Clinical Features and Ultrasound Findings of a Rare Musculoskeletal System Disease--neuromuscular Choristomas

Background: Neuromuscular choristomas (NMCs) as exquisitely rare developmental lesions have previously been established associated with recurrent fibromatosis after surgery, led to multiple operations, or even amputation. Yet, the report about ultrasound imaging features and clinical conditions of NMCs was rare. The purpose of this study was to describe the ultrasound features and clinical analysis of NMCs to provide suggestions to the optimal management strategy.Methods: From 2020 September to 2021 September, 7 patients with a confirmed diagnosis of NMC who underwent ultrasound examination in our department were enrolled into our study. Physical examinations were performed to detect motor deficit, sensory deficit, neuropathic pain, limb undergrowth, muscular atrophy, cavus foot and bone dysplasia. Ultrasound imaging were performed and investigated in both involved nerve and neuromuscular choristomas associated desmoid-type fibromatosis (NMC-DTF). All patients had a definite history and regular follow up. The clinical course, physical examinations, ultrasound features and pathologic results of NMC patients were analyzed.Results: Seven patients with an average age of 7.0±7.2 years (range: 2-22 years) were enrolled into our study. Nerves involved included the sciatic nerve (6 cases) and the brachial plexus (1 case). 6 patients (85.7%) presented with manifestations of limb undergrowth, 6 (85.7%) with muscular atrophy, and 5 (71.4%) with cavus foot deformity. Based upon ultrasound findings, all visible involved nerve segments presented with hypoechoic and fusiform enlargement with intraneural skeletal muscle elements. Five patients (71.4%) had NMC-DTFs at the site of the affected nerve. All NMC-DTFs were shown as hypoechoic solid lesion adjacent to the nerve and well-circumscribed. In the subset of surgery group, all 5 patients presented with progression to NMC-DTFs at the site of the NMCs. No fibromatosis was detected in the other two non-surgery patients. Conclusions: Understanding of the typical ultrasound features and clinical associated conditions would help to early diagnose the rare disease. When a potential diagnosis is made, invasive procedure like biopsy or resection might be not a good choice given frequent complication by aggressive recurrence.

Cavus Foot Correction Using a Full Percutaneous Procedure: A Case Series

Cavus foot is a tri-planar deformity that requires correction in several bones and soft tissue. Minimally invasive surgeries are less aggressive, faster and easier to recover from. Here, we describe the initial results of a technique for percutaneous cavus foot correction. The procedure consists of calcaneal dorsal/lateral closing wedge osteotomy (with fixation), cuboid, medial cuneiform and first metatarsal closing wedge osteotomy (without fixation), and plantar fascia and tibialis posterior tenotomy with the patient in the prone position. Immediate weight bearing is permitted. Twenty patients were selected to undergo the procedure. The mean follow-up was 4.2 months and mean age 42.3 years. Eight of the 20 patients were submitted to cuboid and first metatarsal osteotomy, and 12 (60%) only calcaneal osteotomy. The median time for complete bone healing was 2.2 months. No wound complications were observed. No cases of non-consolidation of the cuboid or first metatarsal osteotomies were detected. The most common complication was sural nerve paresthesia. This is the first description of cavus foot correction using a minimally invasive technique. Complete bone healing is obtained even with immediate weight bearing and without cuboid and first metatarsal fixation.

How to manage pes cavus in children and adolescents?

Pes cavus in its different forms is not a pathological entity, but rather the manifestation of multiple diseases. Cavovarus, a form of cavus foot, should never be considered a physiological deformity. A neurological condition should always be excluded. The evolution of pes cavovarus is unpredictable because of the large number of conditions involved in its aetiology, as well as their variable degree of expression. About 66% of cavovarus feet are the result of subtle neurological diseases, which only become evident later in life. Although surgery may not change quality of life, recent studies suggest that it may improve foot posture and reduce walking instability. The aim of treatment is to preserve a painless, plantigrade, mobile foot. Management consists of correcting bone deformity while preserving movement, and the wise use of rebalancing techniques. Arthrodesis should only be a salvage procedure. Cite this article: EFORT Open Rev 2021;6:510-517. DOI: 10.1302/2058-5241.6.210021

Mutations in Frizzled Class Receptor 4 Associated With Congenital Cavus Foot Deformity

BackgroundCongenital cavus foot deformity (CFD) (congenital =present at birth) is a disease very disabling that could connected to the mobility, neurologic entities and the imbalance of synergistic intrinsic and extrinsic muscles of the patients, and the problem is even dynamic (often progressive). Here, we report the clinical and radiographic manifestations of one Chinese Han congenital CFD family and 23 congenital CFD patients. In the congenital CFD family, the proband’s mother and brother are also CFD patients. ResultsWe performed whole-exome sequencing for three patients and two healthy people in this family, and sequenced the Frizzled Class Receptor 4 (FZD4) for the other. One novel FZD4 mutation (exon2 c.1589G>A; p.G530E, NM_012193) was identified. Then mutations in FZD4 gene were further examined in 23 congenital CFD patients, and also find FZD4 mutation (FZD4:NM_012193:exon1:c.205C>T:p.H69Y) in one congenital CFD patient. ConclusionsOur study suggested that the congenital cavus foot deformity might be associated with the identified mutations in FZD4.