Case Presentation The pediatric neurology service has been contacted by the inpatient child psychiatry unit. S.E. is an 8 year old male, was admitted last week after increasing emotional lability that has become out of control. Over the past two to three months, S. has become very unpredictable in his behavior. His parents report that they did not know how he would react at any given time, often sobbing or laughing without cause, at home and in school. In addition, he has become very restless, often fidgeting so much that he is unable to complete schoolwork, as a result his grades have dropped. Over the last couple of weeks he has become very clumsy, so much so that he is unable to feed himself since he can not hold silverware. He was hospitalized after his emotional outbursts become so worrisome to his parents that they wondered if he had become mentally unstable. Over the last week he has been placed on several psychotropic drugs, which have not controlled his emotional outbursts. In addition, he has become increasingly restless, and over the past few days he has had random movements of his limbs, especially his hands and feet, that he is unable to control. The psychiatrists would like help with diagnosis, and control of the emotional outbursts. PMH/PSH- Recurrent strep throat infections, tonsillectomy scheduled for last week was cancelled due to hospitalization. Medications/Allergies- Valproic Acid 125 mg po BID, Fluoxetine hydrochloride 10 mg QD po, Clonazepam 0.5 mg po prn, NKDA Developmental History- Mom believes that development was normal. Walking about 12 months, talking in 2-3 word combinations by 2. Currently in 3rd grade, doing well. Pregnancy/Birth History- Born at 39 weeks via vaginal delivery. Mom G1P1, pregnancy without problems, no complications at birth, went home with mom. Family History- Mom with history of depression, currently in remission. Maternal grandfather with hypertension. Paternal grandmother with diabetes. Paternal aunt with generalized anxiety disorder. Social History- Lives at home with mom and dad, both of whom are very involved. ROS- negative except as noted above PE- On exam, S. is a very restless, fidgeting kid with intermittent, random movements of his extremities. The movements are not stereotyped, and do not appear to have a pattern. S. is alert and oriented to person, place and time. Throughout the exam he demonstrates emotional lability, crying and laughing at inappropriate times. Overall, he is cooperative with the exam. His vital signs are stable and he is afebrile. His weight is 25 kilograms, height is 130 centimeters and head circumference is 53 centimeters. 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 rubs or gallops, 2/6 systolic murmur loudest at left midclavicular line, about the 5th intercostal space. Questionable diastolic murmur in the same location. 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 are difficult to assess, 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 muscle bulk, strength 4-/5 in arms and legs bilaterally, decreased tone throughout Coordination- Finger nose finger, rapid alternating movements, fine finger movements and heel knee shin unable to perform. 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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