Case Summary
- Male patient born with several congenital anomalies, including pathologic deletion of 7q36, chordee with left hydrourethronephrosis, low lying conus (L5), cleft palate and low set ears.
- Genetic malformation was identified first and then he was screened for other anomalies.
- Sacral defect was also identified.
Case Summary
- 2-month-old male presents for evaluation. He was born at 37 weeks gestation.
- He was noted to have urine and stool coming out from a penoscrotal hypospadias.
- Prenatally, he was diagnosed with solitary right kidney.
- He also had VSD, hemivertebrae, hydronephrosis of the right kidney with megaureter and agenesis of the left kidney.
Case Summary
- 9-mo-old male presents for evaluation. He was diagnosed with anorectal malformation without fistula and underwent a colostomy at birth.
- Family sent a photo of the colostomy and of the perineum. Purulent secretions were visible and draining from the perineum. The family cleansed the perineum and then took a photo of the anatomy to send to the physician.
Case Summary
- 4-yr-old male patient originally presented for evaluation on day of life 15 due to abdominal distention, vomiting, and suppository dependence.
- On initial presentation, he was admitted to the hospital.
- Abdominal radiographs showed severe bowel dilation.
- 9-yr-old male patient born with trisomy 21, hyperthyroidism, and Hirschsprung disease presents for evaluation.
- He underwent Soave pull-through at 9 mo.
- He was initially evaluated by Gastroenterology for “constipation and overflow pseudo-incontinence” with a plan to administer rectal Botox.
- Colorectal Surgery was invited to examine the patient while in the operating room.
- 1-month-old male patient presents for evaluation.
- Mother was 17 yr old when patient was born.
- On second day of life, he passed meconium, but had recurrent abdominal distension. He was breastfed.
- He was referred for evaluation because of abdominal distension.
- Male patient presents for evaluation.
- Born in 2016 and diagnosed with Hirschsprung disease and underwent enterostomy (unclear if ileostomy or colostomy) performed after birth.
- Ten-year-old male presents to the ED with severe left sided abdominal pain and discharge from the anus.
- He is febrile and tachycardic. He is admitted and ultimately diagnosed with Shigella colitis with overflow diarrhea into the efferent limb of his loop transverse colostomy. Also, he was a Syrian refugee who immigrated to Canada. No prior medical records available.
