Case Presentation H.V., a 6 year old female is brought in to the clinic by her mother, who is concerned about her behavior at night and the possibility of seizures. H.'s parents have recently noted nightly episodes of strange behavior. Usually, they will hear thrashing noises, which alert them to the problem. When they arrive in H.'s room, she is writhing about in her bed, with somewhat rhythmic, but difficult to describe movements of both her arms and her legs. At this time she is usually somewhat responsive, however she acts very terrified and is somewhat incoherent on questioning. PMH/PSH- none, on no medications, NKDA, up to date on all immunizations Developmental history- Walking at 16 months, speaking 2-3 words at 30 months. Currently in first grade, receiving special help in both reading and math. Pregnancy/Birth History- Mom G5P2, pregnancy was uneventful. Born at 36 weeks via vaginal delivery without complications, went home with mom. Family History-Older sister with generalized tonic-clonic seizures, currently on valproic acid and diastat . Mom with type 1 diabetes. Maternal grandmother died of breast cancer at age 45. Paternal grandfather died of a heart attack at 62. Social History-Lives at home with both parents, 12 year old sister ROS- negative except as noted above. On exam, her vital signs are stable and she is afebrile. Weight is 20 kilograms, 115 centimeters tall, head circumference is 43 centimeters. She is bright and interactive. 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
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