"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects.
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Affiliation
Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.Issue Date
2011-12MeSH
Chromosome DeletionDNA, Mitochondrial
Humans
Infant
Male
Muscle Rigidity
Muscle, Skeletal
Neurotransmitter Agents
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"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects. 2011, 45 (6):403-5 Pediatr. Neurol.Journal
Pediatric neurologyDOI
10.1016/j.pediatrneurol.2011.08.009PubMed ID
22115005Abstract
Mitochondrial disorders comprise a heterogenous group. A neonate who presented with episodes of severe truncal hypertonia and apnea progressed to a hypokinetic rigid syndrome characterized by hypokinesia, tremulousness, profound head lag, absent suck and gag reflexes, brisk deep tendon reflexes, ankle and jaw clonus, and evidence of autonomic dysfunction. Analysis of cerebrospinal fluid neurotransmitters from age 7 weeks demonstrated low levels of amine metabolites (homovanillic acid and 5-hydroxyindoleacetic acid), tetrahydrobiopterin, and pyridoxal phosphate. Mitochondrial DNA quantitative studies on muscle homogenate demonstrated a mitochondrial DNA depletion disorder. Respiratory chain enzymology demonstrated decreased complex IV activity. Screening for mitochondrial DNA rearrangement disorders and sequencing relevant mitochondrial genes produced negative results. No clinical or biochemical response to treatment with pyridoxal phosphate, tetrahydrobiopterin, or l-dopa occurred. The clinical course was progressive, and the patient died at age 19 months. Mitochondrial disorders causing secondary neurotransmitter diseases are usually severe, but are rarely reported. This diagnosis should be considered in neonates or infants who present with hypertonia, hypokinesia rigidity, and progressive neurodegeneration.Language
enISSN
1873-5150Ethical Approval
N/Aae974a485f413a2113503eed53cd6c53
10.1016/j.pediatrneurol.2011.08.009
Scopus Count
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