title: Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?
abstract: We report on an 8-year-old boy with mental retardation and spastic tetraparesis associated with atrophic skin on the face and extremities, telangiectasia, and severe dental caries. Basal ganglia calcification and multiple lesions in the subcortical white matter have been present since infancy. The patient has complications of liver dysfunction, multiple endocrine defects, and elevation of blood/cerebrospinal fluid lactate. Extensive laboratory examinations, including skin and muscle biopsies, and UV- and mitomycin C-sensitivity tests on fibroblasts, provided no evidence of a specific disease entity. No deterioration was noted, and supplementation of riboflavin and other vitamins had no apparent effect on the neurodevelopmental status of this patient. This patient may represent a novel disease entity, with unclear pathogenesis.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago 683-8504, Japan. saitoyo@grape.med.tottori-u.ac.jp
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Toyoshima
authors.forename: Akira
authors.initials: A
authors.lastname: Oka
authors.forename: Luan
authors.initials: L
authors.lastname: Zhuo
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Moriwaki
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamamoto
authors.forename: Susumu
authors.initials: S
authors.lastname: Kanzaki
authors.forename: Kei-ichi
authors.initials: K
authors.lastname: Hanaki
authors.forename: Haruaki
authors.initials: H
authors.lastname: Ninomiya
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Akiko
authors.initials: A
authors.lastname: Kondo
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
mesh_terms: D001479:Basal Ganglia / Q000473:pathology*; D001927:Brain Diseases / Q000150:complications* / Q000473:pathology*; D002114:Calcinosis / Q000150:complications*; D002648:Child; D004700:Endocrine System Diseases / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D012871:Skin Diseases / Q000150:complications*; D013684:Telangiectasis / Q000150:complications*; D014057:Tomography, X-Ray Computed