Case Presentation

One week prior to presentation, the parents of a 4 1/2 year old boy began to notice episodes of falling associated with stiffening of all four extremities, lasting 10 to 60 seconds. He has had four of these spells. He has had no clonic activity with any of these episodes. During these spells, the patient has been unresponsive to voice or touch. His eyes either close or roll straight back. On one occasion, he was incontinent of urine. After the spells, he has been tired for up to an hour.

His parents have also noted some other spells, but had not thought much about them until now. For the last two months, he has repeatedly fallen for no reason. He does not appear to trip on anything, but will just suddenly collapse, but then immediately get up. He does not appear to lose consciousness. This occurs several times per day, but he will have frequent episodes every morning in which he will suddenly drop his head. Each of these drops last less than one second. He once cut his chin with one of these falls. For the last 6-12 months, they have noticed episodes of daydreaming in which he is unresponsive to voice. The spells last up to 20 seconds, and are occasionally associated with him repeatedly wiping his left arm with his right hand. Afterwards, he may seem briefly confused.

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

Resources
Developmental Milestones
Growth Charts- Boys
Growth Charts- Girls


Tests Complete
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