Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: A new syndrome

Clinical Dysmorphology

Volumn 16, Issue 2, 2007, Pages 131-134

  Morava, Eva ^a   Bongers, Ernie M H F ^a   Kress, Wolfram ^b   Sie, Lilian ^a   Rodenburg, Richard ^a   Heuvel, Lambert Van Den ^a   Brunner, Han G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ANAMNESIS; ANTHROPOMETRY; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; ECHOGRAPHY; ENCEPHALOMYOPATHY; ENDOCRINE FUNCTION; HAPLOTYPE; HUMAN; KARYOTYPE; LETTER; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; OPTIC NERVE ATROPHY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; TALL STATURE; WEST SYNDROME;

BODY HEIGHT; CHILD, PRESCHOOL; GENOME, HUMAN; HUMANS; INFANT; KARYOTYPING; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; NUCLEIC ACID HYBRIDIZATION; OPTIC ATROPHY; SYNDROME;

EID: 33947152969     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328014715e     Document Type: Letter

References (12)

1. Agsteribbe E, Huckriede A, Veenhuis M, Ruiters MH, Niezen-Koning KE, Skjeldal OH, et al. (1993). A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60. Biochem Biophys Res Commun 193:146-154.
2. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM (1997). Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120:1713-1721.
3. Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, et al. (2004). Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 351:2080-2086.
4. Cole T (1998). Growing interest in overgrowth. Arch Dis Child 78:200-204.
5. De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, et al. (2004). Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet 41:120-124.
6. Holmes RD, Moore KH, Ofenstein JP, Tsatsos P, Kiechle FL (1993). Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. J Inherited Metab Dis 16:368-380.
7. Hussain K, Thornton PS, Otonkoski T, Aynsley-Green A (2004). Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non-asphyxiated infants. J Pediatr Endocrinol Metab 17:203-209.
8. Janssen AJ, Trijbels FJ, Sengers RC,Wintjes LT, Ruitenbeek W, Smeitink JA, et al. (2006). Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem 52:860-871.
9. Morava E, Hol FA, Janssen A, Smeitink J (2003). Tall stature and progressive overweight in mitochondrial encephalopathy. J Inherited Metab Dis 26:720-722.
10. Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, et al. (2006). Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Am J Med Genet A 140:863-868.
11. Wolf N, Smeitink JAM (2002). Mitochondrial disorders. A proposal for consensus diagostic criteria in infants and children. Neurology 25:207-214.
12. Zeharia A, Fischel-Ghodsian N, Casas K, Bykhocskaya Y, Tamari H, Lev D, et al. (2005). Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol 20:449-452.