Background: The association between Hirschsprung's disease (HSCR) and central nervous system (CNS) anomalies and syndromes is interesting because of similar developmental pathways. In addition to associated syndromes (e.g., Trisomy 21), these include brain anomalies, mental retardation and growth, ear and hearing deformities, eye hypoplasia, and craniofacial abnormalities, suggesting an neurocristopathy. This group of patients present with neurological challenges and have special challenges in management especially in the older child and adolescent.
Methods: We retrospectively investigated 32 patients with significant HSCR-associated neurological challenges out of a local database of 555 HSCRs (6%). Data were analyzed with details of neurological problem, treatment, complications, and mortality. Long-term outcome was assessed clinically.
Results: A total of 32 neurologically challenged children were studied. The male/female ratio was 1.7:1 and all ethnic groups were affected. Abnormalities and syndromes included Down (n = 16) and probable Mowat-Wilson (n = 2) syndromes. Other abnormalities included ophthalmic problems (n = 8), CNS and brain abnormalities (n = 8). Mortality (22%) was mostly related to enterocolitis, particularly in Trisomy 21, ophthalmic problems (n = 8), CNS and brain abnormalities (n = 8). Follow-up age range was 1-34 years (8 years, adolescence and beyond). The outcome was variable, concomitant medical problems were common. Several patients failed to achieve satisfactory continence.
Conclusion: The association of neurological difficulties in patients with HSCR presents many challenges. Management could involve the exploration and evaluation of alternative treatment choices.