Novel imaging finding and novel mutation in an infant with molybdenum cofactor deficiency: a mimicker of hypoxic ischaemic encephalopathy

Sangeetha Yoganathan, Sniya Valsa Sudhakar, Maya Mary Thomas, Atanu Kumar Dutta, Sumita Danda, Mahalakshmi Chandran



Molybdenum cofactor deficiency is a rare metabolic disorder with neonatal onset seizures, developmental delay, microcephaly and spasticity. In this report, we describe a three-month-old infant presented with neonatal onset, poorly controlled seizures, developmental delay, microcephaly, spastic quadriparesis and visual insufficiency. Magnetic resonance imaging of brain had shown cystic encephalomalacia involving bilateral parieto-occipital lobe, and elevated lactate in magnetic resonance spectroscopy.  Restricted diffusion noted along the corticospinal tract in our case is a novel imaging finding in molybdenum cofactor deficiency.  Low serum uric acid and elevated urine sulphite excretion were observed. A novel homozygous mutation was detected in exon 4 of MOCS2 gene.

Early infantile or neonatal onset seizures, developmental delay, microcephaly and cystic encephalomalacia in neuroimaging mimicking hypoxic ischaemic encephalopathy should raise the suspect for molybdenum cofactor deficiency. Screening of all neonates for urinary sulphite metabolites helps in early diagnosis and management. Early diagnosis and treatment with cyclic pyranopterin monophosphate could arrest the progression of this disease. More research is needed to explore further treatment options in this otherwise lethal disorder.


Seizures; encephalomalacia; sulphite; molybdenum cofactor

Full Text:




Duran M, Beemer FA, van de Heiden C, Korteland J, de Bree PK, Brink M, et al. Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? J Inherit Metab Dis. 1978; 1: 175-8.

Veldman A, Santamaria-Araujo JA, Sollazzo S, Pitt J, Gianello R, Yaplito-Lee J, et al. Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics. 2010; 125: e1249-54.

Alkufri F, Harrower T, Rahman Y, Hughes E, Mundy H, Knibb JA, et al. Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome. Mov Disord. 2013; 28: 399-401.

Belaidi AA, Arjune S, Santamaria-Araujo JA, Sass JO, Schwarz G. Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. JIMD Rep.2012; 5: 35-43.

Kutter D, Humbel R. Screening for sulfite oxidase deficiency. Clin Chim Acta.1969; 24: 211-4.

Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, et al. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005; 116: 757-66.

Appignani BA, Kaye EM, Wolpert SM. CT and MR Appearance of the Brain in Two Children with Molybdenum Cofactor Deficiency. AJNR Am J Neuroradiol. 1996; 17: 317-20.

Stence NV, Coughlin CR 2nd, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2013; 43:882-5.

Higuchi R, Sugimoto T, Tamura A, Kioka N, Tsuno Y, Higa A, et al. Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. Pediatrics. 2014; 133:e267-71.

Hitzert MM, Bos AF, Bergman KA, Veldman A, Schwarz G, Santamaria-Araujo JA, et al. Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics. 2012; 130: e1005-10.

Touati G, Rusthoven E, Depondt E, Dorche C, Duran M, Heron B, et al Dietary therapy in two patients with a mild form of sulphite oxidase deficiency: evidence for clinical and biological improvement. J Inherit Metab Dis. 2000; 23: 45-53.

Ngu LH, Afroze B, Chen BC, Affandi O, Zabedah MY. Molybdenum cofactor deficiency in a Malaysian child. Singapore Med J. 2009; 50: e365-7.

Kurlemann G, Debus O, Schuierer G. Dextromethorphan in molybdenum cofactor deficiency. Eur J Pediatr. 1996; 155: 422-23.

Tardy P, Parvy P, Charpentier C, Bonnefont JP, Saudubray JM, Kamoun P. Attempt at therapy in sulphite oxidase deficiency. J Inherit Metab Dis.1989; 12: 94-95.



  • There are currently no refbacks.

Copyright (c) 2017 Iranian Journal of Child Neurology