Disclosures: Alyssa M. Volmrich, MD, MBA: No financial relationships or conflicts of interest

Case Diagnosis: Extensive Deep Venous Thrombosis in a Pediatric Patient with Rasmussen’s Encephalitis

Case Description or Program Description: An 11-year-old female with Rasmussen’s encephalitis and refractory seizures despite optimal medical management underwent a right frontotemporoparietal craniotomy for functional hemispherectomy. Post-operatively, she developed significant cognitive deficits and left-sided hemiplegia, for which she was subsequently transferred to acute inpatient rehabilitation. During her course, she was found to have an extensive deep venous thrombosis (DVT) in left lower extremity.

Setting: Inpatient Rehabilitation at a Public Trust Pediatric Hospital

Assessment/Results: A few days into her rehabilitation stay, the patient developed recurrent fevers. Initial infectious work-up was unrevealing until subtle swelling and pain in her left paretic limb led to venous Doppler studies. The ultrasound was notable for an extensive, acute occlusive DVT extending from the popliteal vein to the external iliac vein with involvement of the superficial femoral vein at all segments and the common femoral vein. Given the burden of disease, coagulopathy workup was performed and revealed two MTHFR 677T variant alleles.

Discussion (relevance): Rasmussen’s encephalitis is a rare, chronic inflammatory neurologic disease characterized by refractory seizures that most often occurs in children. DVTs are rare in the pediatric population and commonly associated with acquired hypercoagulability. The MTHFR enzyme is necessary for efficient recycling of homocysteine, and patients with homozygous 677T mutations only produce 30% of a functional enzyme, predisposing them to increased homocysteine levels. Elevated homocysteine has been correlated to both venous thromboses and epilepsy.

Conclusions: This appears to be the first documented case of a DVT in a patient with Rasmussen’s encephalitis and begs the question if these diagnoses could be related to the inherent gene mutation. Further research is needed to determine if MTHFR mutations may be an underlying cause.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/diving-deep-a-case-report-involving-genetic-mutations-in-a-patient-with-both-rasmussens-encephalitis-and-deep-venous-thrombosis/