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

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
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PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

Ocular motor apraxia (OMA) is characterised by an intermittent inability to initiate voluntary saccades, and a failure to produce optokinetic and vestibular quick phases. Some patients have no other abnormalities (idiopathic OMA), whereas in others it appears associated with a variety of neurological conditions which may affect the sensory visual pathway. Electroretinograms (ERGs), flash and pattern visual evoked potentials (VEPs) and eye movements were assessed in 53 children with OMA (age range 17 days to 14 years) to determine their efficacy in helping to distinguish between idiopathic and non-idiopathic cases. Seven patients (13.2%) had idiopathic OMA and the remaining 46 (86.8%) had other associated clinical conditions. All patients had episodes of absent quick phases ('lock up') during optokinetic nystagmus (OKN) and/or vestibular testing. Flash ERGs were abnormal in only 7 patients (13.2%); 6 had syndromes involving a pigmentary retinopathy (Joubert's, Bardet-Biedl, infantile Refsum's, Kearns-Sayre's), and the seventh had a cone dystrophy with vermis hypoplasia. VEPs were normal in all 7 patients with idiopathic OMA. Thirty-three (72%) patients with OMA in association with neurological conditions had abnormal VEPs and 13 had normal VEPs (28%). There was a significant positive correlation between VEP abnormality and poor OKN gain. VEP/ERG testing and eye movement studies are useful when OMA is suspected as they help in distinguishing isolated idiopathic cases from those with more widespread neurological abnormalities.
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PMID:The role of ERG/VEP and eye movement recordings in children with ocular motor apraxia. 876 4