Griscelli syndrome, type 1

Patients have partial pigmentary dilution or albinism with silvery gray hair, frequent infections, neurologic abnormalities. Neurologic symptoms consist of hypotonia, absence of coordinated voluntary movements and severe retarded psychomotor development. Central nervous system disorder is stable and never regresses with time. Hair shafts contain an accumulation of large pigment granules. No immunological abnormalities have been observed. Patients never develop an accelerated phase. At computer tomograph (CT) scanning and magnetic resonance imaging (MRI) patients have isolated congenital cerebellar atrophy.


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