Isolated familial hypomagnesaemia with novel neurological features: causal link or chance concurrence?

A J Larner; C Williamson; N S Ward; J F Acheson; S Robinson; S F Farmer

Isolated familial hypomagnesaemia with novel neurological features: causal link or chance concurrence?

A J Larner, C Williamson, N S Ward, J F Acheson, S Robinson, S F Farmer

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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.

Original language	English
Pages (from-to)	495-9
Number of pages	5
Journal	European Journal of Neurology
Volume	8
Issue number	5
Publication status	Published - Sept 2001

Keywords

Adult
Brain
Calcium
Electromyography
Eye Diseases
Female
Humans
Magnesium
Magnetic Resonance Imaging
Metal Metabolism, Inborn Errors
Mitochondria
Nervous System Diseases
Phenotype
Retinal Degeneration
Seizures

Cite this

@article{0e0c5ad635184fbb8e82b473823d19cd,

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.",

keywords = "Adult, Brain, Calcium, Electromyography, Eye Diseases, Female, Humans, Magnesium, Magnetic Resonance Imaging, Metal Metabolism, Inborn Errors, Mitochondria, Nervous System Diseases, Phenotype, Retinal Degeneration, Seizures",

author = "Larner, {A J} and C Williamson and Ward, {N S} and Acheson, {J F} and S Robinson and Farmer, {S F}",

year = "2001",

month = sep,

language = "English",

volume = "8",

pages = "495--9",

journal = "European Journal of Neurology",

issn = "1351-5101",

publisher = "John Wiley & Sons, Ltd (10.1111)",

number = "5",

}

TY - JOUR

T1 - Isolated familial hypomagnesaemia with novel neurological features

T2 - causal link or chance concurrence?

AU - Larner, A J

AU - Williamson, C

AU - Ward, N S

AU - Acheson, J F

AU - Robinson, S

AU - Farmer, S F

PY - 2001/9

Y1 - 2001/9

N2 - 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.

AB - 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.

KW - Adult

KW - Brain

KW - Calcium

KW - Electromyography

KW - Eye Diseases

KW - Female

KW - Humans

KW - Magnesium

KW - Magnetic Resonance Imaging

KW - Metal Metabolism, Inborn Errors

KW - Mitochondria

KW - Nervous System Diseases

KW - Phenotype

KW - Retinal Degeneration

KW - Seizures

M3 - Article

C2 - 11554916

SN - 1351-5101

VL - 8

SP - 495

EP - 499

JO - European Journal of Neurology

JF - European Journal of Neurology

IS - 5

ER -

Isolated familial hypomagnesaemia with novel neurological features: causal link or chance concurrence?

Abstract

Keywords

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