ABSTRACT
Case Presentation ................................................................................................... 153 Differential Diagnosis ............................................................................................ 155 Diagnostic Approach ............................................................................................. 155 Treatment Strategy ................................................................................................. 157 Long-Term Outcome .............................................................................................. 157 Pathophysiology/Neurobiology of Disease ............................................................ 157 Clinical Pearls ........................................................................................................ 158 Suggested Reading ................................................................................................. 158
A 9-month-old male, product of a nonconsanguineous marriage, was seen for management of intractable epilepsy. The pregnancy was unremarkable except for maternal supraventricular tachycardia (previous history of similar episodes). A left facial nevus was noted at birth. At the age of 6 weeks, parents noticed episodes of whole-body stiffness, arching, and upward eye rolling, followed by vomiting. He would become limp and lethargic for several minutes after the spells. Gastroesophageal reux was suspected but medical management proved unsuccessful. At the age of four months, a nocturnal episode of irritability, pallor, and vomiting lasting several hours was followed by right-sided hemiplegia, for which he was hospitalized. Ischemic stroke was suspected; however, an acute noncontrast brain computed tomography (CT) was normal. The right-sided hemiplegia gradually recovered over 4-6 weeks without residual weakness. Subsequently, parents noted new episodes of behavioral arrest, body stiffness, a dusky color, unresponsiveness, and right-foot jerking for 1-2 minutes. He would become limp, lethargic, and have right-arm weakness for several minutes after each spell. The spells occurred approximately once a day. Once every two weeks, this type of seizure would evolve into a generalized motor seizure. His seizures were treated with phenobarbital, phenytoin, oxcarbamazepine, and clonazepam without any success. At 8 months of age, his parents noticed left-hand preference, and concerns for developmental delay were raised. Physical examination was remarkable for port-wine nevus in the trigeminal V1 distribution involving the left upper eyelid and medial canthus. Dexterity was impaired,
and weakness was noted in the right hand and arm, especially when he tried to approach or transfer objects from the left hand, suggesting moderate right hemiparesis. Muscle tone, bulk, strength, and reexes were symmetrical on both sides. Video-electroencephalogram (EEG) monitoring revealed interictal sharp waves in the left parieto-occipital region, with continuous slowing and decreased background rhythm in the left hemisphere. Ictal EEG showed onset from the left parieto-occipital region during a typical complex partial seizure, ending in a right hemiclonic seizure. Brain magnetic resonance imaging (MRI) showed a typical nding of Sturge-Weber syndrome (SWS; Figure 20.1). Brain urodeoxyglucose-positron emission tomography (FDG-PET) showed hypermetabolism in the left posterior quadrant, suggesting increased FDG uptake due to a nearly continuous burst of interictal spiking. Ophthalmic examination revealed a likely right visual eld decit by confrontation testing; intraocular pressure and fundus examination were normal. After discussion of risks, benets, and alternatives, the patient underwent functional hemispherectomy at age 9 months. There was no further recurrence of seizures, and antiepileptic medications were discontinued 10 months after the surgery. At a 5-year follow-up, the patient remains seizure free and has mild developmental delay. He is ambulatory, with his left hand being weak and spastic.
