Very early Neuroimages of sulfite oxidase deficiency mimicin
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A term female baby, with uncomplicated pregnancy and delivery, showed lethargy and seizures on day 1 of life. Brain MRI on day 2 of life demonstrated diffused cortical swelling. Patient developed uncontrolled multifocal seizures on day 3 of life. In addition, electroencephalogram showed frequent spike and sharp waves in the right side of the rolandic region. Moreover, metabolic investigation including urine sulfite was normal.

The patient underwent genetic testing that showed heterozygous mutation in the SUOX gene leading
to sulfite oxidase deficiency (SOD) aligned to reference sequence NM_000456.2, c.1200C>G (from the mother), and c.1574_1575ins26 (from the father), the latter was a new mutation never reported previously.

Her parents were born in the same village in southern China. Their first child had the similar symptoms on day 3 of life diagnosed as profound hypoxic ischemic encephalopathy (HIE) even with good Apgar score and died several days after birth. This infant was followed up for six months, she was alive but still had seizure and severe developmental delay. SOD is a rare autosomal recessive inherited disease without effective treatment.

Only 54 cases were reported previously, and this is the first early-onset case reported in China, which showed the earliest neuroimages of SOD reported in the literature and provided new mutation. In most patients, sulfite was found in urine. A rapid screening with urine sulfite strip test is essential for quick diagnosis. In neonates with good Apgar score, showing early neuroimages mimicking severe HIE, SOD should be considered.

Prenatal genetic counseling should be suggested for the goal of giving birth to a healthy baby.

Source: https://www.pediatr-neonatol.com/article/S1875-9572(21)00046-2/fulltext?rss=yes
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