Preview

Russian Journal of Child Neurology

Advanced search

Difficulties of diagnostics of epilepsy due to molybdenum cofactor deficiency: a case report

https://doi.org/10.17650/2073-8803-2019-14-2-29-34

Abstract

The article presents a clinical study of an infant with rare inherited metabolism disorder – molybdenum cofactor deficiency, for the first time in Russian literature. The onset of disorder – in early neonatal period with a suppression syndrome and myoclonic seizures combined with a burstsuppression electroencephalographic patterns, followed by a reveal of psychomotor delay. Сraniofacial dystrophies were present, including craniostenosis and microcephaly. Somatic status was characterized by hepatolienomegaly, dysmetabolic changes of kidneys’ parenchyma (suggested by ultrasound) and crystalluria. Neuroimaging data were contradictory. Neurosonography results allowed diagnosing concomitant inborn brain development defect: true porencephalia of large hemispheres. However, brain magnetic resonance imaging revealed a picture of diffuse leukomalacia with pseudocyst formation, which were considered a consequence of perinatal brain damage. Magnetic resonance imaging revealed a picture of diffuse leukomalacia with pseudocyst formation, which were considered a consequence of perinatal brain damage. Differential diagnosis was held between the early infantile epileptic encephalopathy (Ohtahara syndrome) and early myoclonic encephalopathy (Aicardi syndrome). However, etiology of the disease remained unclear. To eliminate inherited metabolic disease accompanied by epilepsy, Inherited Epilepsy Panel DNA sequencing was used. The results showed a homozygotic mutation on the exon 6 of MOCS2 gene, leading to deletion of amino acid in position 158 of the protein, which was described before in patients with molybdenum cofactor deficiency (OMIM: 252160).

About the Authors

A. G. Malov
Perm State Medical University named after E.A. Wagner
Russian Federation

26 Petropavlovskaya St., Perm 614990



Yu. V. Karakulova
Perm State Medical University named after E.A. Wagner
Russian Federation

26 Petropavlovskaya St., Perm 614990



M. Severino
G. Gaslini Children’s Hospital
Italy

5 Gerolamo Gaslini St., Genoa 16147



Yu. I. Kravtsov
Perm State Medical University named after E.A. Wagner
Russian Federation

26 Petropavlovskaya St., Perm 614990



References

1. Edwards М., Roeper J., Allgood С. et al. Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. Meta Gene 2015;3:43–9. DOI: 10.1016/j.mgene.2014.12.003.

2. Higuchi R., Sugimoto T., Tamura A. et al. Early features in neuroimaging of two siblings with molybdenum cofactor deficiency. Pediatrics 2014;133:e267–71. DOI: 10.1542/peds.2013-0935.

3. Hitzert M.M., Bos A.F., Bergman K.A. et al. Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics 2012;130:e1005–10. DOI: 10.1542/peds.2011-3330.

4. Johnson J.L., Duran M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: The Metabolic and Molecular Bases of Inherited Disease. Vol. II. Eds.: Scriver C.R., Beaudet A.L., Sly W.S., Valle D. New York: McGraw-Hill, 2001. Pp. 3163–3177. DOI: 10.1036/ommbid.157.

5. Johnson J.L. Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. Prenatal Diagn 2003;23:6–8. DOI: 10.1002/pd.505.

6. Nagappa M., Bindu P.S., Taly A.B. et al. Child Neurology: Molybdenum cofactor deficiency. Neurology 2015;85(8):е175–8. DOI: 10.1212/WNL.0000000000002194.

7. Topcu M., Coskun T., Haliloglu G. et al. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. J Child Neurol 2001;16(4): 264–70. DOI: 10.1177/088307380101600406.

8. Vijayakumar K., Gunny R., Grunewald S. et al. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency. Pediatr Neurol 2011;45:246–52. DOI: 10.1016/j.pediatrneurol.2011.06.006


Review

For citations:


Malov A.G., Karakulova Yu.V., Severino M., Kravtsov Yu.I. Difficulties of diagnostics of epilepsy due to molybdenum cofactor deficiency: a case report. Russian Journal of Child Neurology. 2019;14(2):29-34. (In Russ.) https://doi.org/10.17650/2073-8803-2019-14-2-29-34

Views: 1401


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2073-8803 (Print)
ISSN 2412-9178 (Online)