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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.
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.
摘要：
背景：Alagille综合征，一种罕见的常染色体显性遗传疾病，表现有五个主要特征：小叶间胆管的缺乏，特征相,后胚毒素,椎体缺损,和周围性肺动脉狭窄。全球范围内,到目前为止只报告了500例，印度次大陆只报告了5例病例.很少,Alagille综合征还表现为皮肤表现和早发性慢性肝病，在我们的案子里找到的.我们相信我们报告了可能是第一例Alagille综合征，表现为咖啡黑斑，因为在文献中找不到此类已发表的病例报告。
方法：我们报告了一例罕见的儿童胆汁淤积性黄疸，并伴有新生儿黄疸。来自印度次大陆的10岁男孩从婴儿期开始出现阻塞性黄疸。他的上肢骨头也有反复骨折,他鼻子间歇性出血,生产性咳嗽,夜视下降，他皮肤上的色素沉着斑点,他的腹部逐渐增大.肝活检标本的组织学检查显示胆管很少，并提示慢性肝病。我们的患者被诊断为Alagille综合征，并保守治疗，但在最终诊断后1年死亡。
结论：迄今为止，印度文献中很少报道这种特殊的胆管疾病缺乏综合征形式。我们的案例值得注意，因为孩子有咖啡斑和慢性肝病的早期发作，这在Alagille综合征中很罕见.我们认为这是关于Alagille综合征的首例病例报告，表现为caféaulait综合征和这种慢性肝病的早期发作。
方法：我们报告了一例罕见的儿童胆汁淤积性黄疸，并伴有新生儿黄疸。来自印度次大陆的10岁男孩从婴儿期开始出现阻塞性黄疸。他的上肢骨头也有反复骨折,他鼻子间歇性出血,生产性咳嗽,夜视下降，他皮肤上的色素沉着斑点,他的腹部逐渐增大.肝活检标本的组织学检查显示胆管很少，并提示慢性肝病。我们的患者被诊断为Alagille综合征，并保守治疗，但在最终诊断后1年死亡。
结论：迄今为止，印度文献中很少报道这种特殊的胆管疾病缺乏综合征形式。我们的案例值得注意，因为孩子有咖啡斑和慢性肝病的早期发作，这在Alagille综合征中很罕见.我们认为这是关于Alagille综合征的首例病例报告，表现为caféaulait综合征和这种慢性肝病的早期发作。
