Neonatal tuberous sclerosis complex in 8 cases

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 symptoms: hypomelanotic 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. Key words: Neonate; Tuberous sclerosis complex; Clinical manifestation