Case Report: Long-term nutritional and surgical management of short bowel syndrome in a child with Strømme syndrome

Strømme syndrome is an extremely rare autosomal recessive ciliopathy caused by biallelic mutations in CENPF , characterized by microcephaly, ocular abnormalities, and intestinal atresia; intestinal involvement can evolve into short bowel syndrome (SBS), a recognized but infrequently documented complication. We report the case of an infant with genetically confirmed Strømme syndrome, complicated by severe apple-peel jejunoileal atresia that progressed to SBS. After an initial phase of total dependence on parenteral nutrition (PN) and recurrent catheter-related infectious complications, a coordinated, individually tailored care plan combining personalized nutritional strategies with intensive follow-up allowed a gradual transition to partial oral feeding combined with cyclical home PN. Despite the severity of the condition and the prolonged duration of PN, the child achieved catch-up growth (from an initial nadir to the 50th percentile by the latest follow-up) and preserved liver function. To our knowledge, this is the first detailed report of the long-term nutritional rehabilitation and PN-weaning trajectory in a child with genetically confirmed Strømme syndrome complicated by SBS, showing how well-structured, personalized, and integrated home nutritional management can lead to positive outcomes even in this complex and rare setting.