title: Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient.
abstract: Toriello-Carey syndrome is characterized by multiple congenital anomalies. Pancreatic insufficiency is suspected when patients present with poor weight gain, diarrhea, or maldigestion. The diagnosis is confirmed by low stool elastase and pancreatic stimulation testing. To our knowledge, only one patient with Toriello-Carey syndrome has been reported to have pancreatic insufficiency. We report on a second patient with Toriello-Carey syndrome and pancreatic insufficiency, and describe the management of pancreatic insufficiency in patients with this syndrome.
authors.affiliation: Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
authors.forename: Khalil I
authors.initials: KI
authors.lastname: El-Chammas
authors.forename: Narayanan
authors.initials: N
authors.lastname: Venkatasubramani
authors.forename: Regan
authors.initials: R
authors.lastname: Veith
authors.forename: Neha
authors.initials: N
authors.lastname: Sekhri
authors.forename: William
authors.initials: W
authors.lastname: Rhead
authors.forename: Helga V
authors.initials: HV
authors.lastname: Toriello
authors.forename: Praveen S
authors.initials: PS
authors.lastname: Goday
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D002648:Child; D002658:Developmental Disabilities; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis / Q000209:etiology*; D006330:Heart Defects, Congenital; D006801:Humans; D008297:Male; D013577:Syndrome