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

Resources
Developmental Milestones
Growth Charts- Boys
Growth Charts- Girls


Tests Complete
 I'm ready to submit my diagnosis!