Intestinal hypoganglionosis is a rare innervation disorder that provides numerous nutritional, medical and surgical challenges. In this case report, we present a case of a newborn with intestinal hypoganglionosis leading to intestinal failure and intestinal failure-associated liver disease who responded to Omegaven™, a fat emulsion comprised of omega-3 fatty acids. Omegaven™ has been shown to be beneficial in the management of cholestatic liver injury. Clinical success with Omegaven™ was seen in this patient with a clear decrease in aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase and complete resolution of cholestasis with a direct bilirubin of zero within two weeks of initiation of Omegaven™. No current guidelines for the diagnosis and management of hypoganglionosis are available. We recommend a multidisciplinary approach and the use of novel therapies such as fat emulsions composed of omega-3 fatty acids for improved patient outcomes. Appropriate compassionate use protocols should be obtained from the Food and Drug Administration prior to initiation of Omegaven™.
Alanine Transaminase ; Alkaline Phosphatase ; Aspartate Aminotransferases ; Bilirubin ; Cholestasis ; Compassionate Use Trials* ; Diagnosis ; Empathy* ; Emulsions ; Fatty Acids, Omega-3 ; Hirschsprung Disease ; Humans ; Infant, Newborn ; Liver ; Liver Diseases ; Parenteral Nutrition, Total ; United States Food and Drug Administration

Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.
Alagille Syndrome ; Bile ; Bile Canaliculi ; Cholelithiasis ; Cholestasis* ; Diagnosis ; Diagnosis, Differential ; Hepatitis ; Hepatolenticular Degeneration ; Humans ; Jaundice ; Pruritus

Androgen therapy has proven efficacy in treating patients with bone marrow failure who are not candidates for bone marrow transplantation. Herein, we report on a case of colonic angioectasia secondary to oxymetholone use in an adolescent patient with Hoyeraal-Hreidarsson syndrome (HHS). A 13-year-old Caucasian male with HHS characterized by cerebellar hypoplasia, developmental delay, microcephaly, esophageal strictures and myelodysplasia presented with severe hematochezia from colonic angioectasia secondary to long-term oxymetholone therapy. These vascular lesions resolved spontaneously once this anabolic steroid was discontinued. While androgen therapy is often recommended for certain anemias and myelodysplastic syndromes, clinicians should be aware of the potential complication in developing these perceived uncommon colonic angioectasias. Moreover, pediatric gastroenterologists should familiarize themselves in identifying these vascular lesions by colonoscopy, especially among the high risk groups on long-term anabolic steroid therapy.
Adolescent ; Anemia ; Bone Marrow ; Bone Marrow Transplantation ; Colon ; Colonoscopy ; Constriction, Pathologic ; Gastrointestinal Hemorrhage ; Humans ; Male ; Microcephaly ; Myelodysplastic Syndromes ; Oxymetholone ; Testosterone Congeners

Congenital antral webs are a rare but relevant cause of gastric outlet obstruction in infants and children. The condition may lead to feeding refusal, vomiting, and poor growth. Due to the relative rarity of the disease, cases of congenital antral web are frequently misdiagnosed or diagnosed with significant delay as physicians favorably pursue diagnoses of pyloric stenosis and gastric ulcer disease, which are more prevalent. We report a case of an eight-month-old female who presented with persistent non-bilious emesis, feeding difficulties, and failure to thrive and was discovered to have an antral web. The web was successfully treated with endoscopic balloon dilation, which resolved her symptoms. Two years later, the patient remains asymptomatic and is thriving with weight at the 75th percentile for her age.
Child ; Diagnosis ; Endoscopy ; Failure to Thrive ; Female ; Gastric Outlet Obstruction ; Humans ; Infant ; Pediatrics ; Pyloric Stenosis ; Stomach Ulcer ; Vomiting