• Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Griscelli syndrome (GS) (MIM 214450) is a rare au- tosomal recessive genetic disorder characterized by partial albinism with silvery gray hair, recurrent in- fections, cellular immunodeficiency and neurologi- cal abnormalities. Acute disseminated encephalom- yelitis (ADEM) is a monophasic, immune-mediated disorder that produces multifocal demyelinating le- sions within the central nervous system. We report a three years and six months old girl patient with GS who presented ADEM. GS was diagnosed when she was six months old. She was admitted to hospi- tal because of ataxia, gait disturbance and somno- lence for four days. The physical examination reve- aled hyperreactive deep tendon reflexes, lower limb power was grade 3/5, bilaterally positive Achilles' clonus and Babinsky's sign. Laboratory investigati- ons including complete blood cell count, serum bi- ochemistry analysis, fibrinogen level and bone marrow examination were all within normal limits. The cerebrospinal fluid showed no pleocytosis with increased protein level. Brain and spinal magnetic resonance imaging (MRI) revealed multifocal ab- normal high-signal intensity mainly in the white matter of the cerebellum, brainstem and spinal cord as well as in the cerebrum. The typical MRI ÖZET
  • Source

  • Source

    The American Journal of Human Genetics 11/2002; 3(5). DOI:10.1086/344141 · 10.93 Impact Factor
Show more

Similar Publications


9 Reads
Available from