Fukazawa Mitsuharu, Tezuka Junichiro, Sasazuki Momoko, Masumoto Natsuko, Baba Haruhisa, Doi Takehiko, Tsutsumi Yasushi, Mizuno Yuji, Mihara Futoshi, Nakayama Hideki
Department of Pediatrics, National Hospital Organization, Fukuoka Higashi Medical Center, Koga-city, Fukuoka, Japan; Department of Pediatrics, National Hospital Organization, Beppu Medical Center, Beppu-city, Oita, Japan.
Department of Pediatrics, National Hospital Organization, Fukuoka Higashi Medical Center, Koga-city, Fukuoka, Japan; Department of Allergy and Pulmonology, Fukuoka Children's Hospital, Fukuoka, Japan.
Brain Dev. 2018 Feb;40(2):140-144. doi: 10.1016/j.braindev.2017.07.015. Epub 2017 Aug 9.
Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures.
A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate). Eleven days later, frequent apneic episodes occurred, and head magnetic resonance imaging (MRI) showed bilateral reticular formation lesions in the brain stem, including the medulla oblongata. After the pyridoxal phosphate dose was increased (to 40mg/kg/day), the patient's seizures and apnea resolved, and her MRI findings also improved. Genetic testing revealed that she was homozygous for the 1559delT mutation of TNSALP.
High-dose pyridoxal phosphate is a useful treatment for HPP-induced seizures and might improve reticular formation lesions.
低磷酸酯酶症（HPP）是一种罕见的遗传性疾病，其特征为佝偻病样骨骼表现和血清碱性磷酸酶（ALP）水平降低。它由组织非特异性碱性磷酸酶（TNSALP）基因突变引起，该基因编码ALP的组织非特异性同工酶。HPP患者根据发病年龄表现出不同症状，如婴儿型HPP合并维生素B6反应性癫痫。
一名患有婴儿型HPP的新生儿自出生后第5天起出现强直性惊厥，并接受静脉注射维生素B6（磷酸吡哆醛10mg/kg/天）。11天后，频繁出现呼吸暂停发作，头部磁共振成像（MRI）显示脑干包括延髓有双侧网状结构病变。在增加磷酸吡哆醛剂量（至40mg/kg/天）后，患者的癫痫发作和呼吸暂停得到缓解，其MRI表现也有所改善。基因检测显示她为TNSALP基因1559delT突变的纯合子。
高剂量磷酸吡哆醛是治疗HPP所致癫痫的有效方法，可能改善网状结构病变。
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