原因不明的家族性精神运动发育迟缓:第二型先天性高铁血红蛋白血症。

IF 1.7 Q2 PEDIATRICS Clinical Medicine Insights-Pediatrics Pub Date : 2024-01-31 eCollection Date: 2024-01-01 DOI:10.1177/11795565241229007
Hager Barakizou, Selma Chaieb
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引用次数: 0

摘要

高铁血红蛋白血症是由于血红蛋白中的二价铁被氧化成高铁血红蛋白(MetHb),而高铁血红蛋白无法将氧气输送到组织中。这种疾病可能是通过氧化剂中毒而获得的,也可能是通过 CYB5R3 基因突变而遗传的。CYB5R3 是高铁血红蛋白还原酶或细胞色素 B5 还原酶 3 的编码基因,负责将高铁血红蛋白还原成血红蛋白。我们报告了两姐妹的病例,她们的年龄分别为 15 个月和 8 个月。她们出生于二等近亲结婚家庭,三位亲属均有早产和不明原因死亡史。姐妹俩都有神经系统特征,包括精神运动发育迟缓、小头畸形和轴性肌张力低下。脑磁共振成像显示,两例患儿均出现脑萎缩,其中年幼的患儿胼胝体发育不良。神经系统残疾、发绀和低氧血症的关联促使人们寻找高铁血红蛋白血症,两姐妹的高铁血红蛋白水平分别为 26% 和 15.8%。最初的治疗以亚甲蓝为主,然后是抗坏血酸。基因研究显示,CYB5R3 基因突变为 c.463+8G>C,确诊为 II 型高铁血红蛋白症。高铁血红蛋白血症虽然罕见,但在出现精神运动迟滞伴发绀、亚急性低氧血症时,尤其是有家族史时,应考虑高铁血红蛋白血症的诊断。
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Familial Psychomotor Delay of an Uncommon Cause: Type II Congenital Methemoglobinemia.

Methemoglobinemia is due to oxidization of divalent ferro-iron of hemoglobin to ferri-iron of methemoglobin (MetHb) which is incapable of transferring oxygen to tissues. This disease may be acquired by intoxication with oxidizing agents or inherited with a mutation of CYB5R3, the gene coding for the methemoglobin reductase or cytochrome B5 reductase 3 responsible for the reduction of MetHb to hemoglobin. We report the case of 2 sisters aged respectively of 15 and 8 months. They were born to a second-degree consanguineous marriage with a history of precocious and unexplained deaths in 3 relatives. Both sisters presented neurological features including psychomotor retardation, microcephaly, and axial hypotonia. Cerebral magnetic resonance imaging revealed cerebral atrophy in both cases associated with hypoplasia of the corpus callosum in the younger child. The association of neurological disability, cyanosis, and hypoxemia prompted a search for methemoglobinemia, with MetHB levels respectively of 26% and 15.8%in the 2 sisters. Initial treatment was based on methylene blue, then ascorbic acid. The genetic study revealed a c.463+8G>C mutation of CYB5R3 confirming the diagnosis of methemoglobinemia type II. The diagnosis of methemoglobinemia, although rare, should be considered in the presence of psychomotor retardation with cyanosis and subacute onset hypoxemia, especially in the presence of a family history.

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