Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?
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.
Saito
Yoshiaki
Y
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago 683-8504, Japan. saitoyo@grape.med.tottori-u.ac.jp
Toyoshima
Mitsuo
M
Oka
Akira
A
Zhuo
Luan
L
Moriwaki
Shin-ichi
S
Yamamoto
Osamu
O
Kanzaki
Susumu
S
Hanaki
Kei-ichi
K
Ninomiya
Haruaki
H
Nanba
Eiji
E
Kondo
Akiko
A
Maegaki
Yoshihiro
Y
Ohno
Kousaku
K
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