ABSTRACT
Case Presentation ................................................................................................... 125 Differential Diagnosis ............................................................................................ 126 Diagnostic Approach ............................................................................................. 128 Treatment Strategy ................................................................................................. 128 Pathophysiology/Neurobiology of the Disease ...................................................... 129
Epilepsy in Tuberous Sclerosis Complex .................................................... 130 Outcome ................................................................................................................. 131 Clinical Pearls ........................................................................................................ 131 Suggested Reading ................................................................................................. 132
Our patient was 2½-years-old when she rst presented to us for further evaluation and management of her intractable seizures. She was an Egyptian girl born full term after an uneventful pregnancy and vaginal delivery. At birth, several hypopigmented macules were noted on her skin. She began having seizures on the rst day of life. Seizure semiology consisted of eye gaze to one side followed by generalized clonic activity. Neurologic investigations included lumbar puncture, metabolic studies, electroencephalography (EEG), and cranial magnetic resonance imaging (MRI). MRI showed multiple bilateral cortical tubers. Echocardiogram disclosed the presence of cardiac rhabdomyomas. With these clinical ndings, a denite diagnosis of tuberous sclerosis complex (TSC) was made. Her seizures became controlled with phenobarbital for one and a half years and, thereafter, the medication was discontinued. However, the seizures recurred and persisted despite trials of valproic acid, clonazepam, phenobarbital, and lamotrigine. Subsequently, she developed epileptic spasms consisting of sudden and brief exion of her neck, arms, and legs against her body. These episodes occurred in clusters, especially during drowsiness and upon arousal from sleep. Initially, she had only two or three spasms per cluster, but later on episodes increased up to 20 individual spasms in a cluster. She had globally delayed development, and at the age of 2½-years, she had no words and could not walk without support. There was no family history of
The causes of intractable epilepsy in children are heterogeneous. In the newborn period, intractable epilepsy is rarely idiopathic. Hence, extensive neurologic investigations should be performed in order to establish and, possibly, to treat the cause. In neonates, a broad range of systemic and central nervous system disorders can increase the risk for seizures, including hypoxic-ischemic encephalopathy, intracranial hemorrhage, and cerebral malformations. TSC has rarely been reported as a
tuberous sclerosis or epilepsy. On physical examination, she was microcephalic with head circumference of 46 cm (less than second percentile). Multiple hypopigmented macules were noted on her face and trunk. On neurological examination, she was awake and alert, but she spoke no words. Her neurologic examination was normal except for her inability to walk without support.
