PDF(Pubmed)
Abstract：
4H leukodystrophy, one of the POLR3-related leukodystrophy, is a rare hereditary brain white matter disease with characteristic clinical presentation and imaging findings. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism is mainly presented in patients with 4H leukodystrophy.
UNASSIGNED: A 4-year-old boy presented in the neurologic clinic with delayed psychomotor development and progressive neurologic symptoms that started from the age of 20 months. Physical examination revealed ataxic features and a global development delay. The MRI was significant for hypomyelination. The most common causes of leukodystrophy were rolled out. He was referred to an inherited metabolic disease specialist under suspect of inborn metabolic errors because of laboratory analysis, which showed elevated levels of lactic acid, pyruvate, 4-Hydroxy-Phenylactic acid, 3-Hydroxy propionic acid, and decreased levels of PCO2, HCO3, total CO2, 25-Hydroxyvitamin D. These results were unspecific and mitochondrial disease was highly suspected. However, the genetic study was requested to get a defined diagnosis and treatment; the whole exon sequencing result showed a homozygous variant of uncertain significance mutation; related to an amino acid change from Ile to Thr at position 1002 in the POLR3B gene, which helped us to reveal the final diagnosis, and the genetic counseling were recommended for the next pregnancies.
UNASSIGNED: POLR3-related Leukodystrophy is a very rare disease. The early diagnosis should be raised depending on clinical history and MRI findings after other conditions were rolled out, and the confirmed diagnosis depends on the genetic study.
UNASSIGNED: A 4-year-old boy presented in the neurologic clinic with delayed psychomotor development and progressive neurologic symptoms that started from the age of 20 months. Physical examination revealed ataxic features and a global development delay. The MRI was significant for hypomyelination. The most common causes of leukodystrophy were rolled out. He was referred to an inherited metabolic disease specialist under suspect of inborn metabolic errors because of laboratory analysis, which showed elevated levels of lactic acid, pyruvate, 4-Hydroxy-Phenylactic acid, 3-Hydroxy propionic acid, and decreased levels of PCO2, HCO3, total CO2, 25-Hydroxyvitamin D. These results were unspecific and mitochondrial disease was highly suspected. However, the genetic study was requested to get a defined diagnosis and treatment; the whole exon sequencing result showed a homozygous variant of uncertain significance mutation; related to an amino acid change from Ile to Thr at position 1002 in the POLR3B gene, which helped us to reveal the final diagnosis, and the genetic counseling were recommended for the next pregnancies.
UNASSIGNED: POLR3-related Leukodystrophy is a very rare disease. The early diagnosis should be raised depending on clinical history and MRI findings after other conditions were rolled out, and the confirmed diagnosis depends on the genetic study.
摘要：
4H脑白质营养不良,与POLR3相关的脑白质营养不良之一，是一种罕见的遗传性脑白质疾病，具有特征性的临床表现和影像学表现。髓鞘不足,缺省症,低促性腺激素性性腺功能减退主要表现在4H脑白质营养不良患者。
■一个4岁的男孩出现在神经诊所，从20个月大开始出现精神运动发育延迟和进行性神经系统症状。体格检查显示共济失调特征和全球发展延迟。MRI对骨髓增生异常有重要意义。脑白质营养不良最常见的原因被推出。由于实验室分析，他因怀疑先天性代谢错误而被转介给遗传性代谢疾病专家，显示乳酸水平升高，丙酮酸,4-羟基-苯基乳酸,3-羟基丙酸,PCO2，HCO3，总CO2，25-羟基维生素D的水平降低。这些结果是非特异性的，高度怀疑线粒体疾病。然而,基因研究需要明确的诊断和治疗；整个外显子测序结果显示为不确定意义突变的纯合变体；与POLR3B基因1002位Ile到Thr的氨基酸变化有关，这帮助我们揭示了最终的诊断，遗传咨询被推荐用于下一次怀孕。
■与POLR3相关的白细胞营养不良是一种非常罕见的疾病。在其他情况下，应根据病史和MRI检查结果提出早期诊断。确诊取决于基因研究.
■一个4岁的男孩出现在神经诊所，从20个月大开始出现精神运动发育延迟和进行性神经系统症状。体格检查显示共济失调特征和全球发展延迟。MRI对骨髓增生异常有重要意义。脑白质营养不良最常见的原因被推出。由于实验室分析，他因怀疑先天性代谢错误而被转介给遗传性代谢疾病专家，显示乳酸水平升高，丙酮酸,4-羟基-苯基乳酸,3-羟基丙酸,PCO2，HCO3，总CO2，25-羟基维生素D的水平降低。这些结果是非特异性的，高度怀疑线粒体疾病。然而,基因研究需要明确的诊断和治疗；整个外显子测序结果显示为不确定意义突变的纯合变体；与POLR3B基因1002位Ile到Thr的氨基酸变化有关，这帮助我们揭示了最终的诊断，遗传咨询被推荐用于下一次怀孕。
■与POLR3相关的白细胞营养不良是一种非常罕见的疾病。在其他情况下，应根据病史和MRI检查结果提出早期诊断。确诊取决于基因研究.
