Tuberous Sclerosis Complex: Diagnostic Challenges, Presenting Symptoms, and Commonly Missed Signs

Abstract

OBJECTIVE: To describe presenting symptoms and signs according to age group in a cohort of 243 patients with tuberous sclerosis complex (TSC) and identify earlier symptoms and signs that did not lead to immediate diagnosis. PATIENTS AND METHODS: We performed a retrospective chart review for 278 patients with TSC who were examined at Children's Hospital Boston in Massachusetts and at the Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital. The presenting symptom or sign was the first symptom or sign to cause suspicion for TSC and lead to diagnosis. Missed symptoms or signs were those that were documented in the patient's chart but did not immediately lead to diagnosis. RESULTS: There were 243 patients for whom there were sufficient data for inclusion in this study. Patients were diagnosed with TSC at ages ranging from birth to 73 years. The average age at diagnosis was 7.5 years. Of the patients, 81% were diagnosed before the age of 10. Diagnosis during adolescence and adulthood was not uncommon. The most common presenting symptoms and signs included new onset of seizures, history of seizures, infantile spasms, family history of TSC, cardiac rhabdomyomas, and hypopigmented macules. Of the patients, 39% reported missed symptoms or signs of TSC, most commonly seizures (including infantile spasms) and dermatologic features. CONCLUSIONS: Many patients had symptoms or signs of TSC that did not lead to immediate diagnosis. Clinicians should be aware of the myriad potential presenting symptoms and signs of TSC. Early diagnosis may reduce morbidity and mortality.

Topographical Distribution of Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex

“…1,2 As a result, tuberous sclerosis complex is believed to affect anywhere from 1 in 5000 to 1 in 10 000 individuals, 3,4 manifesting as a combination of seizures, mental retardation, and facial angiofibromas 5 along with other clinical features. 6,7 Tuberous sclerosis complex most often presents as seizures at the time of diagnosis, 8,9 with the majority of patients refractory to anticonvulsant drugs, making surgical intervention to control seizures a desirable treatment option. [10][11][12][13][14] Surgical intervention to control focal epilepsy in tuberous sclerosis complex patients can be difficult, however, since these patients often have multiple tubers, many of which are nonepileptogenic.…”

Therapeutic Potential of Everolimus on Core Autism Symptoms and Increasing Serum Ceruloplasmin and Transferrin Levels in a Pubescent Boy with Tuberous Sclerosis

“…The MRI revealed that two major diagnostic criteria such as a SEGA and a renal AML, and multiple renal cysts met the diagnostic criteria for TSC [11]. Thus, the diagnosis was confirmed without genomic analysis.…”

Epilepsy Surgery in Patients With Tuberous Sclerosis

“…Эпилептические приступы являются пер-вым симптомом приблизительно в 60 % наблюдений, но во многих случаях диагноз устанавливается не сра-зу, даже при наличии и других клинических проявле-ний заболевания [21,60]. Эпилепсия при ТС часто протекает тяжело, и достаточного контроля эпилеп-тических приступов на фоне медикаментозной тера-пии удается достичь менее чем у половины пациентов [13,18,19].…”