Nail-patella syndrome associated with respiratory chain disorder

被引：10

作者：

Finsterer, J

Stöllberger, C

Wanschitz, J

Jaksch, M

Budka, H

机构：

[1] Univ Vienna, Inst Neurol, A-1010 Vienna, Austria

[2] Krankenanstalt Rudolfstiftung Wien, Ludwig Boltzmann Inst Res Epilepsy & Neuromuscula, Vienna, Austria

[3] Krankenanstalt Rudolfstiftung Wien, Dept Med 2, Vienna, Austria

[4] Stadt Krankenhaus, Inst Clin Chem Mol Diagnost & Mitochondrial Genet, Munich, Germany

来源：

EUROPEAN NEUROLOGY | 2001年 / 46卷 / 02期

关键词：

mitochondria; genetics; muscle; echocardiography;

D O I：

10.1159/000050770

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Nail-patella syndrome (NIPS) has not been described to be associated with a respiratory chain disorder (RCD) before. In a 42-year-old man with the typical phenotype of an NPS, weakness and wasting of the shoulder girdle muscles, muscle cramps, fatigability, hyperhidrosis, chest pain and creatine kinase elevation were observed. Echocardiography revealed left ventricular hypertrabeculation. Needle electromyography was myopathic, lactate stress testing was abnormal, muscle biopsy showed typical features of an RCD and mtDNA analysis revealed the A3243G MELAS mutation. In conclusion, this case demonstrates that NIPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS. Copyright (C) 2001 S. Karger AG, Basel.

引用

页码：92 / 95

页数：4

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