| Description |
This case is published courtesy of Daniel J. Costello, M.D., Department of Neurology, Massachusetts General Hospital, Boston. The patient is a 32-year-old right-handed man with an established diagnosis of Tuberous Sclerosis Complex characterized by: -medically intractable epilepsy -developmental delay -structural brain abnormalities (cortical and subcortical tubers, subependymal nodules, subependymal giant cell astrocytomas) -cutaneous manifestations (facial angiofibroma, periungal angiofibromas, hypomelanotic macules, shagreen patches), -retinal phakomas -renal abnormalities (cysts, angiomyolipomas, renal cell carcinoma) -cardiac rhabdomyomas -pulmonary lymphangioleiomyomatosis Past History: -His birth history is unknown -prolonged febrile convulsion age 11 months -convulsive seizures in childhood; stopped in mid-teen years -Psychosis -Bipolar affective disorder -Diabetes Mellitus -Vitamin D deficiency In 2008, he was referred to the Epilepsy clinic for evaluation of persistent recurrent episodes, which are different to previous convulsions. These began at age of 15 and are highly stereotypic and characterized by: 1.Involuntary rotary movements of his eyes in a clockwise direction accompanied by 2.Synchronous elevation of both eyebrows and usually 3.Accompanied by persistent facial grimacing similar to risus sardonicus. These focal spells last anywhere from 1 minute to 20 minutes but on an average last 7 to 8 minutes during which time he is apparently totally lucid and able to converse normally. They have, however, become problematic and very distressing for him. Therapy: Initially suspecting that these episodes are epileptic seizures, the patient went through a trial of numerous anti-seizure medications including primidone, phenobarbital, phenytoin, lamotrigine, carbamazepine, and sodium valproate. The most successful medication to date is lamotrigine. Re: Tuberous sclerosis complex (TSC-2 gene mutation) This diagnosis was suspected in 1978 (2nd year of life) due to hypomelanotic macules on skin examination. This disorder is characterized by: -medically intractable epilepsy -developmental delay -structural brain abnormalities (cortical and subcortical tubers, subependymal nodules, subependymal giant cell astrocytomas) -cutaneous manifestations (facial angiofibroma, periungal angiofibromas, hypomelanotic macules, shagreen patches), -retinal phakomas -renal abnormalities (cysts, angiomyolipomas, renal cell carcinoma) -cardiac rhabdomyomas -pulmonary lymphangioleiomyomatosis The patient also carries the following diagnoses: -Psychosis -Bipolar affective disorder -Diabetes Mellitus -Vitamin D deficiency There is no past history of medications associated with facial dystonia such as anti-depressant medication. He has not been prescribed lithium. General examination: Blood pressure 138/74 mmHg Dermatological examination shows: Facial adenoma sebaceum Numerous hypomelanotic macules One small shagreen patch on the right lumbar region Neurological examination: The patient has an average to low IQ He is easily distractible and has impaired attention. Speech normal He is able to read and write but, unable to do simple arithmetic or complex tasks that require sustained attention. Cranial nerve examination: Normal In particular he has normal facial movements and facial sensation. Normal tongue and palate movements with no palatal tremor. Motor system: Muscle tone is diffusely increased with a subtle spastic catch Motor strength and trunkal strength normal Deep tendon reflexes symmetric and normal with flexor plantar responses. Sensory examination: Normal No cerebellar ataxia, gait normal, Romberg negative. Neuro-ophthalmological examination: Visual acuity -OD 20/200 due to childhood amblyopia -OS 20/30 Pupils 4 mm OU reactive to light and near fixation. Visual fields full, normal fundus examination. Ocular Motility: Esotropia OD Full eye movements Hypermetric horizontal and vertical saccades Primary position left beating nystagmus Convergence normal Video-EEG monitoring showed no associated epileptiform EEG abnormalities during a period of eyebrow tremor. Brain MRI : In this case showed the typical appearance of numerous subependymoma nodules and a moderate burden of cortical tubers, characteristic of tuberous sclerosis. Figure 1. Axial FLAIR image shows numerous cortical tubers, the largest of which involves the left occipital cortex Figure 2. Coronal FLAIR image shows cortical tuber involving the left occipital cortex Figure 3. Axial T2WI through medulla oblongata demonstrating normal inferior olivary nuclei Differential Diagnosis: 1.Focal seizures of occipital lobe origin The semiology of occipital lobe seizures is variable and may include involuntary, forced eye movements. The duration of these events with retained awareness as well as the lack of epileptiform abnormality on EEG during these events suggests that these episodes are not epileptic in nature. The events have proven refractory to anti-seizure medications. However, none of these features definitively excludes the possibility of partial seizures of occipital lobe origin. 2.Focal facial dystonia The rhythmic eyebrow tremor is at a frequency of about 2 to 3 Hz, and their appearance together with facial grimace and movements raises the possibility of a focal dystonia of some type. Even in the absence of palatal tremor, synchronous with the eyebrow tremor, the possibility remains that this is a manifestation of partial hypertrophy of the inferior olivary nuclei, unilateral or bilateral. Possibly consistent with this hypothesis is the period of status epilepticus in childhood accompanied by prolonged anoxia. Literature Search: We are unaware of any similar case apart from a patient who died following status epilepticus who had identical eyebrow movements prior to death. (Personal communication from a neurologist in Chennai, India). See also: http://content.lib.utah.edu/cdm/ref/collection/ehsl-shw/id/355 |
