Early features in neuroimaging of two siblings with molybdenum cofactor deficiency

Pediatrics

Volumn 133, Issue 1, 2014, Pages

  Higuchi, Ryuzo ^a   Sugimoto, Takuya ^a   Tamura, Akira ^a   Kioka, Naomi ^a   Tsuno, Yoshinobu ^a   Higa, Asumi ^a   Yoshikawa, Norishige ^a  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Diffusion weighted image; Magnetic resonance image; Molybdenum cofactor deficiency; Neuroimaging; Ultrasound diagnosis

Indexed keywords

CARBAMAZEPINE; DIAZEPAM; HYPOXANTHINE; MIDAZOLAM; PHENOBARBITAL; SULFITE; URIC ACID; XANTHINE;

APGAR SCORE; ARTICLE; BRAIN ATROPHY; CASE REPORT; CORPUS CALLOSUM AGENESIS; CYANOSIS; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ENZYME DEFICIENCY; EPILEPSY; FETUS DISTRESS; HUMAN; INFANT; MALE; MICROCEPHALY; MISSENSE MUTATION; MOLYBDENUM COFACTOR DEFICIENCY; MSCS1 GENE; MUSCLE SPASM; MUTATOR GENE; MYOCLONUS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; QUADRIPLEGIA; SEIZURE; URINARY EXCRETION;

EID: 84891810474     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2013-0935     Document Type: Article

References (19)

1. Vijayakumar K, Gunny R, Grunewald S, et al. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. Pediatr Neurol. 2011;45(4): 246-252
2. von der Knaap MS, Valk J. Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase: Magnetic Resonance of Myelination and Myelin Disorders. 3rd ed. Heidelberg, Germany: Springer; 2005: 372-376
3. Volpe JJ. Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency: Neurology of the Newborn. 5th ed. Philadelphia, PA: Saunders Elsevier; 2008: 709-710
4. Veldman A, Santamaria-Araujo JA, Sollazzo S, et al. Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics. 2010;125(5). Available at: www.pediatrics.org/cgi/content/full/125/5/e1249
5. Hitzert MM, Bos AF, Bergman KA, et al. Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics. 2012;130(4. Available at: www.pediatrics.org/cgi/content/full/130/4/e1005
6. Topcu M, Coskun T, Haliloglu G, Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. J Child Neurol. 2001;16(4): 264-270
7. Carmi-Nawi N, Malinger G, Mandel H, Ichida K, Lerman-Sagie T, Lev D. Prenatal brain disruption in molybdenum cofactor deficiency. J Child Neurol. 2011;26(4): 460-464
8. Reiss J, Bonin M, Schwegler H, et al. The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab. 2005;85(1): 12-20
9. Poretti A, Blaser SI, Lequin MH, et al. Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging. 2013;37(2): 294-312
10. Veldman A, Hennermann JB, Schwarz G, et al. Timing of cerebral developmental disruption in molybdenum cofactor deficiency. J Child Neurol. 2011;26(8): 1059-1060; author reply 1061
11. Stence NV, Coughlin CR, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2013;43(7): 882-885
12. Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K. Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. J Child Neurol. 2006;21(9): 801-805
13. McKinstry RC, Miller JH, Snyder AZ, et al. A prospective, longitudinal diffusion tensor imaging study of brain injury in newborns. Neurology. 2002;59(6): 824-833
14. Salman MS, Ackerley C, Senger C, Becker L. New insights into the neuropathogenesis of molybdenum cofactor deficiency. Can J Neurol Sci. 2002;29(1): 91-96
15. Rupar CA, Gillett J, Gordon BA, et al. Isolated sulfite oxidase deficiency. Neuropediatrics. 1996;27(6): 299-304
16. Zhang X, Vincent AS, Halliwell B, Wong KP. A mechanism of sulfite neurotoxicity: direct inhibition of glutamate dehydrogenase. J Biol Chem. 2004;279(41): 43035-43045
17. Vermeulen RJ, Fetter WP, Hendrikx L, et al. Diffusion-weighted MRI in severe neonatal hypoxic ischaemia: the white cerebrum. 2003;34(2): 72-76
18. Bayram E, Topcu Y, Karakaya P, et al. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). Eur J Paediatr Neurol. 2013;17(1): 1-6
19. Tan WH, Eichler FS, Hoda S, et al. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005;116(3): 757-766