title: Intracranial calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report.
abstract: A 15-year-old boy presenting with epilepsy, optic atrophy and intracranial calcifications was diagnosed as having metaphyseal dysplasia by bone X-ray examinations. The patient had no laboratory data suggesting other metabolic or endocrinologic disorders. In addition, CT scans showed unique intracranial calcifications of the corpus callosum and periventricular and subcortical white matter, which were distinct from those of previously reported disorders. This case may represent a unique subset or a new type of metaphyseal dysplasia associated with intracranial calcifications and central nervous system symptoms.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Tottori University School of Medicine, Yonago city, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ohtagaki
authors.forename: T
authors.initials: T
authors.lastname: Hara
authors.forename: Y
authors.initials: Y
authors.lastname: Maegaki
authors.forename: K
authors.initials: K
authors.lastname: Takeshita
mesh_terms: D000293:Adolescent; D002114:Calcinosis / Q000150:complications* / Q000000981:diagnostic imaging; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000000981:diagnostic imaging / Q000523:psychology; D006801:Humans; D007867:Leg Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D009896:Optic Atrophy / Q000150:complications* / Q000000981:diagnostic imaging / Q000523:psychology; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed