Clinical and imaging observations in isolated sulfite oxidase deficiency

Journal of Child Neurology

Volumn 26, Issue 8, 2011, Pages 1036-1040

  Bindu, Parayil Sankaran ^a   Christopher, Rita ^a   Mahadevan, Anita ^a   Bharath, Rose Dawn ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

cystic leukomalacia; sulfite oxidase; ulegyria

Indexed keywords

ANTICONVULSIVE AGENT; SULFITE OXIDASE;

ANTICONVULSANT THERAPY; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL EXAMINATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; ISOLATED SULFITE OXIDASE DEFICIENCY; LABORATORY TEST; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE;

AMINO ACID METABOLISM, INBORN ERRORS; ATROPHY; CEREBELLUM; CEREBRAL CORTEX; CHILD; EARLY DIAGNOSIS; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; SULFITE OXIDASE; SULFITES;

EID: 79960691564     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811401399     Document Type: Article

References (10)

1. Johnson JL, Duran M The Metabolic and Molecular Basis of Inherited Disease. 8 th ed. Scriver CR Beaudet AL Valle D, ed. New York, NY: McGraw-Hill ; 2001: 3163-3177.
2. 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: 757-766 (Pubitemid 44336697)
3. Basheer SN, Waters PJ, Lam CW, et al. Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy. Neuropediatrics. 2007 ; 38: 38-41 (Pubitemid 47226921)
4. Rosenblum WI. Neuropathologic changes in a case of sulfite oxidase deficiency. Neurology. 1968 ; 18: 1187-1196
5. Brown GK, Scholem RD, Croll HB, et al. Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. Neurology. 1989 ; 39: 252-257 (Pubitemid 19059315)
6. Rupar CA, Gillett J, Gordon BA, et al. Isolated sulfite oxidase deficiency. Neuropediatrics. 1996 ; 27: 299-304 (Pubitemid 27067358)
7. 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: 264-270 (Pubitemid 32452001)
8. Dublin AB, Hald JK, Wootton-Gorges SL. Isolated sulfite oxidase deficiency: MR imaging features. AJNR Am J Neuroradiol. 2002 ; 23: 484-485 (Pubitemid 34241336)
9. Hoffmann C, Ben-Zeev B, Anikster Y, et al. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. J Child Neurol. 2007 ; 22: 1214-1221
10. Connolly DJ, Widjaja E, Griffiths PD. Involvement of the anterior lobe of the cerebellar vermis in perinatal profound hypoxia. AJNR Am J Neuroradiol. 2007 ; 28: 16-19 (Pubitemid 46147526)