Atypical presentation of carnitine palmitoyltransferase (CPT) deficiency as status epilepticus.
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.
Shintani
S
S
Department of Neurology, Toride Kyodo General Hospital, Ibaraki, Japan.
Shiigai
T
T
Sugiyama
N
N
D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D013226:Status Epilepticus / Q000209:etiology*
D002334:Carnitine O-Palmitoyltransferase