Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 29-year-old man complained of increasing paraplegia and sphincter disturbances. On admission, he was 23 years old. He had moderate pigmentation of the skin, and his neurological examinations revealed spastic paraplegia, hyperreflexia of both legs with Babinski's signs, a pinprick sensation deficit below the L-1 level, loss of vibration sense in the lower extremities and horizontal nystagmus on lateral gaze. Endocrinological examinations revealed adrenocortical insufficiency. CSF, EEG, EMG, brain-CT and myelography did not show any abnormalities, but metrizamide CT myelography at the low thoracic spinal cord revealed decreased cord diameter. Nerve conduction velocities showed impairment in the tibial and peroneal motor fibers. Auditory brain-stem response revealed elongated III-V interval. A cystometrogram disclosed a reflex neurogenic bladder. In the analysis of the fatty acid component of plasma sphingomyelin, the C26/C22, C25/C22, C24/C22 ratios were found to be increased, and the diagnosis of adrenomyeloneuropathy (AMN) was confirmed. The patient's mother was also found to be asymptomatic carrier of AMN on the basis of long chain fatty acid plasma levels. The MRI performed in his age of 29 years, showed marked spinal atrophy from low cervical to low thoracic regions and mild cerebellar atrophy. This findings seems to correspond with chronic progressive demyelination of spinal white matter such as pyramidal tract and fasciculus gracilis.
 ...
PMID:[A case of adrenomyeloneuropathy with marked spinal cord atrophy on magnetic resonance imaging]. 191 36

We reported a 60-year-old man with late-onset adrenomyeloneuropathy (AMN). He had been well until 10 years before entry, when he noticed numbness in the legs with gait difficulty; symptoms worsened gradually with additional urinary disturbance. Transient improvement occurred after cervical and lumbar spinal operation under the diagnosis of spinal spondylosis, while his spastic gait got worse. Neurological examination on admission disclosed bilateral horizontal nystagmus, ataxic and spastic gait, increased patellar tendon reflexes, Chaddock sign, and impaired deep sense in the lower limbs with positive Romberg sign. Abnormal laboratory data included hypofunction of the adrenal cortex and elevated saturated very long chain fatty acids (VLCFAs). Serum cholestanol level was normal and anti-HTLV-1 antibody was negative. T2-weighted MRI showed a high signal intensity lesion in the occipital white matter along the optic radiation. Electrophysiological tests suggested a brainstem lesion on auditory brainstem response, thoracic or lumbar lesion on somatosensory evoked potential, and peripheral neuropathy on nerve conduction study. In the present case, it should be emphasized that the determination of serum VLCFAs unveiled the diagnosis of AMN in old patients with spinal spondylosis or without apparent clinical symptoms of adrenocortical insufficiency.
 ...
PMID:[Late-onset adrenomyeloneuropathy perplexed with spondylosis. A case report]. 875 94