Ann Child Neurol.  2019 Dec;27(4):128-134. 10.26815/acn.2019.00185.

Diagnosis of Tuberous Sclerosis Complex and Epilepsy Outcomes in Children with Fetal Cardiac Rhabdomyoma: A Long Term Follow-up Study

• Kim D
• Kim HJ
• You SJ
• Yum MS
• Ko TS

• KMID: 2470589
• DOI: http://doi.org/10.26815/acn.2019.00185

Abstract

PURPOSE
Prenatal diagnosis of cardiac rhabdomyoma is suggestive of the presence of tuberous sclerosis complex (TSC), which is commonly associated with epilepsy. This study investigated the diagnostic rate of TSC, the incidence and treatment outcomes of epilepsy, and long-term neurodevelopmental outcomes in children with fetal cardiac rhabdomyoma.
METHODS
We retrospectively reviewed the medical records of 50 patients with fetal cardiac rhabdomyoma between 1995 and 2017 at the Asan Medical Center Children's Hospital. Twelve patients were excluded because of incomplete data or a follow-up of less than 1 year. Patients' medical records were assessed for the occurrence of epilepsy during follow-up, including treatment and outcomes, electroencephalography and magnetic resonance imaging, genetic analysis findings, and neurodevelopmental status.
RESULTS
Thirty-eight patients (23 males) were diagnosed with TSC. Twenty-eight (73.7%) developed epilepsy. Infantile spasms were observed in 22 patients (78.6%), and 21 (95.5%) received vigabatrin as the first treatment, achieving subsequent freedom from seizures. At the final evaluation, 17 patients (60%) were seizure-free for over 12 months. Seizure remission was not associated with seizure onset age, the presence of cortical tubers, or TSC1/2 mutations. Patients with epilepsy had a higher prevalence of poor neurodevelopmental outcomes than did those without epilepsy (P=0.008).
CONCLUSION
A high TSC diagnostic rate and a high incidence of early-onset epilepsy were observed in patients with prenatal cardiac rhabdomyoma, and children with TSC and epilepsy showed poor neurodevelopmental outcomes. Therefore, monitoring with electroencephalography follow-up of infants with fetal cardiac rhabdomyoma may be helpful for the early detection and treatment of epilepsy.

Keyword

Tuberous sclerosis; Prenatal diagnosis; Rhabdomyoma; Epilepsy

MeSH Terms

Age of Onset
Child*
Chungcheongnam-do
Diagnosis*
Electroencephalography
Epilepsy*
Follow-Up Studies*
Freedom
Humans
Incidence
Infant
Infant, Newborn
Magnetic Resonance Imaging
Medical Records
Prenatal Diagnosis
Prevalence
Retrospective Studies
Rhabdomyoma*
Seizures
Spasms, Infantile
Tuberous Sclerosis*
Vigabatrin
Vigabatrin