ATYPICAL PRESENTATION OF CARNITINE PALMITOYLTRANSFERASE (CPT) DEFICIENCY AS STATUS EPILEPTICUS

被引：12

作者：

SHINTANI, S

SHIIGAI, T

SUGIYAMA, N

机构：

[1] TORIDE KYODO GEN HOSP,DEPT INTERNAL MED,TORIDE,IBARAKI 302,JAPAN

[2] NAGOYA CITY UNIV,SCH MED,DEPT PEDIAT,NAGOYA,AICHI 467,JAPAN

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1995年 / 129卷 / 01期

关键词：

CARNITINE PALMITOYLTRANSFERASE DEFICIENCY; STATUS EPILEPTICUS;

D O I：

10.1016/0022-510X(94)00223-B

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 23-year-old Japanese man presented with status epilepticus unresponsive to medication, respiratory failure, rhabdomyolysis, myoglobinuria, and irreversible renal failure. Muscle biopsy revealed type 1 fiber atrophy and an increased type 2C fibers (7%). His carnitine palmitoyltransferase (CPT) I and II activities were 0.06 and 0.12 nmol/min/mg protein, as compared with a mean value of 0.22 +/- 0.14 and 0.27 +/- 0.07 nmol/min/mg protein, respectively, in control subjects. This appears to be the first report of this disorder presenting as status epilepticus. Metabolic encephalopathy due to CPT deficiency may have presented as status epilepticus. Seizures in the present case may have resulted from the functional disorder of brain due to CPT deficiency.

引用

页码：69 / 73

页数：5

共 21 条

[1] DISORDER OF MUSCLE LIPID-METABOLISM AND MYOGLOBINURIA - ABSENCE OF CARNITINE PALMITYL TRANSFERASE [J].