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J Pediatr Hematol Oncol. 2010 Aug;32(6):494-6. doi: 10.1097/MPH.0b013e3181e34dc9.

Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.

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  • 1Department of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

Erratum in

  • J Pediatr Hematol Oncol. 2011 May;33(4):319.

Abstract

SUMMARY:

A preterm neonate, born to consanguineous parents, presented with respiratory distress, intracerebral hemorrhage, and a silvery-gray sheen of the hair and eyelashes. Griscelli syndrome (GS) type 3 was diagnosed after the detection of a novel homozygous mutation of the melanophilin gene. Thus, only the hypopigmentation, but not the patient's other clinical features, were attributable to this form of GS. Differential diagnosis of the various forms of GS must be performed as early as possible as GS2 is associated with a life threatening but curable immune disorder.

PMID:
20661159
[PubMed - indexed for MEDLINE]
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