Tinsa Faten, Ben Amor Saadia, Kaabachi Naziha, Ben Lasouad Mehdi, Boussetta Khadija, Bousnina Souad
Department of Pediatrics B, Children's Hospital of Tunis.
Tunis Med. 2009 Feb;87(2):159-63.
Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and neurosensoriel deafness, responding in varying degrees to thiamine treatment.
Report an unusual case of this rare disorder
We report the case of a four-year-old boy who presented unusual features of thiamine-responsive megaloblastic anemia. In addition to the typical triad of the syndrome, he presented leuconeutropenia, hepatosplenomegalia, cardiac abnormalities including absent P waves, mitral and tricuspid insufficiency, retinitis pigmentosa, nystagmus, developmental delay and a brain Magnetic resonance imaging ischemic lesion. Lactate levels in serum and the lactate/pyruvate ratio were increased. The mitochondrial mutation m.3243A > G located in MTTL1 gene encoding for transfer RNA leucine (tRNALeu(UUR)) was not found. Treatment with thiamine resulted in normalisation of the haemoglobin level, white cell count, and glucose and lactate levels. On three years follow up, the patient did not need insulinotherapy.
These data sign the crucial role that thiamine plays for many cells and tissues and its importance in the activity of the respiratory chain.
硫胺素反应性巨幼细胞贫血综合征是一种罕见的常染色体隐性疾病，其特征为巨幼细胞贫血、糖尿病和神经感觉性耳聋，并对硫胺素治疗有不同程度的反应。
报告这一罕见疾病的一例特殊病例。
我们报告了一名4岁男孩，他表现出硫胺素反应性巨幼细胞贫血的不寻常特征。除了该综合征典型的三联征外，他还出现了白细胞减少、肝脾肿大、心脏异常，包括P波消失、二尖瓣和三尖瓣关闭不全、色素性视网膜炎、眼球震颤、发育迟缓以及脑部磁共振成像显示的缺血性病变。血清乳酸水平和乳酸/丙酮酸比值升高。未发现位于编码亮氨酰转运RNA（tRNALeu(UUR)）的MTTL1基因中的线粒体突变m.3243A>G。硫胺素治疗使血红蛋白水平、白细胞计数、血糖和乳酸水平恢复正常。经过三年随访，该患者无需胰岛素治疗。
这些数据表明硫胺素对许多细胞和组织起着关键作用，以及其在呼吸链活性中的重要性。
