Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0009952 (febrile convulsions)
 1,215 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a recently described clinicoradiologic syndrome. Clinically, a prolonged febrile seizure is followed by subsequent seizures which occur several days after the initial seizure. On MRI, reduced diffusion appears predominantly in the frontoparietal subcortical white matter at the time of the subsequent seizures. The main symptom between the initial and subsequent seizures is disturbance of consciousness. We report a case with AESD who presented 1) reduced diffusion on MRI which was dominant in the occipital lobe, and 2) reversible visual disturbance followed by higher brain dysfunction such as a cognitive deficit and disturbed speech. A 2-year-old Japanese girl was admitted because of visual disturbance which appeared 4 days after a generalized tonic-clonic seizure associated with fever. Two days later, she had another seizure when MRI revealed reduced diffusion in the subcortical white matter. The MRI finding was not typical of AESD in that reduced diffusion appeared dominantly in the occipital lobe. Normal ophthalmologic findings and abnormal visual evoked potential results suggested that her visual disturbance was due to an impaired visual pathway in the subcortical white matter in the occipital lobe. The present case indicates that there is a subgroup of AESD in which the subcortical lesion seen on MRI is dominant in the occipital lobe.
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PMID:[Acute encephalopathy with biphasic seizures and late reduced diffusion with visual disturbance and higher brain dysfunction]. 2180 Jun 94

We report two cases of bilateral asymmetric optic disc coloboma (ODC) in siblings. The index patient is a 9-year-old Nigerian girl with severe cognitive deficit who presented with a poor vision of 3 years' duration. She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. Ocular examination revealed a very large excavated right optic disc with only a strip of remnant neuro-retinal rim superiorly, and a smaller left optic disc with inferior disc excavation, superior wedge of the pink neuro-retinal rim as well as a temporal optic disc pit. No systemic features of syndromes associated with ODCs and intellectual disability were present in both patients. The younger sibling an 8-year-old girl later presented to the eye clinic with a 5-month history of poor vision in the left eye. Ocular examination revealed visual acuity of 6/6 in the right eye and counting fingers in the left eye. Dilated binocular indirect ophthalmoscopy revealed a right large excavated colobomatous disc and a left small disc with infero-temporal disc coloboma.
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PMID:Optic disc coloboma in two nigerian siblings: Case report and review of literature. 2930 40