Case Presentation K.H., a 12 year old male, presents to the pediatric neurology clinic for evaluation of incoordination and difficulty walking. K. was in his usual state of health until about 6 months ago when he became increasingly clumsy. Although his parents describe his as normally a clumsy kid, he began to have difficulty performing motor skills such as writing and buttoning shirts. In addition, he began to fall very often when walking. He says that he feels his legs are weak, and he has been unable to run for quite a while. PMH/PSH- Diabetes Mellitus, diagnosed at age 7. Medications/Allergies- Insulin, NKDA Developmental History- Walked at 19 months, talking in 3-4 word combinations by 2 years, reading at 5 years. Has never been able to skip or jump. Pregnancy/Birth History- Pregnancy was uneventful, born via vaginal delivery at 41 weeks, 8 pounds 2 ounces. Went home with mom. Family History- Father with hyperlipidemia. Maternal grandfather with rheumatoid arthritis. No family history of epilepsy, migraines or neurodegenerative diseases. Social History- Lives at home with parents and younger brother, age 7. Currently in the 7th grade, straight A student and class president. ROS- Negative except as noted above. PE- On exam, K. appears younger than his stated age, his vital signs are normal and he is afebrile, he is 142 centimeters, 35 kilograms, head circumference 50 centimeters. Throughout the exam he is pleasant and cooperative. 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 Thorax- Lungs are clear to auscultation bilaterally, breathing easily without accessory muscle use. Mild kyphoscoliosis is present. 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. The feet have very high arches 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, muscle bulk seems normal in the upper extremities but decreased in the lower extremities, strength 4/5 in arms and 4-/5 in the legs bilaterally Coordination- Finger nose finger, rapid alternating movements, fine finger movements are performed awkwardly with some increasing tremor near the target on finger nose finger. Unable to perform heel knee shin Sensation- Intact to proprioception, light touch and temperature in the upper and lower extremities bilaterally. Vibration intact in the upper extremities, but decreased in the lower extremities. Reflexes- 2+ bilaterally in the biceps, brachioradialis, triceps. Unable to obtain reflexes in the patella and ankle despite multiple attempts. Toes are up going bilaterally. Gait- Gait is very unsteady, romberg is positive, unable to perform tandem gait.	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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