title: Elejalde syndrome: clinical and histopathological findings in an Egyptian male.
abstract: Elejalde syndrome is a rare disorder. An Egyptian male patient with Elejalde syndrome is presented. He had silvery hair since birth, generalized hypopigmentation, severe primary central nervous system dysfunction, and normal hematological and immunologic profiles. Magnetic resonance of the brain revealed prominent cerebellar atrophy with mild fronto-parietal cortical atrophic changes. Microscopic analysis of his hair showed melanin clumps irregularly distributed along the hair shafts, and a skin biopsy showed increased pigmentation in the basal melanocytes. The differential diagnosis of silvery hair disorders includes Elejalde syndrome, Griscelli and Chediak-Higashi syndromes. In the present report, we review the literature on Elejalde syndrome and discuss the differential diagnosis.
authors: Clinical Genetics Department, National Research Centre, Dokki, Giza, Cairo, Egypt. hhafifi@hotmail.com
authors: H H
authors: HH
authors: Afifi
authors: M S
authors: MS
authors: Zaki
authors: G Y
authors: GY
authors: El-Kamah
authors: M
authors: M
authors: El-Darouti
mesh_terms: D001284:Atrophy; D001706:Biopsy; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006197:Hair / Q000473:pathology; D006801:Humans; D017496:Hypopigmentation / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008543:Melanins; D020460:Melanosomes / Q000235:genetics*; D008855:Microscopy, Electron, Scanning; D020752:Neurocutaneous Syndromes / Q000175:diagnosis / Q000235:genetics*; D012867:Skin / Q000473:pathology
chemical_list: D008543:Melanins