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treat lymphatic and venous malformations with strong evidence for
reduction in malformation size. However, little is known regarding
functional changes after treatment.
Setting:
Outpatient Children’s Hospital.
Results:
(1) A 12-month-old female presented with a capillary-
venous-lymphatic malformation involving the musculature of the
right thigh and calf. She had difficulty weight bearing on the right
leg in crawling and stance. Four months after starting sirolimus she
was pulling to stand, weight bearing on the right, and recovered
her motor milestones. (2) A 12-year-old female presented with a
venous-lymphatic malformation of the left lateral foot including
the 4th metatarsal bone and foot musculature. She had severe
throbbing, burning pain, sleep disturbance, gait impairment, and
used a wheelchair for community distances. She was started on
sirolimus and within 2 months had a significant reduction in pain,
returned to walking community distances, and sleep quality was
restored. (3) A 13-year-old male presented with a right buttock and
lower extremity lymphatic-capillary malformation with muscular
involvement associated with Klippel-Trenauny syndrome. Func-
tionally, he could walk less than one block and had average
strength of 2+ in the right leg. Sirolimus was initiated and after 2
months he was able to walk through the school and no longer
needed a wheelchair. After 6 months of treatment he returned to
gym classes, strength improved to an average of 3+, and he could
climb up and down stairs with reciprocal pattern.
Discussion:
The three patients across pediatric age groups presented
in this case series demonstrate significant strength and pain related
functional gains that occurred after short-term sirolimus treatment of
congenital lymphovascular malformations.
Conclusions:
More experience is needed to fully define duration of
treatment and longer-term outcomes in these complex patients.
Level of Evidence:
Level V
Poster 452:
Congenital Myotonic Dystrophy Type 1 and Myasthenia
Gravis with Thymoma: A Case Study
Alexandra Paraskos, MD (Wm Beaumont Hosp, Troy, MI, United States)
Disclosures:
Alexandra Paraskos: I Have No Relevant Financial Re-
lationships To Disclose
Case/Program Description:
A 20-year-old female presented to the
hospital with myasthenic crisis. During hospitalization, enlargement of
the thymus was revealed on computed tomography of the chest. The
patient has a past medical history of congenital myotonic dystrophy
type 1, originally presenting at the age of three with poor feeds,
diffuse hypotonia, and global developmental delays with cognitive
impairment. Family history is positive for myotonic dystrophy type 1 in
her mother, brother, and uncle. She had been diagnosed with myas-
thenia gravis after presenting to the hospital with respiratory failure as
a teenager. Immunologic serology was positive for acetylcholine re-
ceptor antibody. She also previously presented with a right mandibular
mass consistent with ameloblastic carcinosarcoma.
Setting:
Inpatient Hospital Admission.
Results:
The patient’s myasthenic crisis subsequently improved with
increase in immune globulin, plasmapheresis and pyridostigmine
dosing adjustments. Due to recurrent hospitalizations, she was not a
candidate for thymectomy. The patient was maintained on pyrido-
stigmine and monthly intravenous immune globulin infusions. The
patient once again presented to the hospital shortly after discharge
with myasthenic crisis due to presumed aspiration pneumonia. Due to
progressive decline and inability to follow up as an outpatient for
treatment of thymus enlargement, the patient underwent thorascopic
thymectomy and pathology revealed thymoma.
Discussion:
Congenital myotonic dystrophy type 1 is characterized
early by respiratory failure, poor feeding, and extreme hypotonia.
Patients who survive early childhood have high cardiopulmonary
mortality rates. Myotonic dystrophy has recently been linked to an
increased incidence of malignancy. Myotonic dystrophy type 1 in as-
sociation with myasthenia gravis and thymoma has not been well
characterized.
Conclusions:
An association between myotonic dystrophy and malig-
nancy has been suggested in the literature, but a correlation with
thymoma is unknown. Although the correlation of myotonic dystrophy
and myasthenia gravis with thymoma is rare, consideration of a rela-
tionship is warranted in patients with recurrent hospitalizations
related to respiratory failure.
Level of Evidence:
Level V
Poster 453:
Treatment with Gabapentin in the Management of
Neuropathic Pain Secondary to Radical Resection of
High-Grade Osteosarcoma in a Pediatric Patient with
Li Fraumeni Syndrome: A Case Report
Vivek Sindhi, MD (MS3) (Brody School of Medicine, Greenville, NC,
United States), James E. Eubanks, DC, MS
Disclosures:
Vivek Sindhi, MD: I Have No Relevant Financial Re-
lationships To Disclose
Case/Program Description:
A 14-year-old girl with history of severe
right hip pain and difficulty with ambulation was found to have a high-
grade osteosarcoma of the right pelvis and right femur head associated
with Li Fraumeni Syndrome. She completed a 10-week course of
chemotherapy with methotrexate, doxorubicin, and cisplatin. She
then underwent radical resection of the tumors 4 weeks after
completing chemotherapy. The patient was subsequently transferred
to pediatric inpatient rehabilitation.
Setting:
Pediatric Inpatient Rehabilitation at Tertiary Care Hospital
Results:
On day 1 of rehabilitation, she reported severe right lower
extremity pain with a pain score of 10 out of 10. She was initiated on
gabapentin therapy at 200mg three times a day (TID) for lower ex-
tremity neuropathic pain secondary to surgery. On day 2, the gaba-
pentin was increased to 300mg TID. On day 5, the gabapentin was
increased to 400mg TID and was continued on at this dose. On day 13,
the patient reported complete resolution of her right lower extremity
pain with a pain score of 0 out of 10.
Discussion:
There is a paucity of research examining the successful
treatment of neuropathic pain secondary to definitive surgery for os-
teosarcoma in pediatric populations. This is the first reported case, to
our knowledge, of successful treatment with gabapentin of neuro-
pathic pain secondary to radical resection for lower extremity osteo-
sarcoma in a pediatric patient with Li Fraumeni Syndrome.
Conclusions:
Treatment with gabapentin should be considered in
pediatric patients with neuropathic pain secondary to radical resec-
tion of osteosarcoma of the lower extremity, including those with rare
and serious oncogenic conditions such as Li Fraumeni Syndrome.
Level of Evidence:
Level V
Poster 454:
Movement Disorder Improved with Levodopa-
Carbidopa in a Patient with Traumatic Brain Injury
Undergoing Acute Rehabilitation: A Case Report
Rohan Kapoor, MD (WA Hosp Cntr/Georgetown Univ)
Disclosures:
Rohan Kapoor: I Have No Relevant Financial Relationships
To Disclose
Case/Program Description:
Our patient is a 17-year-old female with
anoxic brain injury undergoing acute inpatient rehabilitation. She
presented with deficits in functioning; impaired speech secondary to
dystonic facial movements, as well as dystonic movements in all four
extremities. The dystonic movements were limiting the improvement
of functionality during the acute rehabilitation process. After the
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Abstracts / PM R 9 (2017) S131-S290