Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.
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.
Al-Idrissi
Eman
E
Department of Immunology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
ElGhazali
Geyhad
G
Alzahrani
Mofarah
M
Ménasché
Gaël
G
Pachlopnik Schmid
Jana
J
Basile
Geneviève de Saint
Gde S
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
D048868:Adaptor Proteins, Signal Transducing; C492410:MLPH protein, human