. Despite vigorous therapy with high dose ascorbate, corticosteroid and intravenous antibiotics, she died in the accelerated phase of Pseudomonas septicaemia.
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PMID:Chediak-Higashi syndrome in a Chinese infant. 687 Jul 3