Case Presentation

A 15 year old girl came to the Emergency Room because of double vision. This started the week before and at first was intermittent but is now persistent. She sees the two objects side-to-side, and the separation is greatest when she looks to the left. She has had no other problem with her vision. However, for the last month, she has been having progressively worsening headaches. These are diffuse, tend to be maximal first thing in the morning, and worsen when she lies down. She has occasionally been woken up by headaches. She has had no nausea or vomiting. There have not been sensory changes, weakness, change in her coordination, or cognitive changes. She's had no ptosis, dysarthria, dysphagia, tinnitus, or hearing loss. She has not had any head injuries or seizures. This has never happened before, and she has no history of prior headaches.

On examination, her weight is 82 kg and blood pressure 140/78. Mental status was normal. On cranial nerve examination, pupils equally reacted from 4.5 to 3.0 mm. She was sligtly photophobic and her fundi were difficult to see well. Visual fields were full to confrontation in each eye. She had limited abduction of her left eye. There was no ptosis. The rest of her cranial nerves were normal. She had normal muscle bulk, tone, and strength. Fine finger movements, deep tendon reflexes, finger-nose-finger testing, gait, and tandem gait were normal. Her toes went down bilaterally. Sensation was intact to detailed testing.

Past Medical History- Her past history is positive only for moderate obesity and acne. Her only medications are tetracycline and ibuprofen.

Family History- Negative. No one gets headaches.

Social History- She is a B student and does not smoke or use drugs or alcohol. She is not sexually active.

Review of Systems- Negative

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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