Case Presentation K.I. is a 2 week old male in the neonatal intensive care unit who had his first seizure this morning. K.I. was born at 38 weeks, via vaginal delivery after an uncomplicated pregnancy. However, shortly after birth, K. began to develop difficulty breathing, temperature instability and was very irritable. On exam, he was found to have found to have multiple rib fractures and a right humorus fracture. He was transferred to the NICU, where he has remained due to his temperature instability. This morning he had a witnessed tonic clonic seizure, accompanied by tachycardia and elevated blood pressure. Unfortunately, the nurse that witnessed the seizure has gone home. The neonatologist has loaded K. with 20 mg/kg phenobarbital. Meds- Phenobarbital Pregnancy/Birth history-Pregnancy uncomplicated. Born via vaginal delivery at 38 weeks, APGAR scores of 4 and 8. Birth weight of 3300 grams. Family History- Maternal grandfather with hypertension. Maternal side with history of diabetes. Paternal side with history of lung cancer. Social History- Mother and father are married, with 2 daughters at home, twins 2 years old. K. has not yet been home. ROS- negative except as noted above PE-On exam, he is arousable, moving legs and left arm spontaneously. Right arm is in a splint. Vital signs are stable and he is afebrile. Weight is 3.1 kilograms, 52 centimeters long, head circumference is 35 centimeters. HEENT- head is normocephalic and atraumatic, anterior fontanelle is soft, tympanic membranes are gray and pearly with good landmarks and movement. The mucus membranes are moist, oropharynx is nonerythematous and without exudate, palate high. 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, some nasal flaring Abdominal- Soft and nontender, no masses are palpable, small umbilical hernia present, easily reduced Extremities- No clubbing, cyanosis or edema, warm and well perfused with capillary refill less than 2 seconds. Splint on right arm. Neuro Cranial Nerves CN II- fundi sharp without papilledema or retinal hemorrhages CN III, IV, VI- extraocular muscles intact without nystagmus, pupils equal and reactive to light CN IX, X- Palate rises symmetrically, gag intact Motor- Normal tone and muscle bulk, strength in left arm and both legs equal Reflexes- 2+ bilaterally in the biceps, brachioradialis, triceps, patella and ankle, right arm deferred. Toes are up going bilaterally. Bilateral plantar grasp and left palmar grasp present, positive rooting, moro deferred.	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 Ceruloplasmin 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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