Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012833 (dizziness)
 9,689 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 30 year-old male patient with a history of Fabry's disease, was referred to hospital with symptoms of dizziness, hypotension and weakness. Fabry's disease had been diagnosed 2 years before, based on angiokeratoma and hypohidrosis on physical examination and complete lack of alpha-galactosidase A on laboratory examination. The ECG on admission demonstrated sinus bradycardia, with a poor response to atropine administration. Echocardiograms on admission and 2 years before were normal, as well as Holter ambulatory ECG recording. Subsequent electrophysiological study demonstrated mild AV conduction disturbances at a site proximal to His, and the patient was simply advised to be regularly followed up. It can therefore be concluded that even young patients with Fabry's disease and normal echocardiograms might develop cardiac symptoms due to AV conduction abnormalities.
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PMID:Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement. 1574 95

Fabry's disease corresponds to an inherited disorder transmitted by an X-linked recessive gene. It generates a dysfunction of glycosphingolipid metabolism due to an enzymatic deficiency of alpha-galactosidase activity, resulting in glycosphingolipid deposits in all areas of the body. The clinical (heart, kidney, and central nervous system) manifestations are more severe in hemizygous boys than in heterozygous girls. They appear during childhood or adolescence: acroparesthesia, joint pain, angiokeratoma, corneal dystrophy, hypohydrosis or anhydrosis, and renal failure. The otoneurologic symptoms consist of hearing fluctuation, progressive unilateral or bilateral hearing loss, and episodes of vertigo or dizziness. Otoneurologic findings in 12 of 26 members of the same family are presented: the mother and 9 of her 12 children, as well as 2 of her 14 grandchildren: 4 healthy persons, 4 heterozygous female carriers, and 4 hemizygous male patients. Three of the male patients had fluctuation of hearing, sudden hearing loss, and episodes of vertigo and dizziness. The otoneurologic examinations showed a bilateral cochleovestibular deficit (n = 1), a right cochleovestibular deficit (n = 1), and a bilateral hearing loss combined with a right vestibular deficit (n = 1). Histopathologic evidence of glycosphingolipid accumulation in vascular endothelial and ganglion cells, as well as atrophy of the stria and spiral ligament, might explain the otoneurologic symptoms and findings.
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PMID:Fabry's disease: otoneurologic findings in twelve members of one family. 1680 71