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Abstract：
BACKGROUND: Cases with early diagnosis of neonatal tuberous sclerosis syndrome (TSC) are relatively seldom seen, and misdiagnosis of intracranial hemorrhage is even more rare. We retrospectively analyzed the clinical data of a case of neonatal tuberous sclerosis with atypical early symptoms and misdiagnosed as more common intracranial hemorrhage of the newborn.
METHODS: The child was female and had no obvious cause of convulsion 12 days after birth. The local hospital was initially diagnosed as \"neonatal intracranial hemorrhage, congenital heart disease,\" and still had convulsions after 5 days of treatment, so it was transferred to neonatal intensive care unit of our hospital.
METHODS: After admission, cardiac color ultrasound, magnetic resonance imaging, and electroencephalogram were performed, and TSC was diagnosed in combination with clinical symptoms. However, no known pathogenic mutations such as TSC1 and TSC2 were detected by peripheral blood whole exon sequencing.
METHODS: After a clear diagnosis, sirolimus, and vigabatrin were given. But there were still convulsions. Topiramate, valproic acid, and oxcarbazepine were successively added to the outpatient department for antiepileptic treatment, and vigabatrin gradually decreased.
RESULTS: Up to now, although the seizures have decreased, they have not been completely controlled.
CONCLUSIONS: The TSC of neonatal tuberous sclerosis is different from that of older children. It is usually characterized by respiratory distress and arrhythmia, and may be accompanied by convulsions, but the activity between attacks is normal. However, neonatal intracranial hemorrhage can be caused by premature delivery, birth injury, hypoxia, etc. Its characteristics are acute onset, severe illness, and rapid progression. Consequently, the diagnosis of these 2 diseases should not only be based on medical imaging, but also be combined with their clinical characteristics. When the imaging features are inconsistent with the clinical diagnosis, a comprehensive evaluation should be made again. The timing and pattern of onset of neonatal convulsions can help in differential diagnosis. If there is cardiac rhabdomyoma, subependymal or cortical nodule, skin low melanoma, etc, the possibility of neonatal TSC should be considered, and the diagnosis should be made according to its diagnostic criteria to avoid or reduce misdiagnosis.
METHODS: The child was female and had no obvious cause of convulsion 12 days after birth. The local hospital was initially diagnosed as \"neonatal intracranial hemorrhage, congenital heart disease,\" and still had convulsions after 5 days of treatment, so it was transferred to neonatal intensive care unit of our hospital.
METHODS: After admission, cardiac color ultrasound, magnetic resonance imaging, and electroencephalogram were performed, and TSC was diagnosed in combination with clinical symptoms. However, no known pathogenic mutations such as TSC1 and TSC2 were detected by peripheral blood whole exon sequencing.
METHODS: After a clear diagnosis, sirolimus, and vigabatrin were given. But there were still convulsions. Topiramate, valproic acid, and oxcarbazepine were successively added to the outpatient department for antiepileptic treatment, and vigabatrin gradually decreased.
RESULTS: Up to now, although the seizures have decreased, they have not been completely controlled.
CONCLUSIONS: The TSC of neonatal tuberous sclerosis is different from that of older children. It is usually characterized by respiratory distress and arrhythmia, and may be accompanied by convulsions, but the activity between attacks is normal. However, neonatal intracranial hemorrhage can be caused by premature delivery, birth injury, hypoxia, etc. Its characteristics are acute onset, severe illness, and rapid progression. Consequently, the diagnosis of these 2 diseases should not only be based on medical imaging, but also be combined with their clinical characteristics. When the imaging features are inconsistent with the clinical diagnosis, a comprehensive evaluation should be made again. The timing and pattern of onset of neonatal convulsions can help in differential diagnosis. If there is cardiac rhabdomyoma, subependymal or cortical nodule, skin low melanoma, etc, the possibility of neonatal TSC should be considered, and the diagnosis should be made according to its diagnostic criteria to avoid or reduce misdiagnosis.
摘要：
背景：早期诊断为新生儿结节性硬化症综合征（TSC）的病例相对较少，颅内出血的误诊更为罕见。回顾性分析1例早期症状不典型、误诊为新生儿颅内出血的新生儿结节性硬化症的临床资料。
方法：孩子为女性，出生后12天无明显惊厥原因。当地医院初步诊断为“新生儿颅内出血，先天性心脏病,治疗5天后仍有抽搐，所以它被转移到我们医院的新生儿重症监护室。
方法：入院后，心脏彩色超声,磁共振成像，进行了脑电图检查，并结合临床症状诊断为TSC。然而,外周血全外显子测序未检测到TSC1和TSC2等已知致病突变.
方法：明确诊断后，西罗莫司,并给予了vigabatrin。但是仍然有抽搐。托吡酯,丙戊酸,和奥卡西平相继加入门诊进行抗癫痫治疗，和vigabatrin逐渐减少。
结果：到目前为止，尽管癫痫发作有所减少，他们还没有被完全控制。
结论：新生儿结节性硬化症的TSC不同于年龄较大的儿童。它通常以呼吸窘迫和心律失常为特征，可能伴有抽搐,但是攻击之间的活动是正常的。然而,新生儿颅内出血可由早产引起,出生伤害,缺氧,等。其特点是急性起病,严重的疾病,和快速发展。因此,这两种疾病的诊断不仅应基于医学影像学，还要结合其临床特点。当影像学特征与临床诊断不一致时，应该再次进行全面评估。新生儿惊厥发作的时机和模式有助于鉴别诊断。如果有心脏横纹肌瘤,室管膜下或皮质结节，皮肤低黑色素瘤，etc,应考虑新生儿TSC的可能性，应根据其诊断标准进行诊断，以避免或减少误诊。
方法：孩子为女性，出生后12天无明显惊厥原因。当地医院初步诊断为“新生儿颅内出血，先天性心脏病,治疗5天后仍有抽搐，所以它被转移到我们医院的新生儿重症监护室。
方法：入院后，心脏彩色超声,磁共振成像，进行了脑电图检查，并结合临床症状诊断为TSC。然而,外周血全外显子测序未检测到TSC1和TSC2等已知致病突变.
方法：明确诊断后，西罗莫司,并给予了vigabatrin。但是仍然有抽搐。托吡酯,丙戊酸,和奥卡西平相继加入门诊进行抗癫痫治疗，和vigabatrin逐渐减少。
结果：到目前为止，尽管癫痫发作有所减少，他们还没有被完全控制。
结论：新生儿结节性硬化症的TSC不同于年龄较大的儿童。它通常以呼吸窘迫和心律失常为特征，可能伴有抽搐,但是攻击之间的活动是正常的。然而,新生儿颅内出血可由早产引起,出生伤害,缺氧,等。其特点是急性起病,严重的疾病,和快速发展。因此,这两种疾病的诊断不仅应基于医学影像学，还要结合其临床特点。当影像学特征与临床诊断不一致时，应该再次进行全面评估。新生儿惊厥发作的时机和模式有助于鉴别诊断。如果有心脏横纹肌瘤,室管膜下或皮质结节，皮肤低黑色素瘤，etc,应考虑新生儿TSC的可能性，应根据其诊断标准进行诊断，以避免或减少误诊。
