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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension
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Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension

机译：钴胺素C缺陷伴孤立性肺动脉高压

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摘要

Cobalamin C (cblC) defect is the most common inborn error of vitamin B-12 metabolism. Clinical features vary as does the severity of the disease. In most cases, the clinical symptoms of cblC defect tend to appear during infancy or early childhood as a multisystem disease with severe neurologic, ocular, hematologic, renal, and gastrointestinal signs. The neurologic findings are common and include hypotonia, developmental delay, microcephaly, seizures hydrocephalus, and brain MRI abnormalities. We report a case of a young boy with cblC defect, who did not undergo newborn screening, presenting at the age of 2 years with isolated pulmonary hypertension as the leading symptom. This novel way of presentation of cblC defect enlarges the spectrum of inherited diseases that must be considered in the differential diagnosis of pulmonary hypertension.
机译：钴胺素C（cblC）缺陷是维生素B-12代谢最常见的先天性错误。临床特征随疾病的严重程度而变化。在大多数情况下，cblC缺陷的临床症状往往在婴儿期或儿童早期出现，是一种多系统疾病，伴有严重的神经，眼，血液，肾脏和胃肠道症状。神经系统检查结果很常见，包括肌张力低下，发育迟缓，小头畸形，脑积水和脑MRI异常。我们报告了一例患有cblC缺陷的男孩，该男孩未接受新生儿筛查，现时仅2岁，以孤立的肺动脉高压为主要症状。这种表达cblC缺陷的新颖方法扩大了在肺动脉高压的鉴别诊断中必须考虑的遗传性疾病的范围。

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