Patient with unusual Hutchinson-Gilford syndrome (progeria).
A patient with unusual Hutchinson-Gilford syndrome (progeria) is reported. This 7-year-old boy had all the characteristics of progeria, except for coxa valga and the "horse-riding" stance. A previous cerebral infarction was detected in the right putamen on cranial magnetic resonance imaging. During treadmill exercise test electrocardiography, ST depression suggested the existence of arteriosclerotic lesions. Skin fibroblast culture exhibited 76% DNA-repair capacity compared to normal. He has not manifested endocrinologic abnormalities. From these findings it is concluded that this patient has an incomplete case of Hutchinson-Gilford syndrome and that a correlation may exist between the clinical features and the degree of DNA-repair capacity.
Matsuo
S
S
Department of Pediatrics, Children's Research Hospital, Kyoto, Japan.
Takeuchi
Y
Y
Hayashi
S
S
Kinugasa
A
A
Sawada
T
T
D001706:Biopsy; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002648:Child; D003324:Coronary Artery Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004260:DNA Repair / Q000235:genetics*; D003937:Diagnosis, Differential; D004562:Electrocardiography; D005080:Exercise Test; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D011371:Progeria / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D011699:Putamen / Q000473:pathology; D012867:Skin / Q000473:pathology