A RARE CASE OF TYPE II GRISCELLI SYNDROME

Iram Fatima, Marya Hameed, Muniba Jalil, Muhammad Fasih Mansuri, Syed Shariq Ullah, Muhammad Hamza Khan

Abstract


Griscelli syndrome type II (GS type II) is a rare autosomal recessive disorder that presents with hypo-pigmentation of the skin and hair, immunodeficiency and neurological impairment. It is caused by a mutation in RAB27A gene responsible for vesicular trafficking and is often associated with hemophagocytic lymphohistiocytosis (HLH). We present a case of a one-and-a-half-year-old patient having hypo-pigmented silver gray hair of the scalp, eyebrows and eyelashes. Labs were suggestive of inflammatory etiology. MRI imaging revealed edematous changes in the brainstem, basal ganglia and cerebellar hemispheres. Although the initial neurological exam was normal, patient later developed fits, which was suggestive of autoimmune or infectious etiology in the central nervous system, and the rapidly deteriorating condition implied aggressive disease.

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References


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