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a Pediatric Neurology
Unit and Metabolism Clinic, Wolfson Medical Center, Holon, Israel 58100, b Department of Pediatrics C, Schneider
Children's Hospital, Beilinson Campus, Petah Tikva, Israel, c Child Development Center and Pediatric
Neurology Unit, Dana Children's Hospital, Tel-Aviv, Israel, d Department
of Clinical Biochemistry, Hadassah University Hospital, Jerusalem,
Israel
Correspondence to: Dr Lerman-Sagie. email: asagie{at}ccsg.tau.ac.il
Accepted 18 May 1999
The aim of this study was to assess the heterogeneous clinical
presentations of children with mitochondrial disorders evaluated at a
metabolic neurogenetic clinic. The charts of 36 children with highly
suspected mitochondrial disorders were reviewed. Thirty one children
were diagnosed as having a mitochondrial disorder, based on a
suggestive clinical presentation and at least one of the accepted
laboratory criteria; however, in five children with no laboratory
criteria the diagnosis remained probable. All of the patients had
nervous system involvement. Twenty seven patients also had dysfunction
of other systems: sensory organs in 15 patients, cardiovascular system
in five, gastrointestinal system in 20, urinary system in four,
haematopoietic system in four, and endocrine system in nine. The
clinical presentation was compatible with an established syndrome in
only 15 children. Severe lactic acidosis or ragged red muscle fibres
were encountered in very few patients. These results suggest that
mitochondrial disorders should be evaluated in children presenting with
a complex neurological picture or multisystem involvement.
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for example, mitochondrial
encephalopathy, lactic acidosis, and stroke-like episodes (MELAS),
myoclonic epilepsy and ragged red muscle fibres (MERRF), Leber's
hereditary optic neuropathy (LHON), appropriate mitochondrial DNA
studies should be obtained first