Trisomy 21 with imperforate anus / Dhesiree L. Gervacio.

Includes appendices and bibliographical references.

Abstract: This is a case of Baby M.T.L. Delivered term, single, male via normal spontaneous delivery APGAR Score of 9 and 10, Birthweight of 2450 grams, Appropriate for Gestational Age. Diagnose to have Imperforate anus, Neonatal Pneumonia, Trisomy 21. Imperforate anus is accompanied other of congenital anomalies, hence other diagnostic work-ups in order to rule out other medical problems, that could affect its early intervention and long term management is warranted. The term VACTERL work-up is mostly associated. Imperforate anus is a disease that could stand as a separate entity. However there was an interesting category that occurs in most male infants who presents with imperforate anus without fistula and at the same time having Trisomy 21. The type of imperforate anus without fistula and at the same time having Trisomy 21. The type of imperforate anus that occurs in Trisomy 21 is documented to be of low type, and mostly presents without any fistula. Trisomy 21 is one of the most common chromosomal anomaly that exist in human, it is also associated with different medical peoblem and congenital anomaly, but most of the anomaly reported are related to cardiac and tracheoesophageal atresia, or duodenal atresia, few were document to have imperforate anus. Imperforate anus could exist as an independent entity apart from Trisomy 21, on the other hand Trisomy 21 is not coincidental in imperforate with no fistula. Long term management and close follow-up is recommended, to improve quality of life, which focuses on stooling patterns, and continence. The need of surgery as an immediate intervention depends on the type of imperforate anus and patient`s condition.

Research - Department of Child Health