-
Medicine Apr 2024Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering...
RATIONALE
Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering the etiology of JS, peripheral nervous system abnormalities cannot be excluded; however, cases of JS accompanied by peripheral nervous system abnormalities have not yet been reported. Distinct radiological findings on brain magnetic resonance imaging were considered essential for the diagnosis of JS. However, recently, cases of JS with normal or nearly normal brain morphology have been reported. To date, there is no consensus on the most appropriate diagnostic method for JS when imaging-based diagnostic approach is challenging. This report describes the case of an adult patient who exhibited bilateral peroneal neuropathies and was finally diagnosed with JS through genetic testing.
PATIENT CONCERNS AND DIAGNOSIS
A 27-year-old man visited our outpatient clinic due to a gait disturbance that started at a very young age. The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor apraxia was observed on ophthalmic evaluation. During diagnostic workups, including brain imaging and direct DNA sequencing, no conclusive findings were detected. Only nerve conduction studies revealed profound bilateral peroneal neuropathies. We performed whole genome sequencing to obtain a proper diagnosis and identify the gene mutation responsible for JS.
LESSONS
This case represents the first instance of peripheral nerve dysfunction in JS. Further research is needed to explore the association between JS and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing JS when no prominent abnormalities are detected in brain imaging studies.
Topics: Humans; Male; Adult; Kidney Diseases, Cystic; Cerebellum; Eye Abnormalities; Peroneal Neuropathies; Abnormalities, Multiple; Retina; Magnetic Resonance Imaging
PubMed: 38669389
DOI: 10.1097/MD.0000000000037987 -
PloS One 2024Our aim was to determine the number and size parameters of EDB motor units in healthy young adults using MScanFit, a novel approach to motor unit number estimation...
OBJECTIVE
Our aim was to determine the number and size parameters of EDB motor units in healthy young adults using MScanFit, a novel approach to motor unit number estimation (MUNE). Since variability in MUNE is related to compound muscle action potential (CMAP) size, we employed a procedure to document the optimal EDB electromyographic (EMG) electrode position prior to recording MUNE, a neglected practice in MUNE.
METHODS
Subjects were 21 adults 21-44 y. Maximum CMAPs were recorded from 9 sites in a 4 cm2 region centered over the EDB and the site with the largest amplitude was used in the MUNE experiment. For MUNE, the peroneal nerve was stimulated at the fibular head to produce a detailed EDB stimulus-response curve or "MScan". Motor unit number and size parameters underlying the MScan were simulated using the MScanFit mathematical model.
RESULTS
In 19 persons, the optimal recording site was superior, superior and proximal, or superior and distal to the EDB mid-belly, whereas in 3 persons it was proximal to the mid-belly. Ranges of key MScanFit parameters were as follows: maximum CMAP amplitude (3.1-8.5 mV), mean SMUP amplitude (34.4-106.7 μV), mean normalized SMUP amplitude (%CMAP max, 0.95-2.3%), largest SMUP amplitude (82.7-348 μV), and MUNE (43-103). MUNE was not related to maximum CMAP amplitude (R2 = 0.09), but was related to mean SMUP amplitude (R2 = -0.19, P = 0.05).
CONCLUSION
The EDB CMAP was highly sensitive to electrode position, and the optimal position differed between subjects. Individual differences in EDB MUNE were not related to CMAP amplitude. Inter-subject variability of EDB MUNE (coefficient of variation) was much less than previously reported, possibly explained by better optimization of the EMG electrode and the unique approach of MScanFit MUNE.
Topics: Humans; Adult; Electromyography; Male; Female; Muscle, Skeletal; Motor Neurons; Action Potentials; Young Adult; Peroneal Nerve
PubMed: 38669263
DOI: 10.1371/journal.pone.0302214 -
The Journal of Bone and Joint Surgery.... Apr 2024To our knowledge, there have been no studies examining peroneal nerve decompression and proximal fibular osteochondroma excision exclusively in patients with multiple...
