Case Presentation A six-month old girl presented with progressive loss of developmental milestones. She was born after a full-term, uncomplicated pregnancy. Labor and delivery were uncomplicated, and she did well for the first three months of life. By that time, she was responsively smiling, starting to roll from prone to supine, had good head controlled, fixed and tracked visually, and fed well. However, by four months of age, her mother wondered if she was getting sick. She did not feed quite as vigorously and seemed a bit less active, although this was subtle. She also had not gained new milestones. By five months of age, however, she clearly had poorer control of her head, was smiling less, and was not rolling at all. By six months, she was relatively inactive, rarely tracked visually, had poor head control, and was irritable most of the time. Vocalizations stopped. She also seemed somewhat stiff in all four limbs. She had no seizures but since early infancy seemed to have an extremely strong startle response to auditory stimuli. Sometimes the startles were repetitive in response to single stimuli. Her parents did not note any apneas or periods of hyperventilation. Her past medical history was otherwise negative. She was on no medications and had no allergies. Immunizations were up to date. Physical examination: Anterior fontanelle was full, but not bulging. She was alert but moderately irritable. Because of poor cooperation, her fundi could not be visualized. Pupils were equal and reacted from 3 to 2 mm. Eye movements were conjugate and full, but she did not consistently fix or track. Her face was strong and symmetric. She had considerable head lag and truncal hypotonia. Tone was mildly to moderately increased in all four extremities, right = left. She withdrew from noxious stimuli but had no other purposeful movements. Deep tendon reflexes were brisk, and toes were upgoing bilaterally. She had a sustained asymmetric tonic neck reflex and a persistent Moro reflex . She was unable to lift her head prone or to sit. Respirations were 22/min and regular. Social History- Noncontributory Family History- There was no consanguinity, and her parents were well. Both parents are of French Canadian descent. She had no siblings.	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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