Subcortical epilepsy?

Epilepsia, 2008

BMJ case reports, 2017

Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic-clonic seizures and myoclonus since 17 years of age. Seizures were noted to be resistant to multiple epileptic drugs. He developed gait imbalance, intentional tremor and dysarthria. Detailed examination revealed hepatosplenomegaly, bilateral pancerebellar signs with normal power, reflexes and sensory system. He had major cognitive impairment with impaired frontal and temporal lobar functions. Bone marrow evaluation revealed Gaucher cells, confirming the diagnosis.

Scottish Medical Journal, 2014

Introduction: Gaucher's disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher's disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic-clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life. Case presentation: We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement. Conclusion: Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.

Arquivos de Neuro-Psiquiatria, 2011

Epilepsy is the most common neurological disorder in humans. People with epilepsy are more likely to die prematurely than those without epilepsy, with the most common epilepsy-related category of death being sudden unexpected death in epilepsy (SUDEP). The central mechanisms underlying the fatal process remain unclear, but cardiac and respiratory mechanisms appear to be involved. Recently, cerebellar, thalamic, basal ganglia and limbic brain structures have been shown to be implicated in respiratory and cardiac rate regulation. We discuss here the potential mechanisms underlying the fatal process, with a description of cerebellar actions likely failing in that SUDEP process.

Archives of Disease in Childhood, 1994

Journal of Neurosurgery: Pediatrics, 2013

Epilepsy, especially with refractory seizures, is thought to arise only from cortical lesions or substrate. The authors report on 2 patients with refractory epilepsy and cerebellar lesions. Depth electrodes were placed within the cerebellar lesions in both patients, and intracranial electroencephalographic recordings showed seizure origin from the cerebellar lesions. One patient eventually attained seizure control with antiepileptic drugs. The other case involved a child with generalized myoclonic epilepsy associated with a pilocytic astrocytoma of the cerebellum. This patient obtained seizure control following gross-total resection of the tumor.

Journal of Neurosurgery, 2002

HERE seems to be no epileptic seizure that results from a lesion of the cerebellar cortex." This statement by Penfield and Erickson 38 exemplifies the classic teaching of Hughlings-Jackson that epileptic seizures arise only in the cerebral cortex. Epileptic seizures are defined as paroxysmal, excessive, and/or hypersynchronous discharges of neurons that may be associated with clinical manifestations and EEG changes. In 1886, Hughlings-Jackson 26 proposed that such activity had its origin in discharging lesions in the cerebral cortex. Over the last 120 years, the understanding of the fundamental role of the cerebrum in epilepsy has evolved, such that modern definitions of epilepsy in humans rely on cerebrocortical origins (that is, temporal compared with extratemporal). Subcortical structures, such as the brainstem and cerebellum, are thought to have only modulatory effects on cerebral epileptiform discharges; 17,19,33 thus, they are presumed to be indirectly involved in epileptic seizures. 6,11 Although subcortical epilepsy has been demonstrated in animal models, 22,23 and may be seen in conjunction with hypothalamic hamartomas, 5,30,37,45 only one case of focal motor seizures arising in the cerebellum has been reported in humans; 24 generalized seizures

Epilepsy & Behavior Case Reports, 2013

Myoclonic status epilepticus (MSE) is defined as prolonged period of myoclonic jerks that are correlated with epileptiform discharges on EEG. We here describe clinical features and video-EEG records of six adult patients with MSE who did not have a prior diagnosis of epilepsy. In four out of six patients, MSE was precipitated by drugs. Two out of four patients had chronic renal disease and received beta lactam group antibiotics. Two other patients, who described chronic pain, developed MSE while taking pregabalin. One patient who had dementia and family history of juvenile myoclonic epilepsy (JME) developed MSE one month after quetiapine was introduced. Another patient, who had a recent ischemic stroke, developed MSE due to an unknown reason. In these last two patients, an immediate triggering factor was not evident. Myoclonic status epilepticus ceased in five out of six patients after withdrawal of the drugs and/or intravenous antiepileptic treatment. Myoclonic status epilepticus is a rare event in patients without epilepsy. A correct diagnosis and prompt drug discontinuation may reverse this severe and life-threatening condition.

Neurology, 1999

Seizure, 2013