J Korean Acad Rehabil Med.  2009 Feb;33(1):118-122.

Clinical and Laboratory Features of Children with Mitochondrial Respiratory Chain Enzyme Complexes Defect and Neurological Abnormalities: A case report

• Ahn SJ
• Park ES
• Lee YM
• Kim SH
• Kim DJ
• Rha DW

Abstract

Mitochondrial cytopathies represent a heterogeneous group of multisystem disorder that preferentially affects the muscle and nervous systems. Mitochondrial respiratory chain enzyme complexes (MRC) defect can be the cause of many unexplained neurological disorders including epilepsy, cerebral palsy, delayed development and hypotonia. We retrospectively reviewed clinical and laboratory features of 16 patients who showed defects in MRC activity, confirmed by biochemical assay from spectrophotometry in muscles to characterize clinical and laboratory features for MRC defects and provide more precise diagnosis and effective treatments. In the patients with uncontrolled seizure activity, developmental regression, characteristic features of bilateral symmetric high signal intensity at deep nucleus and/or white matter in T2WI, the mitochondrial cytopathies should be added to the list of differential diagnoses. And lactate elevation in magnetic resonance spectroscopy (MRS) can be useful in the diagnosis of mitochondrial cytopathies.

Keyword

Mitochondrial cytopathy; Mitochondrial respiratory chain enzyme complexes; Magnetic resonance spectroscopy

MeSH Terms

Cerebral Palsy
Child
Diagnosis, Differential
Electron Transport
Epilepsy
Humans
Kearns-Sayre Syndrome
Lactic Acid
Magnetic Resonance Spectroscopy
Mitochondrial Myopathies
Muscle Hypotonia
Muscles
Nervous System
Nervous System Diseases
Retrospective Studies
Seizures
Spectrophotometry
Kearns-Sayre Syndrome
Lactic Acid
Mitochondrial Myopathies