title: Isolated familial hypomagnesaemia with novel neurological features: causal link or chance concurrence?
abstract: We report a patient with isolated familial hypomagnesaemia with hypocalciuria, a rare congenital disorder of magnesium metabolism. During adolescence the patient developed neurological and ophthalmological features not hitherto reported in this condition, including seizures, myoclonus, and retinal pigmentary degeneration. These suggested the phenotype of mitochondrial disease, which has been occasionally reported in association with hypomagnesaemia, but subsequent investigations of mitochondrial function were normal. The pathogenesis of this unusual neurological and ophthalmological syndrome therefore remains uncertain.
authors.affiliation: St Mary's Hospital, Praed Street, London, UK. larner-a@wcnn-tr.nwest.nhs.uk
authors.forename: A J
authors.initials: AJ
authors.lastname: Larner
authors.forename: C
authors.initials: C
authors.lastname: Williamson
authors.forename: N S
authors.initials: NS
authors.lastname: Ward
authors.forename: J F
authors.initials: JF
authors.lastname: Acheson
authors.forename: S
authors.initials: S
authors.lastname: Robinson
authors.forename: S F
authors.initials: SF
authors.lastname: Farmer
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002118:Calcium / Q000652:urine; D004576:Electromyography; D005128:Eye Diseases / Q000150:complications; D005260:Female; D006801:Humans; D008274:Magnesium / Q000097:blood*; D008279:Magnetic Resonance Imaging; D008664:Metal Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics*; D008928:Mitochondria / Q000473:pathology; D009422:Nervous System Diseases / Q000235:genetics*; D010641:Phenotype; D012162:Retinal Degeneration / Q000150:complications / Q000473:pathology; D012640:Seizures / Q000150:complications
chemical_list: D008274:Magnesium; D002118:Calcium