Case Presentation J.B., a 11 year old right handed female with a significant history of epilepsy, presents to the pediatric neurology office for a routine follow up appointment. J. has a history of focal seizures since the age of 6, when she had a head injury during a motor vehicle accident. J.'s typical seizures occur about 3-4 times a week, and are focal complex seizures involving her right arm. During the seizures she typically is unresponsive, has clonic movements of her right arm, and her eyes dart about. Upon resolution of the seizure she is slightly confused, has some weakness of her right arm, and may have some slurring of her speech. She has had several generalized seizures, but none for several years. J.'s mother reports that recently J.'s seizures seem to be changing. Although she is still experiencing her typical seizures, about twice a week she seems to be experiencing a new type of seizure. The new seizures are highly variable, and seem to be nothing like her old seizures. At the onset of the seizure, J. often falls to the ground, however she has never hurt herself. Usually the new seizures are left sided, although they have been bilateral, and include non-rhythmic jerking movements on her upper and lower extremities. J.'s head often moves from side to side, and she sometimes drools during these episodes. After the seizure J. is confused, has a lot of difficulty forming words, and is unable to use her right arm for several hours. J.'s mother is very worried that these new seizures indicate that the area of brain damage has spread. She is convinced that the medication J. was on previously are no longer working, so she stopped them 3 weeks ago, since which time J. has been having her typical focal seizures once a day. She is requesting that J.'s "worthless medication" be changed, and that J. undergo all new imaging studies to see if the area of damage is spreading. PMS/PSH- Head injury at the age of 6 years. Focal complex seizures Medications/allergies- Depakote 500 mg po BID, discontinued 3 weeks ago. NKDA Developmental History- Mom recalls nothing being different from her other children. Pregnancy/Birth History- Pregnancy uneventful, born via vaginal delivery at 38 weeks, no complications, went home with mom. Family History-Maternal side with ovarian cancer in grandmother, great aunt and aunt. Paternal aunt and cousin with lupus. Paternal grandfather died of a heart attack at age 55. Social History- Lives at home with mom, a homemaker; dad, an engineer at a local auto plant; and 4 older siblings, sisters ages 15, 17 and brothers ages 13 and 19. There is no smoking in the home, and the family is very religious. ROS- negative except as noted above PE-On exam, her vital signs are stable and he is afebrile. Weight is 37 kilograms, 145 centimeters tall, head circumference is 54 centimeters. She appears to be a healthy, shy girl who looks her age. She is quiet, but cooperative during the exam. HEENT- head is normocephalic and atraumatic, tympanic membranes are gray and pearly with good landmarks and movement. The mucus membranes are moist, oropharynx is nonerythematous and without exudate. There is no cervical lymphadenopathy. Cardiac- Regular rate and rhythm, no murmurs, rubs or gallops Lung- Lungs are clear to auscultation bilaterally, breathing easily without accessory muscle use. Abdominal- Soft and nontender, no masses are palpable. Extremities- No clubbing, cyanosis or edema, warm and well perfused with capillary refill less than 2 seconds Neuro Cranial Nerves CN II- fundi sharp without papilledema, visual fields full to confrontation CN III, IV, VI- extraocular muscles intact without nystagmus, pupils equal and reactive to light CN V- Facial sensation intact and equal bilaterally CN VII-Facial strength intact CN VIII- hearing intact CN IX, X- Palate rises symmetrically CN XI- Sternocleidomastoid and Trapezius intact CN XII- Tongue protrudes midline Motor- Normal tone and muscle bulk, strength 5/5 in arms and legs bilaterally Coordination- Finger nose finger, rapid alternating movements, fine finger movements and heel knee shin performed without difficulty. Sensation- Intact to vibration, proprioception, light touch and temperature in the upper and lower extremities bilaterally Reflexes- 2+ bilaterally in the biceps, brachioradialis, triceps, patella and ankle. Toes are down going bilaterally.	Blood Tests Albumin and Protein Alpha-Feto Protein Ammonia Anti-AcetylCholine Receptor Antibody Titers Antiepileptic Drug Levels Anti-Nuclear Antibodies Anti-Streptococcal Titers Arterial Blood Gas Arterial Lactate, Pyruvate Biotinidase Assay Calcium Carnitine CBC with Differential Cholesterol Copper CPK Electrolytes Erythrocyte Sedimentation Rate FISH for Prader Willi, Angelman Syndromes FTA Glucose HIV Testing (Western Blot) Karyotype Lead Liver Function Tests Lysosomal Enzymes Magnesium PCR for Dystrophin Gene PCR for Fragile X Mutation PCR for SMN and NAIP Genes PCRs - Other Specific Tests Plasma Amino Acids Serum Immunoglobulin Levels Thyroid Function Tests VDRL Very Long Chain Fatty Acids Vitamin E Level Urine Studies 24 Hour Urinary Copper 24 Hour Urine Heavy Metals Reducing Substances Urinalysis Urine Amino Acids Urine Catecholamines Urine Mucopolysaccharides Urine Organic Acids Urine Protoporphyrins Urine Sulfites Urine Toxicology Screen CSF Studies AFB Staining and Culture Amino Acids Bacterial Culture Cell Counts Cryptococcal Antigen Cytology FTA Glucose and Protein Gram Stain IgG Index Lactate, Pyruvate Myelin Basic Protein Oligoclonal Bands Opening Pressure Tissue Studies Bone Marrow Biopsy Muscle Biopsy: Dystrophin Immunostaining Muscle Biopsy: Mitochondrial Enzymes Muscle Biopsy: Pathology Skin Biopsy for Fibroblasts Western Blot for Dystrophin Imaging Studies Abdominal CT Brain MR Angiogram Brain MRI Brain MR Venogram Carotid Doppler Catheter Angiogram Chest CT Echocardiogram Head CT without contrast Head CT with and without Contrast Head Ultrasound Orbital CT Spine MRI Electrophysiology Studies Brainstem Auditory Evoked Responses EEG EKG EMG, Nerve Conduction Velocities Sleep Studies Somatosensory Evoked Responses Visual Evoked Responses Specialized Studies Referral to Ophthalmology Wood's Lamp Throat Culture   Brain MRI
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