title: Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.
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.
authors.affiliation: Department of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Eman
authors.initials: E
authors.lastname: Al-Idrissi
authors.forename: Geyhad
authors.initials: G
authors.lastname: ElGhazali
authors.forename: Mofarah
authors.initials: M
authors.lastname: Alzahrani
authors.forename: Gaël
authors.initials: G
authors.lastname: Ménasché
authors.forename: Jana
authors.initials: J
authors.lastname: Pachlopnik Schmid
authors.forename: Geneviève de Saint
authors.initials: Gde S
authors.lastname: Basile
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002543:Cerebral Hemorrhage / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D016116:Piebaldism / Q000235:genetics* / Q000503:physiopathology; D047928:Premature Birth; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C492410:MLPH protein, human