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.
