Alagille Syndrome

Category: generalpediatrics-Gastroenterology

Findings: newborn jaundice, paucity of bile ducts, pulmonary stenosis, triangular face, Tetralogy of Fallot, hypercholesterolemia, xanthomas, acholic stools

Notes: May also have butterfly vetebrae, hypertelorism, and prominent forehead

Question: What fits these findings?

Annular Pancreas

Category: generalpediatrics-Gastroenterology

Findings: history of polyhydramnios, vomiting in neonate, treated by duodenal bypass

Notes: Pancreas forms ring around intestine.

Question: What fits these findings?

Crohns Disease

Category: generalpediatrics-Gastroenterology

Findings: skip lesions, weight loss, noncaseating granulomas of upper GI tract, erythema nodosum, pyoderma gangrenosum, uveitis, elevated ESR or CRP

Notes: Treat with 5-ASA, steroids, immunosuppressive medications, or metronidazole

Cyclic Vomiting

Category: generalpediatrics-Gastroenterology

Findings: repeat intermittent vomiting spaced with normal periods, history of IBS or migraines

Notes: Treat with prophylactic medication such as for migraines including TCAs, cyprohepatadine, or propanolol

Duodenal Atresia

Category: generalpediatrics-Gastroenterology

Findings: bilious emesis on first day of life, double bubble on x-ray, jaundice

Notes: Increased bilirubin as stool is not passing bile material.

Esophageal Web

Category: generalpediatrics-Gastroenterology

Findings: solid food impaction in esophagus, reflux, chest pain

Notes: Treat with dilation of esophageal web

Gastroschisis

Category: generalpediatrics-Gastroenterology

Findings: abdominal wall defect to the left of the umbilicus, exposed loops of bowel, associated with midgut volvulus-sepsis-NEC-IUGR-bowel atresia

Notes: Pursue immediate surgery. Unlike omphalocele, is not related to congenital or genetic disorders. Gastroschisis is more common seen in younger women and those that smoke or use illicit substances, but can also be caused by aspirin use.

Question: What fits these findings?

Giardiasis

Category: generalpediatrics-Gastroenterology

Findings: several weeks of watery diarrhea, abdominal distension, camping trip, diagnose with pill on a string test and ELISA

Notes: Treat with metronidazole

Question: What fits these findings?

Hirschsprung Disease

Category: generalpediatrics-Gastroenterology

Findings: delayed passage of meconium, absence of stool in rectum, associated with trisomy 21 and cystic fibrosis, narrow segment of bowel next to dilated bowel

Meconium Ileus

Category: generalpediatrics-Gastroenterology

Findings: soap bubble in stool on x-ray, abdominal calcifications, microcolon after splenic flexure, abdominal distension and vomiting after birth

Notes: Consider cystic fibrosis as cause of meconium ileus.

Omphalocele

Category: generalpediatrics-Gastroenterology

Findings: defect in abdominal wall at umbilicus covered by peritoneal membrane, associated with congenital anomalies

Notes: Associated with syndromes such as Beckwith Wiedemann syndrome and trisomies such as 13, 18, and 21

Proteus Syndrome

Category: generalpediatrics-Gastroenterology

Findings: hemihypertrophy, hamartomas, angiomas

Question: What fits these findings?

Ulcerative Colitis

Category: generalpediatrics-Gastroenterology

Findings: continuous lesions in colon and rectum, migratory arthritis, erythema nodosum, pyoderma gangrenosum

VACTERL

Category: generalpediatrics-Gastroenterology

Findings: Vertebral anomalies, Anal atresia (imperforate anus), Cardiac defects, Tracheoesophageal fistula, Radial hypoplasia, Renal anomalies, Limb anomalies

Notes: Children with VACTERL have normal IQ, may have single umbilical artery.

Question: Which syndrome is associated with these findings?

Volvulus

Category: generalpediatrics-Gastroenterology

Findings: bilious emesis, abdominal distension, double bubble on x-ray, bloody stools, corkscrew appearance of duodenum

Notes: Bloody stools are caused by necrosis of bowel

Question: Which disease is associated with these findings?

Wilson Disease

Category: generalpediatrics-Gastroenterology

Findings: hepatomegaly, esophageal varices, tremors, abnormal eye movements, ataxia, Kayser-Fleischer ring, low serum copper, high tissue copper, low serum ceruloplasmin levels

Notes: Diagnose with liver biopsy. Treat with penicillamine.

Question: What fits these findings?

Zollinger Ellison Syndrome

Category: generalpediatrics-Gastroenterology

Findings: high fasting gastrin level, multiple gastrointestinal ulcerations

Notes: Caused by gastrin tumor at pancreas. May be associated with MEN type 1, which causes tumors of pituitary, parathyroid, and pancreas.