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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
html.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.


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