Int Med Case Rep J. 2026 Mar 30;19:574230. doi: 10.2147/IMCRJ.S574230. eCollection 2026.
ABSTRACT
INTRODUCTION AND IMPORTANCE: Waardenburg-Shah syndrome (WSS) is a rare congenital disorder characterized by the coexistence of Waardenburg syndrome features and Hirschsprung disease. It results from abnormal neural crest cell migration, leading to variable inheritance patterns and diverse phenotypic presentations.
CASE PRESENTATION: We report a 13-day-old Somali neonate admitted with abdominal distension, bilious vomiting, poor feeding, and fever since birth. Physical examination revealed sharply demarcated hypopigmented patches on the chest and face, bilateral blue irides, and craniofacial dysmorphism. Automated auditory brainstem response (AABR) screening indicated bilateral "refer" outcomes, suggesting sensorineural hearing impairment. Abdominal imaging suggested Hirschsprung disease, and laparotomy revealed long-segment aganglionosis with ganglion cells preserved only in the ileum. Sequential biopsies confirmed absence of ganglion cells in the appendix and sigmoid colon. The patient underwent prophylactic appendectomy, creation of a loop ileostomy, and later definitive repair using the modified extended Duhamel procedure-a pull-through technique that combines a retrorectal pathway with side-to-side anastomosis to bypass the aganglionic segment while preserving continence. She recovered well and was discharged on postoperative day twelve.
CLINICAL DISCUSSION: Diagnosis of WSS relies on recognizing the coexistence of pigmentary abnormalities, auditory impairment, and intestinal aganglionosis. Clinical presentation varies depending on the length of the aganglionic segment, ranging from late-onset constipation in short-segment cases to neonatal intestinal obstruction in long-segment disease. Management requires a multidisciplinary approach, including early hearing evaluation, dermatologic assessment, and surgical correction tailored to disease extent. In low-resource settings without access to genetic testing, clinical evaluation and histopathology remain crucial for accurate diagnosis and treatment planning.
CONCLUSION: This case highlights the diagnostic challenges and multidisciplinary care required for Waardenburg-Shah syndrome in a resource-limited environment. Early recognition of characteristic features, supported by timely surgical intervention and coordinated care, is essential for optimizing outcomes in affected neonates.
PMID:41940241 | PMC:PMC13048072 | DOI:10.2147/IMCRJ.S574230