Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Startle-induced epilepsy was observed in a 5-year-old boy with epidermal nevus syndrome. He manifested linear nevus on the face and neck, mild mental retardation, and right hemiparesis. Massive myoclonus, followed by tonic seizures, had been triggered by unexpected auditory stimuli since 3 years of age. The startle-induced seizures were the only epileptic manifestation. Interictal EEG occasionally depicted spontaneous focal spikes and waves in the left frontotemporal area, and ictal EEG depicted vertex spikes and then diffuse slow spike-and-wave complex bursts. Left frontal and perisylvian cortical atrophy and a white matter abnormality in the left frontal area were revealed by magnetic resonance imaging. Single photon emission computed tomography demonstrated diffuse low perfusion in the left cerebral hemisphere. Lower amplitude potentials in the left cerebral cortex were evident during somatosensory evoked potential evaluation. These results indicate that hemispheric dysfunction could cause startle-induced epilepsy in this patient.
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PMID:Startle-induced epilepsy in a patient with epidermal nevus syndrome. 958 33

Phacomatosis pigmentokeratotica is a rare but highly characteristic disease defined by the occurrence of an organoid naevus with sebaceous differentiation, a speckled-lentiginous naevus and other associated anomalies. It is probably caused by the twin-spot phenomenon. We report on a 23-year-old male electrician with 10 irregularly shaped, sharply demarcated, brownish-yellow papillomatous plaques following Blaschko's lines, as well as 6 large, sharply demarcated, round to oval, slightly greyish macules with pewit-egg-like dots, involving both buttocks, the right thigh, the right knee, the right pectoral region and the upper back. A moderate hyperhidrosis of the palms, soles and axillae was noted. All routine blood tests and laboratory findings, including chest X-ray, ECG, abdominal ultrasound, ocular and neural examination were unrevealing. Phacomatosis pigmentokeratotica may be associated with dysaesthesia, segmental hyperhidrosis, mild mental retardation, epileptic seizures, deafness, ptosis, strabismus or muscular weakness. In our patient, only slight hyperhidrosis was present, whereas all other associated anomalies could be excluded.
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PMID:Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. 1201 1