Neuropediatrics 2025; 56(S 01): S1-S24
DOI: 10.1055/s-0045-1812132
Epilepsy

A Case Report of an Infant with De Barsy Syndrome with Intractable Seizures and Severe Gastro-Esophageal Reflux

Authors

  • N. Japaridze

    1   Uksh, Kinder und Jugendmedizin II, Kiel, Germany

  • N. Vogt

    1   Uksh, Kinder und Jugendmedizin II, Kiel, Germany

  • M. Niklaus

    1   Uksh, Kinder und Jugendmedizin II, Kiel, Germany
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Background/Purpose: De Barsy Syndrome (DBS) is an extremely rare autosomal recessive disorder characterized by progeroid features, cutis laxa, ophthalmologic anomalies, and neurological impairments.[1] Fewer than 50 cases have been reported worldwide. The genetic basis often involves mutations in the PYCR1, ALDH18A1, or ATP6V0A2 genes, which are associated with mitochondrial dysfunction and impaired connective tissue formation.[2]

Methods: We report the case of a 3-month-old male infant presenting with generalised hypotonia, severe malnutrition, and growth retardation due to severe gastroesophageal reflux and vomiting, delayed motor development, distinctive facial phenotype including prominent eyes, sparse scalp hair, and a beaked nose, and intractable focal seizures. Brain MRI demonstrated cerebellar lesions. Genetic testing confirmed the diagnosis of De Barsy Syndrome.

Results: The infant received multidisciplinary care, including antireflux Therapy, nutritional support, Antiseizure medications, physiotherapy, and regular neurologic monitoring. Due to a severe and intractable vomiting patient received a Percutaneous endoscopic jejunostomy to ensure the feeding. Management aimed to optimize developmental outcome and prevent complications such as respiratory infections, severe malnutrition due to intractable vomiting, and seizures.

Conclusion: De Barsy Syndrome should be considered in infants presenting with cutis laxa and progeroid appearance, particularly when accompanied by ocular and neurologic abnormalities. There are very few cases described in the literature with such prominent neurological problems and intractable seizures. Early diagnosis through clinical evaluation and genetic testing is essential to provide appropriate care and genetic counselling for affected families.



Publication History

Article published online:
26 September 2025

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