Asthma Allergy Immunology

Asthma Allergy Immunology

2009, Vol 7, Num, 1     (Pages: 079-084)

Acute disseminated encephalomyelitis in a child with Griscelli syndrome

Sevgi KELEŞ 1, İsmail REİSLİ 2, Kürşad AYDIN 3, Eylem ATILGAN GÜZEŞ 1,

1 Department of Pediatrics, Faculty of Meram Medicine, Selcuk University, Konya, Turkey
2 Department of Pediatric Immunology and Allergy, Faculty of Meram Medicine, Selcuk University, Konya, Turkey
3 Department of Pediatric Neurology, Faculty of Meram Medicine, Selcuk University, Konya, Turkey

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Griscelli syndrome (GS) (MIM 214450) is a rare autosomal recessive genetic disorder characterized by partial albinism with silvery gray hair, recurrent infections, cellular immunodeficiency and neurological abnormalities. Acute disseminated encephalomyelitis (ADEM) is a monophasic, immune-mediated disorder that produces multifocal demyelinating lesions 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 hospital because of ataxia, gait disturbance and somnolence for four days. The physical examination revealed hyperreactive deep tendon reflexes, lower limb power was grade 3/5, bilaterally positive Achilles` clonus and Babinsky`s sign. Laboratory investigations including complete blood cell count, serum biochemistry 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 abnormal high-signal intensity mainly in the white matter of the cerebellum, brainstem and spinal cord as well as in the cerebrum. The typical MRI findings and an acute monophasic clinical course of this case led to a diagnosis of ADEM. Patient was treated with high dose corticosteroids, but she was died in seventh days of the therapy. ADEM and GS association has not been reported previously to the best of our knowledge. ADEM also should be mind when a child with GS was encountered neurological findings.

Keywords : Griscelli syndrome, acute disseminated encephalomyelitis, children