BACKGROUND
To our knowledge, there have been no studies examining peroneal nerve decompression and proximal fibular osteochondroma excision exclusively in patients with multiple hereditary exostoses (MHE). The purpose of this study was to evaluate the indications, complications, and recurrence associated with nerve decompression and proximal fibular osteochondroma excision in patients with MHE.
METHODS
The records on patients with MHE undergoing peroneal nerve decompression from 2009 to 2023 were retrospectively reviewed. Indications, clinical status, surgical technique, recurrence, and complications were recorded and were analyzed using the Fisher exact test, logistic regression, and the Kaplan-Meier method.
RESULTS
There were 126 limbs identified in patients with MHE who underwent peroneal nerve decompression. The most common indications were pain over the proximal fibula, tibialis anterior and/or extensor hallucis longus weakness, and dysesthesias and/or neuropathic pain. Seven cases experienced postoperative foot drop as a complication of the decompression and osteochondroma excision. Logistic regression found significant relationships between complications and excision of anterior osteochondromas (odds ratio [OR], 5.21; p = 0.0062), proximal fibular excision (OR, 14.73; p = 0.0051), and previous decompression (OR, 5.77; p = 0.0124). The recurrence rate was 13.8%, and all recurrences occurred in patients who were skeletally immature at the index procedure. The probability of skeletally immature patients not experiencing recurrence was 88% at 3 years postoperatively and 73% at 6 years postoperatively.
CONCLUSIONS
Indications for peroneal nerve decompression included neurologic symptoms and pain. The odds of a complication increased with excision of anterior osteochondromas and previous decompression. Recurrence of symptoms following decompression and osteochondroma excision was found exclusively in skeletally immature patients.
LEVEL OF EVIDENCE
Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.
PubMed: 38662808
DOI: 10.2106/JBJS.23.01398 -
Frontiers in Neurology 2024The aim of this study was to compare the clinical outcomes of spinal cord stimulation (SCS) and dorsal root ganglion stimulation (DRG-S) in the treatment of painful...
Comparison of the efficacy of spinal cord stimulation and dorsal root ganglion stimulation in the treatment of painful diabetic peripheral neuropathy: a prospective, cohort-controlled study.
OBJECTIVE
The aim of this study was to compare the clinical outcomes of spinal cord stimulation (SCS) and dorsal root ganglion stimulation (DRG-S) in the treatment of painful diabetic peripheral neuropathy (PDPN).
METHODS
In this prospective cohort study, 55 patients received dorsal column spinal cord stimulation (SCS group) and 51 patients received dorsal root spinal cord stimulation (DRG-S group). The primary outcome was a Numerical Rating Scale (NRS) remission rate of ≥50%, and secondary outcomes included the effects of SCS and DRG-S on quality of life scores (EQ-5D-3L), nerve conduction velocity, and HbA1c, respectively.
RESULTS
The percentage of NRS remission rate ≥ 50% at 6 months was 80.43 vs. 79.55%, OR (95% CI): 1.06 (0.38-2.97) in the SCS and DRG-S groups, respectively, and the percentage of VAS remission rate ≥ 50% at 12 months was 79.07 vs. 80.95%, OR (95% CI): 0.89 (0.31-2.58). Compared with baseline, there were significant improvements in EQ-5D and EQ-VAS at 6 and 12 months ( < 0.05), but there was no difference in improvement between the SCS and DRG-S groups ( > 0.05). Nerve conduction velocities of the common peroneal, peroneal, superficial peroneal, and tibial nerves were significantly improved at 6 and 12 months compared with the preoperative period in both the SCS and PND groups ( < 0.05). However, at 6 and 12 months, there was no difference in HbA1c between the two groups ( > 0.05).
CONCLUSION
Both SCS and DRG-S significantly improved pain, quality of life, and lower extremity nerve conduction velocity in patients with PDPN, and there was no difference between the two treatments at 12 months.
PubMed: 38660091
DOI: 10.3389/fneur.2024.1366796 -
European Review For Medical and... Apr 2024This study aimed to explore the effect of flipped venous catheters combined with spinal cord electrical stimulation on functional recovery in patients with sciatic nerve...
