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

Journal of Pediatric Hematology/Oncology: August 2010 - Volume 32 - Issue 6 - p 494-496
doi: 10.1097/MPH.0b013e3181e34dc9
Clinical and Laboratory Observations

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.

*Department of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia

Inserm, U768, Hôpital Necker Enfants Malades

Hôpital Necker Enfants-Malades, Unité d'Immunologie et Hématologie Pédiatrique, Paris, France

Supported by grants from the Institut National de la Santé et de la Recherche Médicale (INSERM), the Agence Nationale de la Recherche (ANR-08-Genopat), and the Fondation pour la Recherche Médicale (Equipe labélisée FRM 2007). Jana Pachlopnik Schmid received grants from the Fondazione Ettore e Valeria Rossi and the Walter and Gertrud Siegenthaler Stiftung.

Reprints: Geyhad ElGhazali, MD, PhD, Department of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia (e-mail:

Received for publication September 24, 2009; accepted March 13, 2010

Eman Al-Idrissi and Geyhad ElGhazali contributed equally to this work.

© 2010 Lippincott Williams & Wilkins, Inc.