"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects.
AffiliationDepartment of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.
MetadataShow full item record
Citation"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects. 2011, 45 (6):403-5 Pediatr. Neurol.
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.
- Mitochondrial diseases mimicking neurotransmitter defects.
- Authors: Garcia-Cazorla A, Duarte S, Serrano M, Nascimento A, Ormazabal A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M, Artuch R
- Issue date: 2008 Jun
- Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
- Authors: Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S
- Issue date: 2003 Jul
- Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.
- Authors: Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C
- Issue date: 1992 Mar
- [Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)].
- Authors: Kornblum C, Kunz WS, Klockgether T, Roggenkämper P, Schröder R
- Issue date: 2004 Dec
- Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions.
- Authors: Marín-García J, Goldenthal MJ, Flores-Sarnat L, Sarnat HB
- Issue date: 2002 Sep