A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report

Abstract

BackgroundAlagille 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.Case presentationWe 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.ConclusionsThis 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.

Sex differences and risk factors for bleeding in Alagille syndrome

“…Among the bleeding events, the predominantly reported type was intracranial bleeding (25/150, 16.7%) 24,38,39,51,64,65,67,79,[85][86][87][88][89][90][91] , followed by pulmonary hemorrhage (15/150, 10%) 45,92 . Other bleeding events included gastrointestinal (10/150, 6.7%) 9,26,73,74,76,77,[93][94][95][96] , nasal (2/150, 1.3%) 61,73 intrathoracic 97 , intraperitoneal 98 , renal 60 , and ocular 89 bleeding, as well as hematochezia 73 , hematuria 48 and hematemesis 61 (each 1/150, 0.7%) (Figure 1D). Intracranial bleeds included hematoma (generally induced by a head trauma due to thin skull), and hemorrhages (Figure 1E).…”

Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report

“…Cases of NOTCH2-associated ALGS are distinct from JAG1-related ALGS [ 44 ]. Over 500 cases of ALGS have been recorded since its first publication [ 45 ]. There have only been a few instances of NOTCH2 mutations in the literature.…”

Alagille Syndrome and the Liver: Current Insights

“…14 In Indian subcontinent only six cases of ALGS reported so far. 1516 A recent case report from India highlighted the fact that case with ALGS, may have early onset dermatological manifestations and chronic liver disease (CLD), which is an unusual presentation not described in the literature. 16…”