Severe isolated sulfide oxidase deficiency with a novel mutation.
Turk J Pediatr
; 63(4): 716-720, 2021.
Article
em En
| MEDLINE
| ID: mdl-34449156
ABSTRACT
BACKGROUND:
Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics hypoxic-ischemic encephalopathy (HIE) in the neonatal period and is characterized by progressive severe neurological impairment due to accumulation of toxic metabolites. CASE This report presents a late diagnosed male patient with ISOD manifesting with neonatal-onset seizures, developmental delay, microcephaly, and spastic quadriplegia. Brain magnetic resonance imaging of the patient showed bilateral subcortical multi-cystic encephalomalacia involving bilateral parieto-occipital regions. A novel homozygous c.590_595delAGCCTC in-frame deletion in SUOX gene was identified in the patient, while both parents were heterozygous for that mutation.CONCLUSION:
The mutation identified in our patient causes severe ISOD. Early diagnosis of ISOD is essential for accurate genetic counseling and achieving prenatal diagnosis. Screening for urinary sulfite in patients with neonatal or early infantile onset seizures, developmental delay, microcephaly and cystic encephalomalacia in neuroimaging mimicking HIE helps in early diagnosis.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sulfito Oxidase
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2021
Tipo de documento:
Article