refsum disease/asthenia

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Heredopathia atactica polyneuritiformis (phytanic acid storage disease). A new case with special reference to dietary treatment.

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Prijava / prijava

A 33-year-old man with Refsum disease exhibited clinical features of night blindness, dysequilibrium, hearing loss, itchy dry skin, symmetrical polyneuropathy, distal muscle weakness, pes cavus, and hammer toe. His total serum protein was increased, nerve conduction velocities were slow, and serum

Cataract surgery outcomes and complications in retinal dystrophy patients.

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Prijava / prijava

OBJECTIVE To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery. METHODS Retrospective chart review at an academic tertiary referral centre. METHODS Thirty eyes from 18 patients with retinitis

[Two siblings of Leber's congenital amaurosis with an increase in very long chain fatty acid in blood: relationship between peroxisomal disorders and Leber's congenital amaurosis].

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Prijava / prijava

We reported two siblings of Leber's congenital amaurosis associated with increased level of very long chain fatty acid (VLCFA) in blood. Case 1, a 3 1/2-year-old boy had congenital blindness, severe psychomotor retardation, hepatomegaly, profound hypotonia, loss of deep tendon reflexes, muscular

[A case of motor and sensory polyneuropathy with retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis].

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Prijava / prijava

We here report a 53-year-old man who presented with motor and sensory polyneuropathy, retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis (DISH). He had a 15-year history of diabetes mellitus (DM). Visual impairment appeared at 17 years of age. Since age 47, he showed a slowly

Metabolic neuropathies and myopathies.

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Prijava / prijava

Inborn errors of metabolism may impact on muscle and peripheral nerve. Abnormalities involve mitochondria and other subcellular organelles such as peroxisomes and lysosomes related to the turnover and recycling of cellular compartments. Treatable causes are β-oxidation defects producing progressive

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