Search

CONTEXT: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing. CASE REPORT: We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy.

CONTEXT AND OBJECTIVE: Lhermitte's sign, a classical neurological sign, is a rare manifestation of vitamin B12 deficiency. The aim here was to report on a case of an elderly patient with vitamin B12 deficiency whose first clinical manifestation was the presence of Lhermitte's sign. CASE REPORT: We describe an elderly patient with vitamin B12 deficiency who presented cognitive dysfunction, peripheral polyneuropathy and sensory ataxia, and whose first clinical manifestation was the presence of Lhermitte's sign. This sign is one of the rarest manifestations of vitamin B12 deficiency.

CONTEXT AND OBJECTIVE: Pressure ulcers are lesions caused by inadequate blood flow and tissue malnourishment secondary to prolonged pressure on skin, soft connective tissues, muscle and/or bones. The authors report two distinct clinical situations of severely compromised neurological patients who shared several predisposing factors for pressure ulcers, but with opposite outcomes regarding the development of pressure ulcers. CASE REPORTS: The first case was a young patient in a persistent vegetative state who developed pressure ulcers that resulted in secondary sepsis and death. The second case was a patient with a diagnosis of amyotrophic lateral sclerosis who, in spite of being bedridden for several months with severe immobility, never developed pressure ulcers. These intriguing contrary clinical situations had already been defined by Charcot in the nineteenth century, with his creation of the expression "decubitus ominosus". He indicated that patients with amyotrophic lateral sclerosis usually did not develop this form of complication, as was illustrated by the cases presented here.