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. 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. Motor-
Normal tone and muscle bulk, strength
in left arm and both legs equal Urine
Studies 24
Hour Urinary
Copper Urine
Catecholamines Urine
Protoporphyrins CSF
Studies AFB
Staining and
Culture Lactate,
Pyruvate Tissue
Studies Muscle
Biopsy: Mitochondrial
Enzymes Imaging
Studies Carotid
Doppler Head
CT with and without
Contrast Electrophysiology
Studies Specialized
Studies Resources Tests
Complete
Born via vaginal delivery at 38 weeks,
APGAR scores of 4 and 8. Birth weight of
3300 grams.
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.
NeuroCranial
Nerves
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.
24
Hour Urine Heavy
Metals
Reducing
Substances Urinalysis
Urine
Amino Acids
Urine
Mucopolysaccharides
Urine
Organic Acids
Urine
Sulfites
Urine
Toxicology Screen
Amino
Acids
Bacterial
Culture
Cell
Counts
Cryptococcal
Antigen
Myelin
Basic Protein
Oligoclonal
Bands
Opening
Pressure
Muscle
Biopsy: Pathology
Catheter
Angiogram
Chest
CT
Echocardiogram
Head
CT without contrast
Head
Ultrasound
Orbital
CT
Spine
MRI
Growth
Charts- Boys
Growth Charts- Girls