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[Partial seizures in a newborn with tuberous sclerosis]
M P Falero Gallego1, A Verdú Pérez, Y López Lozano
1Sección de Neonatología, Servicio de Pediatría, Hospital Virgen de la Salud, Toledo.
Anales Espanoles De Pediatria
|September 27, 2000
Summary
Tuberous sclerosis, a genetic disorder, can be diagnosed in newborns presenting with seizures and cardiac rhabdomyomas. This case highlights the rare early onset of tuberous sclerosis complex (TSC) symptoms in a neonate.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Neurology
- Medical Case Reports
Background:
- Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by hamartomatous growths in multiple organs.
- Common clinical manifestations include hypopigmented skin lesions, facial angiofibromas, and neurological complications like seizures and intellectual disability.
- Neonatal diagnosis of TSC is exceptionally rare, with typical presentations occurring later in infancy or childhood.
Observation:
- A term newborn female presented with partial motor seizures on the third day of life.
- Initial physical examination revealed only a cardiac rhythm disturbance; echocardiography identified ventricular intramural rhabdomyomas.
- Further investigations including MRI showed characteristic TSC lesions (subependymal nodules, cortical tubers), and a retinal hamartoma was detected.
Findings:
- The patient developed infantile spasms and poorly controlled partial complex seizures, alongside severe psychomotor retardation by one month of age.
- Hypomelanotic macules became evident on the skin at one month of age.
- Both parents exhibited normal examinations, suggesting a spontaneous mutation as the cause in this case.
Implications:
- This case underscores the possibility of diagnosing tuberous sclerosis complex (TSC) in the neonatal period, challenging the notion of its rarity.
- The early onset of seizures in the neonatal period, as observed in this patient, represents an exceptional and rarely reported presentation of TSC.
- Early recognition and diagnosis of TSC in neonates are crucial for timely intervention and management of associated complications, despite diagnostic challenges.