Neonatal tuberous sclerosis complex in 8 cases / 中华实用儿科临床杂志

ABSTRACT

Objective To investigate the clinical characteristics of neonatal tuberous sclerosis complex (TSC).Methods A total of 134 patients were admitted and diagnosed as TSC in Beijing Children′s Hospital,Capital Medical University from September 2006 to September 2015.The clinical characteristics of TSC in 8 patients who had clinical symptoms initiating from the neonatal period (skin lesion,neurologic abnormality,etc.) were analyzed,so as to conduct the auxiliary examinations (skin biopsy,ultrasonic cardiogram,cranial imaging) and the follow-up results.Results Among 8 patients,4 were diagnosed as TSC in the neonatal period while other 4 were diagnosed at later period from 4 months to 14 years old.Six patients had skin lesions in neonatal period,accounting for 75% of 8 patients,with predominant symptomshypomelanotic macules (5 cases),angiofibroma (2 cases),and shagreen patch (1 case).Cardiac abnormalities in neonatal period mainly included cardiac rhabdomyoma,which were characterized by high incidence,multi-regional occurrence,and wide distribution,noticed in 4 patients (50%).Ultrasonic cardiogram showed a mass in 4 patients with moderate-strong echo,uniform texture and clear boundary,and slight effect on tricuspid valve blood flows (in 1 case).Electrocardiogram abnormalities were found in 1 case,like atrial premature beats with intraventricular aberrant conduction,and accelerated atrial escape.Neurologic abnormality of neonatal TSC could present convulsive seizures.Cranial imaging lesions showed subependymal nodules (3 cases),leukodystrophy (2 cases),and giant-cell astrocytoma (1 case).Evidence for TSC2 gene positive and heterozygous mutation was identified in 1 case.The nucleic acid mutation site was at c.268C>T (E4),and the amino acid mutation was p.90Q>X.The mutant effect was nonsense mutation,which could lead to premature termination of protein translation.Conclusion The clinical characteristics of neonatal TSC may involve multi-system lesions,most commonly seen in the skin,cardiac,and ner-vous system.Neonatal physical examinations,cranial CT/magnetic resonance imaging and cardiac ultrasound screening should be done for the suspected TSC patients,and genetic diagnosis may contribute to the early diagnosis of the disease.