Clinical and imaging observations in isolated sulfite oxidase deficiency
Parayil Sankaran Bindu1, Rita Christopher, Anita Mahadevan
1Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India. drpsbindu@yahoo.co.in
Insights
Isolated sulfite oxidase deficiency is a rare neurometabolic disorder. Early diagnosis through urine sulfite testing and genetic analysis is crucial for management and genetic counseling.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Isolated sulfite oxidase deficiency (ISOD) is a rare neurometabolic disorder.
- ISOD clinically and radiologically mimics hypoxic ischemic encephalopathy.
- This condition requires careful differentiation due to overlapping symptoms.
Observation:
- Two pediatric patients, aged 14 months and 8 years, with ISOD were studied.
- Both presented with severe neonatal-onset neurodevelopmental deficits including profound mental retardation, microcephaly, spastic quadriparesis, and intractable seizures.
- Clinical presentation and brain imaging findings were documented.
Findings:
- Diagnosis was confirmed by detecting elevated urinary sulfites and subsequent genetic analysis.
- Brain MRI revealed progressive severe cystic leukomalacia, ulegyric cortical atrophy, and cerebellar hypoplasia in both patients.
- Imaging findings correlated with the clinical severity and progression of the disease.
Implications:
- Early and accurate diagnosis of ISOD is critical.
- Prompt diagnosis allows for timely genetic counseling and the option of prenatal testing for affected families.
- Understanding the natural history and imaging features aids in differentiating ISOD from other neurometabolic disorders.
Abstract:
Isolated sulfite oxidase deficiency is a rare neurometabolic disorder that closely mimics hypoxic ischemic encephalopathy both clinically and radiologically. Phenotypic and imaging observations in 2 children (aged 14 months and 8 years) with this disease are described. Both had profound mental retardation, microcephaly, spastic quadriparesis, and uncontrolled seizures from the neonatal period. Diagnosis was established by demonstrating the presence of sulfites in urine and genetic analysis. Magnetic resonance imaging of the brain revealed severe cystic leukomalacia, cortical atrophy with ulegyric pattern, and cerebellar hypoplasia that progressed over time in both the patients. Early diagnosis of this devastating disorder will provide an opportunity for genetic counseling and prenatal testing.
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