Case Presentation K.U., 2 year old female presents with her mother, who is concerned about movements during sleep, she is concerned that they may be seizures. The movements began at about 12 months, and have been increasing in severity. The movements are jerking movements of all four limbs, often somewhat violent. She can't stop the movements if she tries to hold on to her daughter, however the movements stop when she awakens her daughter. She has noticed that the movements occur during both naps and at night. She has not noticed any odd behavior during the day such as staring spells, and there have been no witnessed events during the day that she would describe as seizure-like. PMH/PSH- Recurrent ear infections, tubes placed at 14 months. No other medical problems Medications/Allergies- NKDA, multivitamin Developmental History- Compared to 2 older siblings, seems to be normal. Rolling over at about 5 months, walking at 12 months, currently speaks in short sentences, feeds herself and is very social. Pregnancy/Birth History- Mother has 2 older children, ages 12 and 15. 3 miscarriages. Pregnancy ok until 3rd trimester, when mother was induced at 38 weeks for increasing blood pressure. Baby went home with mom. Family History- Maternal cousin of patient with intractable epilepsy, currently on many medications. Family history of cardiac disease on maternal side, ovarian cancer on paternal side. Social History- Lives at home with Mom, Dad, 2 older half siblings 12 and 15, 2 dogs. No tobacco exposure. ROS- negative except as noted above On exam, her vital signs are stable and she is afebrile. Weight is 12 kilograms, 85 centimeters tall, head circumference is 48 centimeters. She is happy and easily engaged. 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 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- No ataxia seen during exam, able to reach out for things without trouble 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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