We present an eleven-year-old female patient who was referred to us with silvery hair, hepatosplenomegaly,
neutropenia-
thrombocytopenia,
hypogammaglobulinemia and degenerative
white matter disease, with a family history of a female sibling dying at the age of five and two living male cousins, ages 10 and 11. She had been followed up for her
cytopenia the last three years and had totally recovered from a hemiplegic episode before admission. The family was of Arabic origin, and a second-degree consanguinity was reported between the parents. Microscopic analysis of her hair shafts revealed irregularly distributed small and large clumps of
melanin, and skin biopsy findings were consistent with
partial albinism. Bone marrow aspiration and biopsy did not detect any evidence of hemophagocytosis. Genetic analysis identified a homozygous two-base-pair deletion (51 del CT leading to S18X) in the Rab27A gene of the patient. She suffered from febrile neutropenic episodes. Her persistent
cytopenia could not be corrected with
immunoglobulin, thrombocyte infusions, or a short course of
growth factor treatment.
Splenectomy was planned due to her progressive splenic enlargement. She was also considered for
bone marrow transplantation. She unfortunately died from an
intracranial hemorrhage. Her clinical presentation was remarkable, mostly resembling
partial albinism immunodeficiency/
Elejalde syndrome due to her older age and absence of hemophagocytosis, but with molecular findings confirming Griscelli syndrome.