Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes.
Significance of tuber size for complications of tuberous sclerosis complex
 
  Keywords
 
 
  
   Tuberous sclerosis complex
  
 
 
  
   Tubers
  
 
 
  
   Seizures in tuberous sclerosis complex
  
 
 
  
   Autism in tuberous sclerosis complex
  
 
 
  
   Mental retardation in tuberous sclerosis complex
  
 
 
  
   Magnetic resonance imaging in tuberous sclerosis complex
  
 
Abstract
 Introduction
Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders.
Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, <dis>mental retardation</dis>, and <dis>autistic behaviour</dis>.
Objective
The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC.
Material and methods
We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient.
Results
Four patients had voluminous tubers located in 1 or both cerebral hemispheres.
All of these patients had intractable seizures and <dis>severe mental retardation</dis>; 3 of these cases also presented with <dis>autistic behaviour</dis>, despite tubers having been resected in all 4 patients.
Thirteen patients had tubers of large-to- average size, and all patients in this group showed intractable seizures and <dis>mental retardation</dis>.
Nine patients who had experienced infantile spasms during the first year of life presented <dis>autistic behaviour</dis>.
Multiple tubers of small to average size were found in 28 patients.
In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of <dis>autism</dis>.
In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes.
Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features.
Conclusions
Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, <dis>mental retardation</dis> and <dis>autistic behaviour</dis>), even when the smaller tubers are quite numerous.
Abstract
 Introduction
Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders.
Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, mental retardation, and autistic behaviour.
Objective
The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC.
Material and methods
We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient.
Results
Four patients had voluminous tubers located in 1 or both cerebral hemispheres.
All of these patients had intractable seizures and severe mental retardation; 3 of these cases also presented with autistic behaviour, despite tubers having been resected in all 4 patients.
Thirteen patients had tubers of large-to- average size, and all patients in this group showed intractable seizures and mental retardation.
Nine patients who had experienced infantile spasms during the first year of life presented autistic behaviour.
Multiple tubers of small to average size were found in 28 patients.
In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism.
In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes.
Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features.
Conclusions
Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, mental retardation and autistic behaviour), even when the smaller tubers are quite numerous.
Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of <dis>autism</dis>. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes.
autism
DISABILITY