title: A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report.
abstract: BACKGROUND
  Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case. We believe that we report what could be the first case of Alagille syndrome presenting with café au lait spots, as no such published case report could be found in the literature.
  
  
  METHODS
  We report an unusual case of childhood cholestatic jaundice with neonatal onset of jaundice. A 10-year-old boy from the Indian subcontinent presented with obstructive jaundice from early infancy. He also had recurrent fractures of his upper limb bones, intermittent bleeding from his nose, productive cough, decreased night vision, hyperpigmented spots over his skin, and progressive enlargement of his abdomen. Histological examination of a liver biopsy specimen revealed a paucity of bile ducts and changes suggestive of chronic liver disease. Our patient was diagnosed with Alagille syndrome and managed conservatively but died 1 year after the final diagnosis.
  
  
  CONCLUSIONS
  This particular syndromic form of paucity of bile duct disorder has been rarely reported in the Indian literature so far. Our case is notable because the child had café au lait spots and very early onset of chronic liver disease, which is quite rare in Alagille syndrome. We believe this to be the first case report on Alagille syndrome manifesting with café au lait syndrome and such early onset of chronic liver disease.
authors.affiliation: Department of Gastroenterology, S.C.B. Medical College, Cuttack, Odisha, India.
authors.forename: Girish Kumar
authors.initials: GK
authors.lastname: Pati
authors.affiliation: Department of Gastroenterology, IMS and Sum Hospital, Bhubaneswar, Odisha, India.
authors.forename: Ayaskanta
authors.initials: A
authors.lastname: Singh
authors.affiliation: Department of Gastroenterology, S.C.B. Medical College, Cuttack, Odisha, India.
authors.forename: Preetam
authors.initials: P
authors.lastname: Nath
authors.affiliation: Department of Gastroenterology, S.C.B. Medical College, Cuttack, Odisha, India.
authors.forename: Jimmy
authors.initials: J
authors.lastname: Narayan
authors.affiliation: Department of Gastroenterology, S.C.B. Medical College, Cuttack, Odisha, India.
authors.forename: Pradeep Kumar
authors.initials: PK
authors.lastname: Padhi
authors.affiliation: Department of Gastroenterology, S.C.B. Medical College, Cuttack, Odisha, India.
authors.forename: Prasanta Kumar
authors.initials: PK
authors.lastname: Parida
authors.affiliation: Department of Pathology, S.C.B. Medical College, Cuttack, Odisha, India.
authors.forename: Kaumudee
authors.initials: K
authors.lastname: Pattnaik
authors.affiliation: Department of Gastroenterology, S.C.B. Medical College, Cuttack, Odisha, India.
authors.forename: Chittaranjan
authors.initials: C
authors.lastname: Panda
authors.affiliation: Department of Gastroenterology, S.C.B. Medical College, Cuttack, Odisha, India. scb_gastro_dept@hotmail.com.
authors.forename: Shivaram Prasad
authors.initials: SP
authors.lastname: Singh
mesh_terms: D016738:Alagille Syndrome / Q000150:complications* / Q000175:diagnosis*; D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities; D002648:Child; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D007194:India; D008107:Liver Diseases / Q000150:complications* / Q000175:diagnosis*; D008297:Male; D012871:Skin Diseases / Q000150:complications* / Q000175:diagnosis*
keywords: Alagille syndrome; Bile duct paucity; Butterfly vertebra; Café au lait spots; Posterior embryotoxon