Age: 12.0
Sex: F
Vaccine: FLUN3, HPV4
Symptoms: Intensive care, Methylenetetrahydrofolate reductase deficiency, Nuclear magnetic resonance imaging brain abnormal, Sensory disturbance, VIIth nerve paralysis
Clinical narrative: Daughter had a stroke. Patient is a previously healthy young girl who had acute onset of her right arm feeling "funny" with described dystonic posturing while putting clothes away in her bedroom on the morning of October 21, 2012. She suddenly started screaming for her parents and complained of her right arm feeling "funny". While talking to her mother, mother could not understand what she was saying and the right side of patient's face started drooping. There was history of headache and no preceding illness, fever or trauma. Family called 911 but decided to take her to the local ER even before they arrived. In the emergency room. she underwent a head CT scan (normal), CXR and "blood work". After about 4 hours in the ER she was transported to hospital. She was admitted to hospital and subsequently developed jerking movements of the right arm for about 2 minutes. She was alert and aware throughout this time without alteration in sensorium. An EEG (October 21, 2012) was reportedly normal. She underwent a brain MRI scan (October 21, 2012) which was distorted by brace artifact, but raised concerns for "abnormal findings in the left cerebral cortex" which was felt to be most suggestive of focal post ictal change, although ischemia could not be fully excluded. She was placed in the ICU and showed gradual improvement each day. She was placed on aspirin (did not receive HEPARIN). The scan was repeated at 48 hours which again showed an "abnormality" of the "left cortex" with a similar differential diagnosis. MR angiogram and subsequent CT angiogram of the circle of Willis and neck was normal. She was hospitalized for a total of 6 days. Work up for stroke (see below) was negative apart for concerns on echocardiogram for a PFO with right to left shunt (October 21, 2012) and a homozygous for MTHFR C677T on her thrombophilia evaluation (with a normal homocysteine level). Patient was seen at the clinic on November 5, 2012 by my colleague, for a second opinion regarding her suspected stroke. She was also seen by dr in pediatric cardiology and repeat contrast echocardiogram here did not show evidence of a PFO. There as no atrial shunting by 2D imaging and color Doppler. Delayed positive contrast after 4 beats was not felt to be consistent with an atrial level shun. If anything, it was felt to possibly be indicative for tiny pulmonary AVMs, but not a PFO. He felt the windows were good and that she did not require a transesophageal echo. Patient was also seen by dr in pediatric hematology for her homozygous (C677T) MTHFR mutation who recommended starting 1 mg a day of folic acid. She also recommended a rheumatology referral for a positive ANA in light of her stroke. Her anti-ENA panel and ds DNA antibodies were negative (see below). She was therefore seen by dr on November 30, 2012. Unfortunately, his note is not yet in the electronic medical record, however, per family, he was questioning reversible cerebral vasoconstriction syndrome (RCVS). The reason for this is unclear in the setting of reportedly normal MRA/CTA and no history of headache. Patient received two session of occupational therapy as an patient but did so well that this was stopped. She appears to have recovered fully from her stroke without residual symptoms. Her braces were removed and a repeat brain MRI and MRA scan was done today which showed encephalomalacia and gliosis in the left perirolandic region, compatible with her history of stroke. There were no new intracranial abnormalities. MRA angiogram of the circle of Willis showed patient intracranial circulation without evidence of stenosis, aneurysm or vascular malformation. Of note, patient had received the GARDASIL vaccination on September 14, 2012. She has had the chickenpox vaccine in the past.