Tags

Type your tag names separated by a space and hit enter

Mitochondrial dysfunction in a patient with Joubert syndrome.
Neuropediatrics. 2005 Jun; 36(3):214-7.N

Abstract

Joubert syndrome is a genetically heterogeneous disorder. The diagnostic criteria include episodic hyperventilation, abnormal eye movements, psychomotor retardation, hypotonia, ataxia, and the characteristic neuro-imaging findings (molar-tooth sign). Many of these clinical features have been observed in new-borns with mitochondrial disorders as well. Congenital brain malformations, including cerebellar hypoplasia, have been described in pyruvate dehydrogenase deficiency. Malformations of the vermis and the cerebellar peduncles, with the lack of axonal decussations, however, are characteristic for Joubert syndrome but unique in patients with mitochondrial disorders. Here, we describe a child with Joubert syndrome presenting with primary lactic acidemia, decreased pyruvate oxidation rates, decreased ATP production, and a mildly decreased pyruvate dehydrogenase complex activity measured in a fresh muscle biopsy. Sequence analysis of the PDHc E1 alpha gene and the PDHX genes revealed no mutations. The patient received continuous feeding through a feeding tube for two years and showed a significant clinical improvement with a complete resolution of the chronic lactic acidemia. A second muscle biopsy revealed significantly decreased pyruvate oxidation rates and ATP production, but a normal pyruvate dehydrogenase complex activity. We suggest that the described mitochondrial dysfunction in our patient is secondary to an underlying mutation leading to Joubert syndrome.

Authors+Show Affiliations

Nijmegen Center for Mitochondrial Disorders, Radboud University, Nijmegen Medical Center, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15944909

Citation

Morava, E, et al. "Mitochondrial Dysfunction in a Patient With Joubert Syndrome." Neuropediatrics, vol. 36, no. 3, 2005, pp. 214-7.
Morava E, Dinopoulos A, Kroes HY, et al. Mitochondrial dysfunction in a patient with Joubert syndrome. Neuropediatrics. 2005;36(3):214-7.
Morava, E., Dinopoulos, A., Kroes, H. Y., Rodenburg, R. J., van Bokhoven, H., van den Heuvel, L. P., & Smeitink, J. A. (2005). Mitochondrial dysfunction in a patient with Joubert syndrome. Neuropediatrics, 36(3), 214-7.
Morava E, et al. Mitochondrial Dysfunction in a Patient With Joubert Syndrome. Neuropediatrics. 2005;36(3):214-7. PubMed PMID: 15944909.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mitochondrial dysfunction in a patient with Joubert syndrome. AU - Morava,E, AU - Dinopoulos,A, AU - Kroes,H Y, AU - Rodenburg,R J T, AU - van Bokhoven,H, AU - van den Heuvel,L P, AU - Smeitink,J A M, PY - 2005/6/10/pubmed PY - 2005/9/30/medline PY - 2005/6/10/entrez SP - 214 EP - 7 JF - Neuropediatrics JO - Neuropediatrics VL - 36 IS - 3 N2 - Joubert syndrome is a genetically heterogeneous disorder. The diagnostic criteria include episodic hyperventilation, abnormal eye movements, psychomotor retardation, hypotonia, ataxia, and the characteristic neuro-imaging findings (molar-tooth sign). Many of these clinical features have been observed in new-borns with mitochondrial disorders as well. Congenital brain malformations, including cerebellar hypoplasia, have been described in pyruvate dehydrogenase deficiency. Malformations of the vermis and the cerebellar peduncles, with the lack of axonal decussations, however, are characteristic for Joubert syndrome but unique in patients with mitochondrial disorders. Here, we describe a child with Joubert syndrome presenting with primary lactic acidemia, decreased pyruvate oxidation rates, decreased ATP production, and a mildly decreased pyruvate dehydrogenase complex activity measured in a fresh muscle biopsy. Sequence analysis of the PDHc E1 alpha gene and the PDHX genes revealed no mutations. The patient received continuous feeding through a feeding tube for two years and showed a significant clinical improvement with a complete resolution of the chronic lactic acidemia. A second muscle biopsy revealed significantly decreased pyruvate oxidation rates and ATP production, but a normal pyruvate dehydrogenase complex activity. We suggest that the described mitochondrial dysfunction in our patient is secondary to an underlying mutation leading to Joubert syndrome. SN - 0174-304X UR - https://www.unboundmedicine.com/medline/citation/15944909/Mitochondrial_dysfunction_in_a_patient_with_Joubert_syndrome_ L2 - https://www.thieme-connect.com/DOI/DOI?10.1055/s-2005-865610 DB - PRIME DP - Unbound Medicine ER -