Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this series of one hundred and twenty-eight adults with Down's syndrome nearly half (i.e. 42.2 per cent) developed a normal EEG. This would appear to bear out the findings of Gregoziades and Pampiglione (1966) that older children with this syndrome tended to have tracings similar to the normal child. The youngest age group of fifteen to twenty-four years developed a normal tracing in 38.9 per cent of cases. The most frequent abnormality was an excess of theta, in keeping with the suggestion of Godinova and Hirai and Izawa that this was due to immaturity. Neither the presence of congenital heart disease nor diabetes nor intercurrent illness appeared to have any effect on the development of seizures. Epilepsy developed at any time during adult life but, not surprisingly, the five cases developing it had shown sharp or paroxysmal activity previously. Two had suffered from fainting attacks. In one, the diagnosis was confirmed later by a typical grand mal seizure and the other by response to anticonvulsants. Neither suffered from congenital heart disease.
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PMID:The EEG and incidence of epilepsy in Down's syndrome. 15 92

McLeod syndrome was originally described on the basis of a specific blood group phenotype with weak expression of Kell antigens. This erythrocyte abnormality also causes acanthocytosis. The haematological findings are associated with abnormalities in other organ systems, including neuromuscular manifestations. A 51-year-old patient was followed up for 11 years. He presented with persistent muscle creatine kinase elevation and progressive heart disease and later developed a slowly progressive neuropathy and choreic movements. His younger brother presented with grand mal seizures, involuntary movements and high muscle creatine kinase when aged 43 years. Clinical myopathy was absent in both, yet muscle biopsy showed mild myopathic changes. The presence of a motor axonopathy was supported by electrophysiological findings. One brother also showed sensory axonopathy. The movement disorder suggested accompanying basal ganglia dysfunction. Earlier reports of McLeod syndrome are reviewed with respect to neuromuscular involvement. Absence of the Kx membrane protein seems to be the cause of this multi-system disorder.
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PMID:McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. 151 5

A 34-year-old woman without heart disease had an acute pulmonary edema after a grand mal seizure. Neurogenic pulmonary edema is characterized by the primary role played by the central nervous system in its pathogenesis, usually in the absence of cardiopulmonary disease. We believe that the initiating mechanism was a marked, although brief, generalized vasoconstriction, followed by a shift of blood from the peripheral vascular bed to the pulmonary vascular bed. We stress the need of treating the underlying neurologic disease as the only regional way of preventing the recurrence of pulmonary edema.
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PMID:[Neurogenic pulmonary edema. Description of a case occurring after an epileptic crisis]. 643 96

A case of deletion of the short arm of chromosome 3 (46,XY,del(3)(p253) is described. The patient is a youth of 18 years in an institution for the mentally retarded. Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus, synophrys, low-set ears, frequent infections, epilepsy (abnormal EEG and grand mal seizures), "rocker bottom" feet, flat occiput and muscular hypotonia. The parents are healthy and with normal karyotypes. A silent allele in the GPT system was found in the mother, the propositus and 4 of the 5 siblings.
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PMID:Partial deletion of the short arm of chromosome 3. 722 94

Vitamin D deficiency, once thought to be eradicated, is becoming a frequent occurence in children, caused mainly by dietary insufficiency. The classical manifestation is rickets, but in infants severe hypocalcaemia may present as stridor, tetany, seizures or, rarely, heart disease. Here, we describe four infants who presented with complications of severe hypocalcaemia secondary to nutritional vitamin D deficiency. (1) Female, 4 months old, several spasms. (2) Male, 8 days old, generalised tonic-clonic seizure. (3) Male, 9 months old, tetany. (4) Male, 4 months old, cardiogenic shock. The cases highlight the importance of child vitamin D supplementation from birth and throughout childhood. We also note that the vitamin D state should be evaluated by the 25(OH)-D value and not the 1,25(OH)2-D.
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PMID:Hypovitaminosis D and severe hypocalcaemia: the rebirth of an old disease. 2372 99