Case Presentation

K.I. is a 2 week old male in the neonatal intensive care unit who had his first seizure this morning.

K.I. was born at 38 weeks, via vaginal delivery after an uncomplicated pregnancy. However, shortly after birth, K. began to develop difficulty breathing, temperature instability and was very irritable. On exam, he was found to have found to have multiple rib fractures and a right humorus fracture. He was transferred to the NICU, where he has remained due to his temperature instability.

This morning he had a witnessed tonic clonic seizure, accompanied by tachycardia and elevated blood pressure. Unfortunately, the nurse that witnessed the seizure has gone home. The neonatologist has loaded K. with 20 mg/kg phenobarbital.

Meds- Phenobarbital

Pregnancy/Birth history-Pregnancy uncomplicated.
Born via vaginal delivery at 38 weeks, APGAR scores of 4 and 8. Birth weight of 3300 grams.

Family History- Maternal grandfather with hypertension. Maternal side with history of diabetes. Paternal side with history of lung cancer.

Social History- Mother and father are married, with 2 daughters at home, twins 2 years old. K. has not yet been home.

ROS- negative except as noted above

PE-On exam, he is arousable, moving legs and left arm spontaneously. Right arm is in a splint. Vital signs are stable and he is afebrile. Weight is 3.1 kilograms, 52 centimeters long, head circumference is 35 centimeters.
HEENT- head is normocephalic and atraumatic, anterior fontanelle is soft, tympanic membranes are gray and pearly with good landmarks and movement. The mucus membranes are moist, oropharynx is nonerythematous and without exudate, palate high. 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, some nasal flaring
Abdominal- Soft and nontender, no masses are palpable, small umbilical hernia present, easily reduced
Extremities- No clubbing, cyanosis or edema, warm and well perfused with capillary refill less than 2 seconds. Splint on right arm.
Neuro

Cranial Nerves
  • CN II- fundi sharp without papilledema or retinal hemorrhages
  • CN III, IV, VI- extraocular muscles intact without nystagmus, pupils equal and reactive to light
  • CN IX, X- Palate rises symmetrically, gag intact

Motor- Normal tone and muscle bulk, strength in left arm and both legs equal
Reflexes- 2+ bilaterally in the biceps, brachioradialis, triceps, patella and ankle, right arm deferred. Toes are up going bilaterally. Bilateral plantar grasp and left palmar grasp present, positive rooting, moro deferred.

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

Ceruloplasmin
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!