Griscelli Syndrome: Case Report
DOI:
https://doi.org/10.5377/pediatrica.v9i2.8807Keywords:
Hemagafagocitic syndrome, Griscelli syndrome, seizures, albinismAbstract
The griscelli syndrome is a rare entity, it is included within the syndromes of silver hairs and is characterized by partial albinism. It was described in 1978 in two patients by Griscelli et al. Since then, more than 40 cases have been described in the literature. It is an autosomal recessive disease. It is classified into three different types. The treatment will depend on the type that is within this classification, as well as your prognosis. Clinical case: A 1-year-old patient who was admitted to the Mario Catarino Rivas Hospital with a history of seizures and somnolence, with a respiratory disease. Hospital antecedent due to severe pneumonia, and silver hair color from birth. Discussion: cases of griscelli syndrome in Honduras are extremely rare, this patient is admitted to this institution due to neurological manifestations secondary to his disease, looking at his fenotype, he was investigated for this syndrome.
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