Tamirat Moges, Ayalew Beyene
Addis Ababa university, College of Health sciences, Pediatric cardiology unit. Cellphone-251-911405260,
Addis Ababa university , College of Health sciences, Pediatric neurology unit. Cellphone- 0911406533, email:
Ethiop J Health Sci. 2020 Jul 1;30(4):639-642. doi: 10.4314/ejhs.v30i4.19.
Neonatal tuberous sclerosis complex is an autosomal dominant inherited disease characterized by high rate of neurological, cardiac and skin manifestations.
We reported a 4 days old female neonate with respiratory distress, tachypnea, tachycardia and hypomelanotic macular lesions. Her chest X-ray and echocardiographic studies revealed cardiomegaly and multiple echogenic masses in the left and right ventricles, suggestive of cardiac rhabdomyoma. Furthermore, non-contrast brain magnetic resonance imaging revealed sub-ependymal nodules and cortical tubers. Therefore, a clinical diagnosis of neonatal tuberous sclerosis complex with heart failure was made. Then, the patient was initiated on diuretic treatment with oxygen by nasal catheter with subsequent improvement. Seizure was not occurred yet in the last three and half years of follow-up. Currently, the patient is thriving well with no symptoms.
Detection of prenatal or early neonatal age, cardiac rhabdomyoma is a useful clue to the diagnosis of tuberous sclerosis complex in neonates. Proper clinical evaluation of patients at the time of first contact prevents missing of findings such as skin macules and chest X-ray findings, which helped us to diagnose tuberous sclerosis complex in the present case.
新生儿结节性硬化症是一种常染色体显性遗传病，其特征为神经、心脏和皮肤表现的发生率较高。
我们报告了一名4日龄的女婴，有呼吸窘迫、呼吸急促、心动过速和色素减退性斑疹病变。她的胸部X线和超声心动图检查显示心脏扩大，左、右心室内有多个强回声团块，提示心脏横纹肌瘤。此外，非增强脑磁共振成像显示室管膜下结节和皮质结节。因此，做出了新生儿结节性硬化症合并心力衰竭的临床诊断。然后，患者开始接受利尿剂治疗，并通过鼻导管吸氧，随后病情有所改善。在随访的最后三年半中未发生癫痫发作。目前，患者情况良好，无任何症状。
产前或新生儿早期检测到心脏横纹肌瘤是诊断新生儿结节性硬化症的有用线索。首次接触患者时进行适当的临床评估可防止漏诊皮肤斑疹和胸部X线检查结果等，这有助于我们在本病例中诊断结节性硬化症。
