Belthur, Mohan V.

Background: Type IV Hereditary Sensory and Autonomic Neuropathy (HSAN IV) is an exceedingly rare autosomal recessive disease classically characterized by generalized loss of temperature/pain sensation, intellectual disability, and anhidrosis. HSAN IV patients are subject to repeated orthopaedic injuries and complications. There is some data on the clinical presentation, but limited data on the diagnostic and treatment challenges, and functional outcomes with HSAN IV. Methods: This is a retrospective case series of 4 siblings with HSAN IV. Medical records were reviewed for data regarding presentation, diagnosis, and management. Functional outcomes were assessed using the Pediatric Outcomes Data Collection Instrument, with historical normative data used as a control. The 2 populations were evaluated with a Welch-modified 2-sample t test to explore the alternative hypothesis that HSAN IV patients are significantly functionally impaired. Results: Our study included 4 siblings, 2 males and 2 females, aged 3, 8, 12, and 21 years, respectively. The average time to diagnosis was 53 months, and each diagnosis was confirmed through whole-exome sequencing. The challenges faced included delayed diagnosis, diverse clinical presentations, unestablished treatment guidelines, and unnecessary healthcare utilization before definitive diagnosis. The comparison of means between the normative population and the HSAN IV patients revealed a significant difference in sports/play ( T -score =−4.14, P =0.025) and global function ( T -score =−3.19, P =0.049) but no significant difference in upper extremity function ( P =0.216), transfer mobility ( P =0.164), pain/comfort ( P =0.955), and happiness ( P =0.995). Conclusions: HSAN IV is a rare genetic condition with protean clinical manifestations that can result in significant deficits in play and global function. The clinical manifestations are varied, including multiple fractures, delayed/abnormal fracture healing, bone deformity, osteomyelitis, and various other non-orthopaedic manifestations. Whole-exome sequencing is a useful tool that, when combined with a high index of clinical suspicion, can expedite the diagnostic process for HSAN IV. Patients can benefit from earlier diagnosis and earlier access to education to prevent functional deterioration and repeat medical interventions. Level of Evidence: IV—case series.

Background: Ultrasonography (US) is the first-line diagnostic tool used to assess fetal musculoskeletal (MSK) anomalies. Associated anomalies in other organ systems may benefit from evaluation via Magnetic Resonance Imaging (MRI). In this study, we compared the diagnostic accuracy of US and MRI to diagnose fetal MSK (primary objective) and non-MSK anomalies (secondary objective). We describe additional findings by low-dose computerized tomography (CT) in two cases incompletely characterized via US and MRI. Materials and Methods: This was an IRB-approved retrospective study of consecutive patients with suspected fetal MSK anomalies examined between December 2015 and June 2020. We compared individual MSK and non-MSK anomalies identified via US, MRI, and CT with postnatal outcomes. Sensitivity and specificity for US and MRI were calculated and compared. Results: A total of 31 patients with 112 MSK and 43 non-MSK anomalies were included. The sensitivity of MRI and US for MSK anomalies was not significantly different (76.6% vs. 61.3%, p = 0.3). Low-dose CT identified eight additional skeletal anomalies. MRI diagnosed a higher number of non-MSK anomalies compared to US (81.4% vs. 37.2%, p < 0.05). Conclusions: Fetal MRI and US have comparable sensitivity for MSK anomalies. In selected cases, low-dose CT may provide additional information. Fetal MRI detected a larger number of non-MSK anomalies in other organ systems compared to US. Multimodality imaging combining all the information provided by MRI, US, and CT, if necessary, ultimately achieved a sensitivity of 89.2% (95% CI: 83.4% to 95.0%) for the diagnosis of musculoskeletal anomalies and 81.4% for additional anomalies in other organs and systems.

Purpose: This study aims to describe the incidence of postoperative urinary retention among pediatric patients undergoing orthopedic surgery and identify risk factors. Methods: The Pediatric Health Information System was used to identify children aged 1–18 years who underwent orthopedic surgery. Collected from each patient’s record were demographic information, principal procedure during hospitalization, the presence of neurologic/neuromuscular conditions and other complex chronic medical conditions, the total postoperative length of stay, and the presence of postoperative urinary retention. Results: The overall incidence of postoperative urinary retention was 0.38%. Children with complex chronic neuromuscular conditions (OR 11.54 (95% CI 9.60–13.88), p = < 0.001) and complex chronic non-neuromuscular medical conditions (OR 5.07 (95% CI 4.11–6.25), p ≤ 0.001) had a substantially increased incidence of urinary retention. Surgeries on the spine (OR 3.98 (95% CI 3.28–4.82, p ≤ 0.001) and femur/hip (OR 3.63 (95% CI 3.03–4.36), p ≤ 0.001) were also associated with an increased incidence. Conclusions: Children with complex chronic neuromuscular conditions have a substantially increased risk of experiencing postoperative urinary retention. Complex chronic non-neuromuscular medical conditions and surgeries to the spine, hip, and femur also carry a notably increased risk.

Coccidioidomycosis is an invasive fungal infection caused by the inhalation of aerosolized spores of Coccidioides spp., which reside in the arid soil of the southwestern United States and northern Mexico. The primary infection occurs in the lungs; however, less than 40% of patients are symptomatic. Dissemination of coccidioidomycosis is rare (1-5%), but can lead to extra pulmonic disease involving any organ. Skeletal coccidioidomycosis occurs in 10% to 50% of disseminated infections. Skeletal coccidioidomycosis is a chronic and progressive infection that eventually results in bone destruction and loss of function and often involves adjacent structures such as joints, muscles, tendons and other soft tissues. This infection is frequently multifocal with axial skeletal involvement. Although radiographs and other imaging methods identify relevant abnormalities, histopathologic examination with culture of the involved bone is the only means to confirm the diagnosis. Serologic testing is adjunctive, and complement fixation titers can be evaluated serially to assess response to treatment. Skeletal coccidioidomycosis is difficult to treat, and a combination of medical therapy and surgical debridement often is needed. Early diagnosis and treatment are critical to avoid long-term problems.