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


Al-Idrissi, E; ElGhazali, G; Alzahrani, M; Ménasché, G; Pachlopnik Schmid, J; Geneviève de Saint, B (2010). Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. Journal of Pediatric Hematology/Oncology, 32(6):494-496.

Abstract

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.

Abstract

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:August 2010
Deposited On:20 Jan 2011 07:06
Last Modified:07 Dec 2017 06:04
Publisher:Lippincott Wiliams & Wilkins
ISSN:1077-4114
Additional Information:This a non-final version of an article published in final form in Journal of Pediatric Hematology/Oncology vol.32:6, p. 494-496
Publisher DOI:https://doi.org/10.1097/MPH.0b013e3181e34dc9
PubMed ID:20661159

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