case report: Refsum's disease

Refsum's disease is an autosomal recessive disorder. The clinical features include retinitis pigmentosa, blindness, anosmia deafness, ataxia and accumulation of phytanic acid in plasma. A 12-year old boy presented with retinitis pigmentosa, sensorineural deafness and distal lower limb weakness and wasting two years ago. Physical examination did not reveal an objective area of sensory loss. We detected muscles wasting in bilateral legs. Deep tendon reflexes at the ankles and knees were absent bilaterally. Upper limb reflexes were decreased and his gait was ataxic. In electrodiagnostic study, findings were compatible with motor and sensory neuropathy. Phytanic acid in serum analysis was highly raised. Although rare, Refsum's disease is partially treatable and early recognition may prevent visual and auditory deterioration

A Case of Neonatal Adrenoleukodystrophy Presented with Neonatal Seizure / 대한소아신경학회지

Neonatal adrenoleukodystrophy(NALD) is an inherited autosomal recessive disease characterized by very early onset of neurologic deterioration, extreme hypotonia, poor sucking reflex, failure to thrive, poor or absent grasp and Moro reflexes, diminished deep tendon reflexes, neonatal seizure refractory to antiepileptic drugs, progressive hepatomegaly, and mild or absent craniofacial dysmorphism. In the peroxisomal biogenesis disorders, whose basic defect are the incapabilities to import one or more proteins into the organelle, include Zellweger syndrome(ZS), NALD, and infantile Refsum disease(IRD). These are now thought to represent a continuous spectrum of disease severity, ZS the most severe, IRD the least severe, and NALD intermediate. Furthermore, their biochemistry and microscopic pathology are nearly identical. The biochemical abnormalities of NALD are the elevated levels of very long chain fatty acid(VLCFA), phytanic acid, pristanic acid, pipecolic acid in plasma, cultured skin fibroblasts, and reduced plasmalogen contents in erythrocytes. There are no effective treatments until now. We experienced an one day old neonate with hypotonia and seizure, who was diagnosed as NALD by elevated plasma VLCFA. So we report the case with a brief review of literature.

A Case of Rhizomelic Chondrodysplasia Punctata Type I

Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type II(PST2) receptors and presents with both a defect in plasmalogen biosynthesis and phytanic acid oxidation. RCDP type II is deficient in the activity of dihydroxyacetonephosphate acyltransferase(DHAP-AT). RCDP type III is deficient in alkyl-dihydroxyacetonephosphate synthase(alkyl-DHAP). We report a case of RCDP type I which was confirmed with biochemical study, fibroblast culture, and gene study.

Acidos grasos esenciales en la producción actual de oleaginosas de la República Argentina: posibilidades futuras de diversificación / Essential fatty acids in the present vegetable oils production of the República Argentina: future possibiities in the diversification trends production

Se presenta un resumen de los logros alcanzados durante casi 50 años en un tema fundamental del conocimiento de las características de composición acídica de aceites vegetales de producción masiva en la república Argentina. Su desarrollo, en parte coincidente con la evolución del conocimiento analítico, ha sido de utilidad a la nutrición, normalización, legislación alimentaria, tecnología, uso y contralor de aceites vegetales y de pulpa de frutos. El progreso observado en los avances de modernas técnicas de la Biotecnología tiende a una apertura en la diversificación de la producción