Case Presentation R.D. is a 6 year old male with Down's Syndrome who presents with his mother to the pediatric clinic. R.'s mother reports that R. has become increasingly difficult to control over the last few months. He seems to be very full of energy, hyperactive and somewhat impulsive. In addition, she has noted that he snores so loudly at night that he often awakens family members. Several times over the last few months she has gone into his room at night and noticed that he breathes very irregularly while he is asleep. Although R. does not complain of being tired, she wonders if his sleep is not as restful, resulting in the behavior changes during the day. PMH- Trisomy 21. VSD repair at 3 months Medications/Allergies- Penicillin causes hives. No current medications Developmental History- R.'s mother reports that although R. seems to be slightly delayed when compared to his siblings, she is doing well in his special education kindergarten class. He is able to dress and feed himself, he is very social and has a large vocabulary, although he does have a speech impediment. Pregnancy/Birth History- Mother is a 44 year old G3P3, pregnancy was uneventful. Born via vaginal delivery at 39 weeks, went home with mom. Trisomy 21 was diagnosed via amnio. Family History- Mother was adopted. Father with hypertension. Paternal Grandfather died of lung cancer at 45. Social History- Lives at home with parents, brother age 15, sister age 18 is away at college. R. attends a special education kindergarten class each day for 3 hours. ROS- Negative except as noted above, except for recurrent headaches in the morning, about 3 days a week. PE- R. is a happy, very interactive boy who appears his age and has features consistent with Down's Syndrome. On exam, his vital signs are stable, his weight is 16 kilograms, he is 104 centimeters tall and his head circumference is 51 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 exudates, the tonsils are large. 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 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 Sensation- Intact to vibration, light touch 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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