Case Presentation A.J., an 8 year old left handed female presents to the general pediatric clinic with her mother for increasing bad behavior. Her mother reports that A. has been daydreaming very often. She says that she frequently stares out the window or at the wall, and refuses to answer when she calls her name. After about 20-30 seconds she responds, seems her normal self, but denies that her mother was calling her name. She does this several times a day, most frequently right after school. In addition, her teacher reports that she has been having trouble paying attention in class, and her grades have been falling from As and Bs to Bs and Cs. Her mother is requesting a prescription for Ritalin. PMH/PSH- History of exercise induced asthma. Up to date on vaccinations Medications- Albuterol prn, NKDA Developmental History- Mother reports that there were no problems. She walked at 12 months, was speaking 2-3 word phrases at 24 months. Currently in second grade Pregnancy and Birth History- Mom is now G2 P1, 1 elective abortion in 1990. Pregnancy was uneventful, mom did smoke 1 pack of cigarettes per day during her pregnancy. Born at 41 weeks via cesarian section secondary to fetal distress. 6 lbs, 5 ozs at birth. Went home from the nursery with mom. Family History- Maternal grandmother has diabetes and hypertension. Maternal grandfather died of lung cancer at 65. A maternal uncle has schizophrenia. Mother has a history of depression and anxiety, she is currently on Paxil and takes Xanax prn. She also has a history of marijuana and cocaine use. Paternal family history is unavailable. Social History-Lives at home with his mother, age 35, her new husband, and his sons ages 12 and 10. Mother is a receptionist at a trucking company, stepfather is a prison guard. Her father has not been involved in her life since his parent's divorce 3 years ago. A. has had difficulty adjusting to her new life, and has not been getting along with her new stepfamily. Both mom and stepfather smoke in the home. ROS- negative PE- On exam, her vital signs are stable and she is afebrile. Weight is 30 kilograms, 132 centimeters tall, head circumference is 55 centimeters. She appears to be a well nourished and healthy black female. She is interactive, and appropriate for her age. 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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