Case Presentation W.S. is a 4 year old male who presents to the pediatric neurology clinic with his parents with a chief complaint of developmental delay. Compared to his older sister, W.'s parents think that he has always been behind developmentally. He did not begin to crawl until 11 months of age, did not walk until 20 months, and did not begin to use words specifically until 24 months. Currently W. is able to feed himself, although not with silverware, and is able to help dress himself. He walks on his own, but does not run, throw a ball or jump. In addition, he is very shy, making very little eye contact with others. PMH/PSH- none Medications/Allergies- no medications, NKDA Developmental History- As above Pregnancy/Birth History- Pregnancy was uneventful, delivered via cesarian section secondary to fetal distress at 38 weeks. Did well in the hospital, went home with mom. Family History- Maternal grandmother and uncle with migraines, father with diabetes since at 7, older sister with diabetes. Social History- Lives at home with mom and dad, both work as realtors. Also at home are a 9 year old sister and 2 year old brother. Currently attending ROS- negative except as noted above PE- On exam, W.'s vital signs are normal and he is afebrile. He is 17 kilograms, 110 centimeters and his head circumference is 54 centimeters. Throughout the exam he is very shy, hiding behind furniture and ignoring commands. HEENT- Head is normocephalic and atraumatic, although his face seems long and he has large ears, 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 difficult to assess CN III, IV, VI- extraocular muscles intact without nystagmus, pupils equal and reactive to light CN VIII- hearing intact CN IX, X- Palate rises symmetrically CN XII- Tongue protrudes midline Motor- Normal tone and muscle bulk, strength 5/5 in arms and legs 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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