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- Title
How early is too early? Diagnosis of tuberous sclerosis complex in a neonate.
- Authors
Prashanth, R; Nair, S; Haribalakrishna, A; Thakkar, H
- Abstract
The article presents a case study of a 50-year-old third gravida mother with previous two normal live births. Examinations were suggestive of multiple cardiac rhabdomyomas diagnosed at 28 weeks of gestation, showed cysts in bilateral kidneys, cortical tubers, radial migration bands, and subependymal nodules. The patient was diagnosed with tuberous sclerosis with a TSC2 mutation, and was considered for preventive treatment with electroencephalographic (EEG) monitoring.
- Subjects
TUBEROUS sclerosis diagnosis; GENETIC mutation; GENETIC testing; GLIOMAS; MUSCLE tumors; EARLY diagnosis
- Publication
Journal of Postgraduate Medicine, 2023, Vol 69, Issue 4, p243
- ISSN
0022-3859
- Publication type
Case Study
- DOI
10.4103/jpgm.jpgm_326_23