Efficacy and safety of long-term sirolimus use as part of multidisciplinary care in a pediatric patient with CLOVES syndrome: Case report

BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal/spinal) syndrome is a rare and progressive genetic disorder resulting from somatic mosaicism in activating mutations in the phosphatidylinositol-4,5- bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. PIK3CA is a cell growth master regulator where gain of function mutations give rise to abnormal activation of the PI3K-AKT- mammalian target of rapamycin (mTOR) pathway. Treatment with sirolimus, an mTOR inhibitor, may therefore be of benefit in patients with CLOVES syndrome. OBJECTIVE: Here we describe the efficacy and toxicity of sirolimus in a pediatric patient with progressive CLOVES syndrome. RESULTS: The child presented with a large and painful abdominal malformation, massive overgrowth of his feet, limb length discrepancy and genu valgum. There was dramatic clinical and radiographic improvement in the size and comfort of his abdominal mass within several months of initiating medical therapy. This, combined with orthopaedic care of his genu valgum, leg length discrepancy, and overgrowth of his feet, has allowed for significant functional gains. CONCLUSIONS: Multidisciplinary care is essential for comfort and functional gains in patients with CLOVES syndrome, particularly those with severe symptoms. Close monitoring while on sirolimus medical therapy combined with frequent reassessment of orthopedic needs can dramatically improve patient quality of life and outcomes.

Demographic Characteristics and Functional Levels of Patients With Fragility Fractures Who Accept Tele-rehabilitation as an Alternative to Face-to-face Home Rehabilitation

There is a gap in the evidence on telerehabilitation (TR) for people with fragility fractures. It is unclear whether this group with recent falls who are often frail with cognitive changes will accept tele-rehabilitation and functional gains can be achieved using this approach. Prospective observational study of consecutive patients admitted with femoral or pelvic fracture to a hospital-based home rehabilitation service (HRS) between January and November 2017. Using tablets, multidisciplinary rehabilitation was provided via videoconferencing and use of exercise apps. Patients chose a face-to-face visit or TR. Information on demographic characteristics, functional levels, the total number of therapy sessions, TR episodes, reasons for non-acceptance of TR, and patient-reported experience using TR was collected. Fifty-two patients with hip and pelvic fractures were admitted to the HRS and 35 (67.3%) received TR. Patients who did not accept TR were older, frailer and more likely to be female than those who received TR. Of the 17 who did not receive TR, 6 were deemed unsuitable by staff due to hearing, vision or cognitive problems and 3 refused. The TR group achieved acceptable functional gains. In the TR group on average, participants had 13.63 (± 7.29) home visits however they only elected to have 3.43 (± 2.48) sessions delivered via TR. TR was acceptable to a subset of hip fracture patients but face-to-face was the preferred mode of delivery. More research is needed to understand patients’ preferences and beliefs, and the influence of clinician attitudes on uptake of TR.