Advertisement

Molybdenum cofactor deficiency associated with Dandy–Walker complex

      Abstract

      Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral injury is unknown, but sulphite excess, and sulphate or uric acid deficiencies are possible factors. We present here a new case of Molybdenum cofactor deficiency associated with Dandy–Walker complex with a history of three dead siblings, the latter also having Dandy–Walker malformation. We speculate that severe cerebral volume loss due to the above mentioned mechanisms may lead to an appearance resembling Dandy–Walker malformation.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Brain and Development
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Arnold G.L.
        • Greene C.L.
        • Stout J.P.
        • Goodman S.I.
        Molybdenum cofactor deficiency.
        J Pediatr. 1993; 123: 595-598
        • Boles R.G.
        • Ment L.R.
        • Meyn M.S.
        • Horwich A.L.
        • Kratz L.E.
        • Rinaldo P.
        Short-term response to dietary therapy in molybdenum cofactor deficiency.
        Ann Neurol. 1993; 34: 742-744
        • Hughes E.F.
        • Fairbanks L.
        • Simmonds H.A.
        • Robinson R.O.
        Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.
        Dev Med Child Neurol. 1998; 40: 57-61
        • Lyon G.
        • Adams R.D.
        • Kolodny E.H.
        Inherited disorders of amino acid and organic acid metabolism.
        in: Lyon G. Adams R.D. Kolodny E.H. Neurology of hereditary metabolic diseases of children. McGraw-Hill, New York1996: 12-22
        • Reiss J.
        • Christensen E.
        • Dorche C.
        Molybdenum cofactor deficiency: first prenatal genetic analysis.
        Prenat Diagn. 1999; 19: 386-388
        • Shalata A.
        • Mandel H.
        • Dorche C.
        • Zabot M.T.
        • Shalev S.
        • Hugeirat Y.
        • et al.
        Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers.
        Prenat Diagn. 2000; 20: 7-11
        • Schuierer G.
        • Kurlemann G.
        • Bick U.
        • Stephani U.
        Molybdenum-cofactor deficiency: CT and MR findings.
        Neuropediatrics. 1995; 26: 51-54
        • Koch H.
        Dipsticks and convulsions.
        Lancet. 1998; 352: 1824
        • Coşkun T.
        • Yetük M.
        • Yurdakök M.
        • Tekinalp G.
        Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency.
        Acta Paediatr. 1998; 87: 714-715
        • Waring W.S.
        • Maxwell S.
        Diagnosis of molybdenum cofactor deficiency.
        Lancet. 1999; 353: 675-676
        • Simmonds H.A.
        • Hoffmann G.F.
        • Perignon J.L.
        • Micheli V.
        • van Gennip A.H.
        Diagnosis of molybdenum cofactor deficiency.
        Lancet. 1999; 353: 675-676
        • Maxwell S.R.J.
        • Thomason H.
        • Sandler D.
        • Leguen C.
        • Baxter M.A.
        • Thorpe G.H.
        • et al.
        Antioxidant status in patients with uncomplicated insulin-dependent and non-insulin dependent diabetes mellitus.
        Eur J Clin Invest. 1997; 27: 484-490
        • Stover J.F.
        • Lowitzsch K.
        • Kempski O.S.
        Cerebrospinal fluid hypoxanthine, xanthine and uric acid levels may reflect glutamate-mediated excitotoxicity in different neurological diseases.
        Neurosci Lett. 1997; 238: 25-28
        • Appignani B.A.
        • Kaye E.M.
        • Wolpert S.M.
        CT and MR appearance of the brain in two children with molybdenum cofactor deficiency.
        Am J Neuroradiol. 1996; 17: 317-320
        • Pintos-Morell G.
        • Naranjo M.A.
        • Artigas M.
        • Roge M.
        • Rodes M.
        • Coll M.J.
        • et al.
        Molybdenum cofactor deficiency associated with Dandy–Walker malformation.
        J Inherit Metab Dis. 1995; 18: 86-87