"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects.

Hdl Handle:
http://hdl.handle.net/10147/218036
Title:
"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects.
Authors:
Moran, Margaret M; Allen, Nicholas M; Treacy, Eileen P; King, Mary D
Affiliation:
Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.
Citation:
"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects. 2011, 45 (6):403-5 Pediatr. Neurol.
Journal:
Pediatric neurology
Issue Date:
Dec-2011
URI:
http://hdl.handle.net/10147/218036
DOI:
10.1016/j.pediatrneurol.2011.08.009
PubMed ID:
22115005
Abstract:
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:
en
MeSH:
Chromosome Deletion; DNA, Mitochondrial; Humans; Infant; Male; Muscle Rigidity; Muscle, Skeletal; Neurotransmitter Agents
ISSN:
1873-5150
Ethical Approval:
N/A

Full metadata record

DC FieldValue Language
dc.contributor.authorMoran, Margaret M-
dc.contributor.authorAllen, Nicholas M-
dc.contributor.authorTreacy, Eileen P-
dc.contributor.authorKing, Mary D-
dc.date.accessioned2012-04-10T13:09:22Z-
dc.date.available2012-04-10T13:09:22Z-
dc.date.issued2011-12-
dc.identifier.citation"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects. 2011, 45 (6):403-5 Pediatr. Neurol.-
dc.identifier.issn1873-5150-
dc.identifier.pmid22115005-
dc.identifier.doi10.1016/j.pediatrneurol.2011.08.009-
dc.identifier.urihttp://hdl.handle.net/10147/218036-
dc.description.abstractMitochondrial 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.-
dc.language.isoen-
dc.rightsArchived with thanks to Pediatric neurologyen_GB
dc.subject.meshChromosome Deletion-
dc.subject.meshDNA, Mitochondrial-
dc.subject.meshHumans-
dc.subject.meshInfant-
dc.subject.meshMale-
dc.subject.meshMuscle Rigidity-
dc.subject.meshMuscle, Skeletal-
dc.subject.meshNeurotransmitter Agents-
dc.title"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects.en_GB
dc.contributor.departmentDepartment of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.-
dc.identifier.journalPediatric neurology-
dc.type.qualificationlevelN/Aen
cr.approval.ethicalN/Aen
dc.description.provinceLeinsteren
dc.description.provinceLeinster-

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