[A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis].
The patient was a 23-year-old woman. She was the product of a full-term pregnancy and normal delivery. At age 3, she was observed to have eruptions on the face and extremities. Gait disturbance and abnormal posture appeared when she was 17-year-old. Mental deterioration followed several years later, and these symptoms progressed gradually. On examination at age 23, mixture of hyperpigmented and hypopigmented macules were observed on the face and the dorsal aspects of the extremities. We diagnosed her skin lesion as dyschromatosis symmetrica hereditaria (DSH) based on dermatological findings, normal minimal erythema dose and normal unscheduled DNA synthesis of her skin fibroblasts. Neurologically, she showed moderate mental deterioration, dystonic posture, dystonic and spastic gait, and generalized hyperreflexia. Laboratory examinations, including parathyroid function, were normal. Brain CT scan revealed severe symmetrical calcifications in the basal ganglia, cerebral white matter, and dentate nucleus. She also showed aplasia of dental root and aortic valve sclerosis. Her father also revealed the same clinical features including skin lesion, movement disorder, mental deterioration, and severe aortic valve calcification. So we diagnosed this patient as familial idiopathic brain calcification associated with DSH, aplasia of dental root, and aortic valve sclerosis. Constellation of these clinical features does not match any previously established type of familial idiopathic brain calcification or hereditary dystonia. However, Patrizi et al reported a patient with DSH associated with torsion dystonia who was very similar to our patient. We propose that our patient and the patient reported by Patrizi et al construct a distinct clinical entity in familial idiopathic brain calcification or hereditary dystonia.
Tojyo
K
K
Third Department of Medicine, Shinshu University School of Medicine.
Hattori
T
T
Sekijima
Y
Y
Yoshida
K
K
Ikeda
S
S
D000328:Adult; D001021:Aortic Valve / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000150:complications*; D002114:Calcinosis / Q000150:complications*; D004421:Dystonia / Q000150:complications; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008279:Magnetic Resonance Imaging; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics*; D012598:Sclerosis / Q000150:complications; D014092:Tooth Root / Q000002:abnormalities*