Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum
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DOI：
10.1007/8904_2015_474
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发表时间：
2016-01-01
期刊：
影响因子：
--
通讯作者：
Eventov-Friedman, Smadar
中科院分区：
文献类型：
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作者：
Banne, Ehud;Meiner, Vardiella;Eventov-Friedman, Smadar
转醛缩酶（TALDO）缺乏具有多种临床表现，包括肝功能障碍、肝脾肿大、贫血、血小板减少和畸形特征。我们报告一个病例提出产前高回声肠和宫内生长受限。婴儿出生时小于胎龄，皮肤松弛，多毛。出生后，发现胎便堵塞，并发肠梗阻，需要开腹手术，部分肠切除和回肠造口术。肝活检显示胆管增生及门脉纤维化。他还患有持续的先天性血小板减少症，需要输血小板，严重的甲状腺功能减退，解剖和结构腺正常，只有T3和T4联合治疗才有反应。神经学上，在2个月时发现严重的张力低下和异色。脑MRI正常。腹部手术后不久，他的肝脏迅速衰竭，最终导致了他的死亡。特定的代谢测试排除了糖基化障碍，但使用1H NMR进行尿液分析显示，先前在转醛缩酶缺乏症患者中发现了sedoheptulose的积累。对编码转醛缩酶（TALDO1）的基因进行测序，发现一个纯合停止突变c.669C >g；p.Tyr223 *。总之，我们提出了一种新的TALDO1纯合突变的婴儿，导致TALDO缺乏，并扩展了这种罕见综合征的临床特征。
Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine growth restriction. The infant was born small for gestational age, with cutis laxa and hypertrichosis. Postnatally, meconium plug was identified, complicated with intestinal obstruction necessitating laparotomy, partial resection of the intestine, and ileostomy. Liver biopsy revealed cholangiolar proliferation and portal fibrosis. He also suffered from persistent congenital thrombocytopenia requiring platelet transfusions and severe hypothyroidism with normal anatomical and structural gland responding only to the combination of T3 and T4 treatment. Neurologically, severe hypotonia and anisocoria were noted at the age of 2 months. Brain MRI was normal. Shortly after the abdominal surgery, a rapid liver failure ensued, which eventually led to his death. Specific metabolic tests ruled out glycosylation disorders, yet urine analysis using 1H NMR showed accumulation of sedoheptulose which was previously described in patients with transaldolase deficiency. Sequencing of the geneencoding transaldolase (TALDO1) revealed a homozygous stop mutation c.669C>G; p.Tyr223*. In conclusion, we present an infant with a novel homozygous mutation in TALDO1, causing TALDO deficiency, and extend the clinical characteristics of this rare syndrome.