Skip Navigation LinksHome > August 2010 - Volume 32 - Issue 6 > Premature Birth, Respiratory Distress, Intracerebral Hemorrh...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e3181e34dc9
Clinical and Laboratory Observations

Premature Birth, Respiratory Distress, Intracerebral Hemorrhage, and Silvery-gray Hair: Differential Diagnosis of the 3 Types of Griscelli Syndrome

Al-Idrissi, Eman MD*; ElGhazali, Geyhad MD, PhD*; AlZahrani, Mofarah MD*; Ménasché, Gaël PhD; Schmid, Jana Pachlopnik MD, PhD† ‡; Basile, Geneviève de Saint MD, PhD† ‡

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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.

© 2010 Lippincott Williams & Wilkins, Inc.


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