Dados do Trabalho

Título

MOLYBDENUM COFACTOR DEFICIENCY WITH CEREBRAL ATROPHY

Apresentação do caso

Full term newborn, Apgar 9/9, with no family history of neurological diseases, developed breathing and feeding difficulties, reason why was admitted at the hospital on her 7th life day. On examination, presented craniofacial dysmorphic features, anisocoria reactive to light, absence of blink reflex, divergent strabismus with discret skew deviation, hypertonia of limbs and clonic movements, rough skin with diffuse maculopapular lesions, with furfuraceous scaling. The patient was hospitalized and stabilized in the UCI, needing OTI. In the first investigation, the infectious triage and cerebral USG were normal. The MRI of the 9th day of life evidenced cerebral edema, bilateral injury of the thalamus and a high lactate at spectroscopy. The patient progressed with seizures crisis of difficult control, due to that, hypoproteic diet was initiated, with good response. The treatable diseases panel showed absence of variants that isolated would justify the clinical picture. A complete sequencing of the genome revealed variant c.377+1G>A, p.(?) on the intronic region that succeeds the exon 5 of the MOCS2 gene, in homozygous, diagnosing molybdenum cofactor deficiency B. MRI of the 7th month of life revealed plenty of areas with cystic degeneration, important volumetric encephalic reduction and reduction of the N-acetylaspartate peak. Nowadays she’s at home, being treated with Phenobarbital, Levetiracetam, Oxcarbazepine, L-carnitine, Pyridoxine and Clonazepam.

Discussão

The molybdenum cofactor deficiency is an autosomal recessive disease with variable phenotype. Individuals with the early-onset disease usually manifest in the first days of life encephalopathy refractory seizures, opisthotonus, hypotonia, feeding difficulties and apnea. Neuroimaging findings are often loss of white and gray matter differentiation, gyral swelling, edema, sulci injury, diffusely elevated T2-weighted signal and panlobar diffusion restriction. The definitive diagnosis is molecular, with tests that demonstrate biallelic pathogenic variants GPHN, MOCS1, MOCS2 or MOCS3. The serious cases with early-onset are associated with bad prognosis and elevated mortality.

Comentários finais

The molybdenum cofactor deficiency is a rare disease, of poor prognosis, that manifests itself mainly as seizures, and can lead to cerebral atrophy. The diagnosis depends on expensive and difficult-to-access techniques in Brazil, however it allows of prognosys and exclusion of differential diagnosis.

Referências (se houver)

Lin, Y., Liu, Y., Chen, S., Zhu, J., Huang, Y., Lin, Z., & Chen, S. (2021). A neonate with molybdenum cofactor deficiency type B. Translational Pediatrics, 10(4), 1039. https://doi.org/10.21037/TP-20-357
Mendel, R. R. (2013). The molybdenum cofactor. Journal of Biological Chemistry, 288(19), 13165–13172. https://doi.org/10.1074/JBC.R113.455311
Misko, A., Mahtani, K., Abbott, J., Schwarz, G., & Atwal, P. (1993). Molybdenum Cofactor Deficiency. GeneReviews®. https://pubmed.ncbi.nlm.nih.gov/34870926/
Spiegel, R., Schwahn, B. C., Squires, L., & Confer, N. (2022). Molybdenum cofactor deficiency: A natural history. Journal of Inherited Metabolic Disease, 45(3), 456–469. https://doi.org/10.1002/JIMD.12488

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Erros inatos do metabolismo