Cortical Malformation Type Determines Deficits in Epilepsy

MADRID — Patients with microcephaly, hemimegalencephaly, tuberous sclerosis, and polymicrogyria have an earlier onset of epilepsy and are more likely to experience comorbid neurologic and cognitive deficits than are patients with other malformations, according to an observational study performed in Austria.

“In comparison, patients with focal cortical dysplasia very rarely had cognitive impairment or neurologic deficits,” Dr. Giorgi Kuchukhidze said at the annual congress of the European Federation of Neurological Societies.

Dr. Kuchukhidze, a neurologist at the Medical University of Innsbruck, Austria, discussed the results of his prospective study of 237 epilepsy patients, all of whom were seen at the university's tertiary epilepsy referral center. All of the patients had a cortical malformation as the root cause of their seizure disorder.

“Certain EEG patterns and clinical pictures create a strong suspicion of malformations of cortical development,” he said. However, the prognosis for such patients is not always grim. “Up to 70% of patients with these malformations can become seizure-free after antiepileptic surgery.”

The most commonly observed malformations in the cohort were focal cortical dysplasia (62; 26%) and polymicrogyria (49; 21%). There were also 30 patients with periventricular nodular heterotopia, 27 with ganglioglioma, 26 with tuberous sclerosis, 14 with microcephaly, 13 with hemimegalencephaly, 8 with dysembryo-plastic neuroepithelial tumor, 6 with subcortical laminar heterotopia, and 2 with lissencephaly/pachygyria.

The mean age of seizure onset was 12 years, but this varied with the type of malformation. “The majority of patients with microcephaly, hemimegalencephaly, and tuberous sclerosis had seizure onset during the first year of life, whereas in most of the patients with focal cortical dysplasia, ganglioglioma, and periventricular heterotopia, the seizures manifested during the second decade of life,” Dr. Kuchukhidze said.

Delayed developmental milestones were seen in 39% of the patients, and various levels of cognitive impairment were present in 43%. “These were apparent in the majority of patients with microcephaly, tuberous sclerosis, hemimegalencephaly, and polymicrogyria,” he said.

Generalized seizures—either West's or Lennox-Gastaut syndrome—were significantly associated with microcephaly, tuberous sclerosis, and diffuse focal lesions. Temporal lobe epilepsy was significantly associated with single focal lesions and focal cortical dysplasia. Medically refractory epilepsy was present in 150 patients (63%). Forty-three patients underwent epilepsy surgery, and 26 of them (60%) have been seizure-free for at least 1 year after the procedure.

MADRID — Patients with microcephaly, hemimegalencephaly, tuberous sclerosis, and polymicrogyria have an earlier onset of epilepsy and are more likely to experience comorbid neurologic and cognitive deficits than are patients with other malformations, according to an observational study performed in Austria.

“In comparison, patients with focal cortical dysplasia very rarely had cognitive impairment or neurologic deficits,” Dr. Giorgi Kuchukhidze said at the annual congress of the European Federation of Neurological Societies.

Dr. Kuchukhidze, a neurologist at the Medical University of Innsbruck, Austria, discussed the results of his prospective study of 237 epilepsy patients, all of whom were seen at the university's tertiary epilepsy referral center. All of the patients had a cortical malformation as the root cause of their seizure disorder.

“Certain EEG patterns and clinical pictures create a strong suspicion of malformations of cortical development,” he said. However, the prognosis for such patients is not always grim. “Up to 70% of patients with these malformations can become seizure-free after antiepileptic surgery.”

The most commonly observed malformations in the cohort were focal cortical dysplasia (62; 26%) and polymicrogyria (49; 21%). There were also 30 patients with periventricular nodular heterotopia, 27 with ganglioglioma, 26 with tuberous sclerosis, 14 with microcephaly, 13 with hemimegalencephaly, 8 with dysembryo-plastic neuroepithelial tumor, 6 with subcortical laminar heterotopia, and 2 with lissencephaly/pachygyria.

The mean age of seizure onset was 12 years, but this varied with the type of malformation. “The majority of patients with microcephaly, hemimegalencephaly, and tuberous sclerosis had seizure onset during the first year of life, whereas in most of the patients with focal cortical dysplasia, ganglioglioma, and periventricular heterotopia, the seizures manifested during the second decade of life,” Dr. Kuchukhidze said.

Delayed developmental milestones were seen in 39% of the patients, and various levels of cognitive impairment were present in 43%. “These were apparent in the majority of patients with microcephaly, tuberous sclerosis, hemimegalencephaly, and polymicrogyria,” he said.

Generalized seizures—either West's or Lennox-Gastaut syndrome—were significantly associated with microcephaly, tuberous sclerosis, and diffuse focal lesions. Temporal lobe epilepsy was significantly associated with single focal lesions and focal cortical dysplasia. Medically refractory epilepsy was present in 150 patients (63%). Forty-three patients underwent epilepsy surgery, and 26 of them (60%) have been seizure-free for at least 1 year after the procedure.

MADRID — Patients with microcephaly, hemimegalencephaly, tuberous sclerosis, and polymicrogyria have an earlier onset of epilepsy and are more likely to experience comorbid neurologic and cognitive deficits than are patients with other malformations, according to an observational study performed in Austria.

“In comparison, patients with focal cortical dysplasia very rarely had cognitive impairment or neurologic deficits,” Dr. Giorgi Kuchukhidze said at the annual congress of the European Federation of Neurological Societies.

Dr. Kuchukhidze, a neurologist at the Medical University of Innsbruck, Austria, discussed the results of his prospective study of 237 epilepsy patients, all of whom were seen at the university's tertiary epilepsy referral center. All of the patients had a cortical malformation as the root cause of their seizure disorder.

“Certain EEG patterns and clinical pictures create a strong suspicion of malformations of cortical development,” he said. However, the prognosis for such patients is not always grim. “Up to 70% of patients with these malformations can become seizure-free after antiepileptic surgery.”

The most commonly observed malformations in the cohort were focal cortical dysplasia (62; 26%) and polymicrogyria (49; 21%). There were also 30 patients with periventricular nodular heterotopia, 27 with ganglioglioma, 26 with tuberous sclerosis, 14 with microcephaly, 13 with hemimegalencephaly, 8 with dysembryo-plastic neuroepithelial tumor, 6 with subcortical laminar heterotopia, and 2 with lissencephaly/pachygyria.

The mean age of seizure onset was 12 years, but this varied with the type of malformation. “The majority of patients with microcephaly, hemimegalencephaly, and tuberous sclerosis had seizure onset during the first year of life, whereas in most of the patients with focal cortical dysplasia, ganglioglioma, and periventricular heterotopia, the seizures manifested during the second decade of life,” Dr. Kuchukhidze said.

Delayed developmental milestones were seen in 39% of the patients, and various levels of cognitive impairment were present in 43%. “These were apparent in the majority of patients with microcephaly, tuberous sclerosis, hemimegalencephaly, and polymicrogyria,” he said.

Generalized seizures—either West's or Lennox-Gastaut syndrome—were significantly associated with microcephaly, tuberous sclerosis, and diffuse focal lesions. Temporal lobe epilepsy was significantly associated with single focal lesions and focal cortical dysplasia. Medically refractory epilepsy was present in 150 patients (63%). Forty-three patients underwent epilepsy surgery, and 26 of them (60%) have been seizure-free for at least 1 year after the procedure.