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    • "Mutations in RAB27A result in hemophagocytic abnormalities and thereby result in (GS) type 2, manifested as silvery hair with immunological defects[6]. Mutations in MYO5A (an actinbased motor molecule, required for pigmentation and synaptic activity in the central nervous system) result in pigmentary dilution along with neurological abnormalities, designated as (GS) type 1[7,8,9]. Prognosis for long-term survival of patients with GS is relatively poor, and GS2 is usually rapidly fatal within 1–4 years without treatment[10,11]. "
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    ABSTRACT: Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present. We report a 10-year-old girl with silver-leaden (silvery) hair, bronze skin color on sun-exposed areas, generalized hypopigmentation of covered body parts, and congenital seizures. The child was the elder of two children born of a consanguineous marriage. The younger sibling, a female neonate, had the same clinical presentation.
    Full-text · Article · Mar 2015 · Dermatology online journal
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    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
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