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Rare inherited disorder characterized by silvery hair, pigment abnormalities of the skin, and early-onset central nervous system dysfunction.

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Melanolysosomal Neurocutaneous Syndrome. (Caveat: The name Elejalde syndrome has also been used synonymously for Acrocephalopolysyndactylous Dysplasia. To avoid confusion, we recommend reserving this name for the syndrome described here.)

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Approximately 11 cases have been reported.

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Autosomal recessive. Candidate genes for Elejalde syndrome have been sought in a variety of genes involved in organellogenesis and intracellular trafficking. These genes are directly or indirectly involved in pigmentation disorders throughout the expression of adaptor-like protein complex(AP)-3 factor, which is involved in the budding of coated vesicles from the Golgi system.

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Abnormal melanocytes, melanosomes, and inclusion bodies in fibroblasts may be present. There are speculations that myosin V protein may be affected and probably responsible for the severe generalized hypotonia. The molecular basis of the disease remains to be elucidated.

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Light microscopy of the hair is characterized by the presence of small and large melanin clumps irregularly distributed along the hair shaft but predominantly in the medulla. Skin biopsy specimens may reveal a normal number of melanocytes but irregular distribution and irregular size of melanin granules in the basal layer. Electron microscopy of the skin reveals melanocytes with melanosomes of various sizes and at various developmental stages. Because of a maturation defect, melanization of the melanosomes is incomplete; however, in contrast to Griscelli and Chediak-Higashi Syndrome (the two other “Silvery Hair Syndromes”), both humoral and cellular immunity are normal.

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Scalp hair, eyelashes, and eyebrows are silver. Sun exposure leads to pronounced and long-lasting skin tanning. The age at onset of neurologic signs can range from 1 month to 11 years and include severe muscular hypotonia, ataxia, seizures, hyperreflexia or hyporeflexia, spastic or flaccid hemiplegia or quadriplegia, and ocular features (e.g., congenital amaurosis, nystagmus, diplopia, pupillary areflexia). Mental retardation with delayed psychomotor development usually is obvious in the first month of life. Magnetic resonance imaging can demonstrate cerebellar hypoplasia/atrophy.

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No data regarding anesthetic management or pharmacological implications in this disorder have been published. Seizure control, assessment of muscular hypotonia, and the potential presence of recurrent pulmonary aspirations are the main focus points in the preoperative evaluation. A chest radiograph might be indicated. Failure to thrive may be present secondary to poor feeding and results in electrolyte and fluid imbalances. Blood work should include serum levels of electrolytes. Depending on the type and extent of surgery, prolonged postoperative mechanical ventilation may be required. Mental retardation may limit patient cooperation. Sedative premedication and/or the presence of the primary caregiver during induction of anesthesia may be helpful.

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Recurrent aspiration is a described complication in this syndrome. A rapid-sequence induction technique is recommended. Severe hypotonia may require reduced amounts or no neuromuscular blocking agents. Positioning may be difficult in the presence of spastic paraplegia or tetraplegia.

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