Ryan J Reichert, MD, PGY3
Stephanie F Moses, DO PEM Fellow PGY6
6-day-old term Haitian male presented to the Emergency Department (ED) for abdominal distension. Per mother, the patient was born at home and delivery was uncomplicated. History revealed the patient was able to pass stool and urinate in the first day of life. He tolerated frequent breastfeeding until day of life 3 when he developed increased fussiness, feeding intolerance, and constipation without emesis. Abdominal distension developed and increasingly worsened over the next 48 hours. Although there were no prenatal medical visits, mother stated that there were no fevers or known infections during pregnancy.
Upon arrival to the ED, the patient was noted to be in shock with fever, tachycardia, and tachypnea. The patient’s exam was significant for an extensively distended abdomen, as shown below. Exam was also notable for a white hair forelock, broad nasal root, heterochromia, and multiple patches of depigmentation throughout skin exam.
The classic characteristics of Waardenburg Syndrome (WS) were noted in our patient. WS is a clinically and genetically heterogeneous disorder and affects 1 in 42,000-50,000 individuals 1, 2. The defect causes an aberrant distribution of melanocytes during embryogenesis, resulting in patchy areas of piebald depigmentation, as seen in our patient. There are four subtypes of WS described with heterogeneous characteristics including a white forelock, hearing defects, broad nasal bridge and depigmentation of skin and eyes, as seen in our patient. Type IV is the most rare type and clinically presents with above pigmentation and neurosensory findings in addition to Hirschsprung disease3. Our patient’s signs and symptoms of bowel obstruction due to Hirschsprung disease with the other classical findings led us to the diagnosis of Type IV Waardenburg Syndrome.
Due to resource limitations, biopsy and genetic diagnostic confirmation were not completed. There is no cure for WS and treatment is focused on symptomatic management of associated abnormalities.
- Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010;31(4):391-406.
- Read AP, Newton VE. Waardenburg syndrome. J Med Genet. 1997;34(8):656-665.
- Wadhwani M, Gupta YK, Gangwani K. Waardenburg Shah syndrome: A rare case from India. Oman J Ophthalmol. 2015;8(1):74-75.