ABSTRACT
Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder related to recurrent episodes of rhabdomyolysis. The adult myopathic form of CPT II deficiency is relatively benign and difficult to diagnose. The point mutation S113L in CPT2 is very common in Caucasian patients, whereas F383Y is the most common mutation among Japanese patients. We herein present a case of CPT II deficiency in a Japanese patient homozygous for the missense mutation S113L. The patient showed a decreased frequency of rhabdomyolysis recurrence after the administration of a diet containing medium-chain triglyceride oil and supplementation with carnitine and bezafibrate.
Subject(s)
Bezafibrate/therapeutic use , Carnitine O-Palmitoyltransferase/deficiency , Carnitine/therapeutic use , Dietary Supplements , Lipid Metabolism, Inborn Errors/diet therapy , Metabolism, Inborn Errors/diet therapy , Rhabdomyolysis/diagnosis , Asian People , Bezafibrate/blood , Carnitine/blood , Carnitine O-Palmitoyltransferase/blood , Carnitine O-Palmitoyltransferase/genetics , Homozygote , Humans , Lipid Metabolism, Inborn Errors/blood , Lipid Metabolism, Inborn Errors/genetics , Male , Metabolism, Inborn Errors/blood , Metabolism, Inborn Errors/genetics , Middle Aged , Point Mutation , Rhabdomyolysis/diet therapy , Rhabdomyolysis/genetics , Treatment OutcomeABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary and progressive small-vessel disease caused by NOTCH3 mutations, pathologically characterized by the degeneration of vascular mural cells, white matter changes, and ischemic strokes. Recently, dysautoregulation has received increasing attention regarding the pathogenesis of stroke in CADASIL. Here, we report a CADASIL case with a novel Cys323Trp mutation in the NOTCH3 gene, which suggests a close relationship between hemodynamic factors and clustering of cerebral infarctions in CADASIL. A 47-year-old male patient presented with internal border-zone infarcts in the bilateral hemispheres and was diagnosed with CADASIL by the presence of granular osmiophilic material and the accumulation of the Notch3 extracellular domain around small vessels. A literature review revealed 7 reports of similar CADASIL cases with clustering of cerebral infarctions related to blood pressure fluctuations. Not only large-artery stenosis but also small-vessel pathologies potentiate watershed infarctions, which might be triggered by hemodynamic fluctuation due to cerebral dysautoregulation.
