Syndromic and non-syndromic Hirschsprung disease with sensorineural hearing loss: A case series

Neurocristopathies (NCPs) arise from abnormalities in the formation and migration of neural crest cells (NCCs) during fetal development. These lead to clinical manifestations in various body parts where NCCs contribute to development. They include the failure of NCCs to migrate completely into the distal colon, leading to Hirschsprung disease; failure to contribute to inner ear formation, resulting in sensorineural hearing loss; and failure to contribute to pigmentation of various parts, including the iris. These abnormalities can present in combinations found in both syndromic and non-syndromic children. We report on two cases that exhibit different combinations of the clinical manifestations of NCPs. The first is a 2-year-old female delivered at term with delayed passage of meconium but presented at 3 months of life with constipation and abdominal distention. She was managed with rectal washouts, and a rectal biopsy confirmed Hirschsprung disease. She had a trans-endorectal pull-through done at 2 years for a short segment Hirschsprung disease. The mother later reported some developmental delays, which led to the identification of the child's inability to respond to her name or startle to loud noise. An ear assessment revealed bilateral sensorineural hearing loss, believed to be congenital in origin. This was managed with a left-sided cochlear implant, and the child is currently undergoing rehabilitation and has yet to develop her speech. The second is an 18-month-old male believed to be the first reported case of Waardenburg-Shah in Ghana. The child was delivered at term with normal passage of meconium but developed constipation after introduction of family feeds at 6 months and was managed at home by parents with herbal enemas till 16 months of age, when enemas could not relieve constipation. The mother presented the child to the hospital on account of chronic constipation and inability to gain weight. Examination revealed a malnourished child with blue colored iris, abdominal distention, and digital rectal examination of an empty rectum with a gush of feces after removing the finger. Rectal washouts were done, and a rectal biopsy confirmed Hirschsprung disease. A hearing assessment revealed bilateral sensorineural hearing impairment, which was managed with hearing aids. The child is still undergoing nutritional rehabilitation towards definitive surgery. Patients with Hirschsprung disease should undergo early hearing assessment to rule out Hirschsprung-associated sensorineural hearing loss. The combination of Hirschsprung disease and sensorineural hearing loss may or may not be syndromic.