Introduction: Griscelli syndrome is a pathological condition with immunodeficiency and is characterised by hepatosplenomegaly, silvery hair, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia. It is inherited by autosomal recessive transmission and is diagnosed using the histopathological findings from a skin biopsy, characterised by hyperpigmentation with accumulations of melanin, associated to the manifestations described.
Case report: We report on the first case identified in Mexico: the patient, who presented silvery hair, hepatosplenomegaly and pancytopenia, was a member of a family with two children and had no noteworthy antecedents. From the ninth month onwards there was a fast progression of the neurological deterioration, which was characterised by epileptic seizures and flaccid quadriparesis that progressed quickly to a state of coma. Magnetic resonance imaging revealed demyelination of the white matter, mainly in the bilateral frontotemporal area; skin biopsy showed hyperpigmentation with accumulations of melanin.
Conclusions: Immunodeficiencies are serious problems, but associated with dermatological, haematological and neurological data, accompanied by findings obtained by paraclinical haematological explorations, by neuroimaging and skin biopsies, it is possible to establish the proper diagnosis in order to improve quality of life and the progress of the disease. This can be achieved by bone marrow transplant (until now the only therapy available) but it must be performed early and not when the disease is at an advanced stage, when the possibility of recovery becomes more remote