ArticleThe Journal of international medical research2020
A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome.
Article in The Journal of international medical research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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2 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.
- Bartter Syndrome: A Systematic Review of Case Reports and Case Series.Medicina (Kaunas, Lithuania) · 2023Pooled it
- Acute severe hypernatremia complicated by osmotic demyelination syndrome in a 13-day-old infant.BMC pediatrics · 2025Article
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6 authors at 2 institutions in 1 country.
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Abstract
Bartter syndrome (BS) is a rare autosomal recessive renal tubular disorder characterized by acute electrolyte imbalance, and similarly, osmotic demyelination syndrome (ODS) is a rather rare complication occurring during electrolyte imbalance. The pathological features of ODS include central pontine myelinolysis and extrapontine myelinolysis (EPM), which consist of severe damage to the myelin sheath of neurons. ODS is very rare in children. We describe a case of a 3-month-old infant with ODS and EPM associated with undiagnosed BS. ODS developed because of a sudden change in electrolyte levels and osmolality caused by acute dehydration during a gastrointestinal infection episode. Undiagnosed, untreated, and non-balanced BS was the cause of the neurological complication. Our patient represents the first case of ODS in BS, the ninth case of ODS in an infant less than one year old, and the third case of isolated EPM in such a young patient. This case report reminds us that in rare diseases, young patients tend to have genetic components.
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