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with sustained clonus at the left ankle and 5 beats of clonus at the right ankle.
Plantar reflexes were present bilaterally.
Electrolytes, glucose, urea nitrogen, total protein, albumin, calcium, phosphorus,
magnesium, creatine kinase, triglycerides, thyrotropin, copper and
carbohydrate-deficient transferrin were normal as were the anion gap.
Liver function test normal.
Lansoprazole, lactulose, lorazepan and glycerin suppositories were administered.
On the 1
st
hospital day
o Patient had 2 episodes of respiratory distress and cyanosis, similar to
previously reported.
Temperature: 35.3 C
Blood Pressure: 98/50mm HG
Pulse Rate: 75 130 beats/min
Respiratory Rate: 50 breaths/min
O2 saturation: 97% while breathing on oxygen at rate of 3 L/min thru nasal
cannula.
o Patient was transferred to pediatric ICU.
o Bilevel positive airway pressure was administered by face mask with
improvement.
On the 2
nd
day
o Apnea and cyanosis occurred intermittently
o Otolaryngolic exam revealed incomplete vocal-cord adduction.
o Bronchoscopy revealed mild main-stem and lower lobe bronchomalacia on
the left side.
o Central venous catheter was placed in the right saphenous vein.
o Gabapetin was beguBlood and urine amino acid profile were normal.
The next day,
MRI was performed without administration of contrast material :
Revealed pontomedullary hypoplasia.
A diminutive corpus callosum.