Early Mitochondrial Dysfunction in an Infant With Alexander Disease

Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile form, the most frequent variant, appears between birth and 2 years of age and involves a severe course with a rapid neurologic deterioration. A...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric neurology 2006-10, Vol.35 (4), p.293-296
Main Authors: Cáceres-Marzal, Cristina, Vaquerizo, Julián, Galán, Enrique, Fernández, Santiago
Format: Article
Language:English
Subjects:
Alexander Disease - diagnosis
Alexander Disease - genetics
Biological and medical sciences
Biopsy
Brain - pathology
Cytochrome-c Oxidase Deficiency - diagnosis
Cytochrome-c Oxidase Deficiency - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diagnosis, Differential
Female
Glial Fibrillary Acidic Protein - genetics
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Infant
Lactic Acid - metabolism
Magnetic Resonance Imaging
Medical sciences
Mitochondria, Muscle - pathology
Mitochondrial Myopathies - diagnosis
Mitochondrial Myopathies - genetics
Muscle Hypotonia - diagnosis
Muscle Hypotonia - genetics
Muscle, Skeletal - pathology
Mutation, Missense
Nervous system (semeiology, syndromes)
Neurology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile form, the most frequent variant, appears between birth and 2 years of age and involves a severe course with a rapid neurologic deterioration. Although magnetic resonance imaging is useful for diagnosis, currently diagnosis is confirmed by the finding of missense mutation in the glial fibrillary acidic protein (GFAP) gene. This case reports a female who presented at the age of 5 months with refractory epilepsy and hypotonia. Laboratory examinations, muscle biopsy examination, and energetic metabolic study in muscle indicated increased concentrations of lactate, mitochondria with structural abnormalities, and decreased cytochrome-c oxidase activity respectively. Later, both clinical course and magnetic resonance findings were compatible with Alexander disease, which was confirmed by the finding of a novel glial fibrillary acidic protein gene mutation.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2006.03.010