A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report.
J Med Case Rep
; 10(1): 342, 2016 Nov 30.
Article
en En
| MEDLINE
| ID: mdl-27906097
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. CASE PRESENTATION 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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
/
Síndrome de Alagille
/
Hepatopatías
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Med Case Rep
Año:
2016
Tipo del documento:
Article
País de afiliación:
India