Shaikh Sana, Qureshi Asma, Faiq Syed Mohammad
Department of Radiology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
BJR Case Rep. 2018 Nov 7;5(2):20180001. doi: 10.1259/bjrcr.20180001. eCollection 2019 Jun.
Tyrosinemia is a rare metabolic disease showing autosomal recessive inheritance associated with a deficiency of the enzyme fumarylacetoacetate hydrolase. Absence of this enzyme results in the accumulation of succinylacetone in the tissues which predominantly results in liver injury, renal tubular damage, and neurological manifestation resembling porphyrias. The complications that can develop without appropriate treatment include renal tubular dysfunction, growth failure, rickets, neurological crises, hepatomegaly, and possible hepatocellular carcinoma. We describe a case of 18-month-old child who presents with fever and gradually progressive abdominal distension. Laboratory and radiological investigations were done that lead to the diagnosis of this rare entity.
酪氨酸血症是一种罕见的代谢性疾病，呈常染色体隐性遗传，与富马酰乙酰乙酸水解酶缺乏有关。该酶的缺失导致组织中琥珀酰丙酮蓄积，主要引起肝损伤、肾小管损害以及类似卟啉病的神经表现。若未得到适当治疗，可能出现的并发症包括肾小管功能障碍、生长发育迟缓、佝偻病、神经危象、肝肿大以及可能的肝细胞癌。我们描述了一例18个月大的患儿，表现为发热和逐渐加重的腹胀。进行了实验室和影像学检查，从而诊断出这种罕见疾病。