OBJECTIVE
This study aimed to explore the effect of flipped venous catheters combined with spinal cord electrical stimulation on functional recovery in patients with sciatic nerve injury.
PATIENTS AND METHODS
160 patients with hip dislocation and sciatic nerve injury were divided into conventional release and flipped catheter + electrical stimulation groups according to the treatment methods (n=80). Motor nerve conduction velocity (MCV) and lower limb motor function were compared. Serum neurotrophic factors brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF) were compared. The frequency of complications and quality of life were also compared.
RESULTS
The MCV levels of the common peroneal nerve and tibial nerve in the flipped catheter + electrical stimulation group were greater than the conventional lysis group (p<0.05). After treatment, the lower extremity motor score (LMEs) in the flipped catheter + electrical stimulation group was greater than the conventional lysis group (p<0.05). The serum levels of BDNF and NGF in the flip catheter + electrical stimulation group were higher than the conventional lysis group (p<0.05). The complication rate in the flipped catheter + electrical stimulation group was lower than in the conventional release group (6.25% vs. 16.25%, p<0.05). The quality-of-life score in the flip catheter + electrical stimulation group was greater than the conventional lysis group (p<0.05).
CONCLUSIONS
The flipped venous catheter combined with spinal cord electrical stimulation can improve nerve conduction velocity, lower limb motor function, serum BDNF and NGF levels, reduce complications, and help improve the quality of life of sufferers with sciatic nerve injury. Chictr.org.cn ID: ChiCTR2400080984.
Topics: Rats; Animals; Humans; Brain-Derived Neurotrophic Factor; Rats, Sprague-Dawley; Nerve Growth Factor; Quality of Life; Sciatic Neuropathy; Spinal Cord; Sciatic Nerve; Catheters; Electric Stimulation
PubMed: 38639504
DOI: 10.26355/eurrev_202404_35892 -
Cureus Mar 2024Schwannoma or neurilemmoma is a slow-growing tumor that develops from nerve sheaths. It is mostly benign and only rarely transforms into malignancy. The incidence of...
Schwannoma or neurilemmoma is a slow-growing tumor that develops from nerve sheaths. It is mostly benign and only rarely transforms into malignancy. The incidence of schwannoma is very low in the lower limbs. Schwannomas developing from the common peroneal nerve is unlikely. A middle-aged male presented with complaints of left knee pain, which was radiating to the left foot, and a painful swelling at the back of the knee. An intralesional excision was done, and the patient made a full recovery with no postoperative complications. The excised specimen was found to be a schwannoma of the common peroneal nerve of the left leg. At the one-month, three-month, and one-year postoperative follow-ups, the patient had no complaints of pain on passive and active dorsiflexion of the foot. There was complete recovery from paresthesia and intact sensation was present. This report shows that asymptomatic schwannomas can sometimes present with symptoms of pain. In such cases, careful and complete excision of the schwannoma can lead to full recovery.
PubMed: 38638731
DOI: 10.7759/cureus.56427 -
The Journal of Arthroplasty Apr 2024Total hip arthroplasty (THA) for dislocated hips (Crowe IV dysplasia) presents unique challenges. Conventional approaches involve subtrochanteric osteotomies, but are...
BACKGROUND
Total hip arthroplasty (THA) for dislocated hips (Crowe IV dysplasia) presents unique challenges. Conventional approaches involve subtrochanteric osteotomies, but are complex with additional fixation and potentially lead to limb length discrepancies, nerve palsies, and other complications. An alternative strategy is a staged approach, where the femoral head (or remnant) is gradually lowered (distraction technique) to align with the true acetabulum over a period of time, followed by a second-stage anatomically acetabular-positioned THA. External fixation distraction and telescoping internal lengthening devices have been utilized to achieve preoperative alignment. We evaluated these techniques, including the types, time, and amount of distraction needed, as well as outcomes and complication rates.
METHODS
In this retrospective case series, 14 patients (9 women, 5 men), who had a mean age of 32 years (range, 16 to 67), underwent staged surgical interventions using hip distraction using external fixators or internal lengthening devices for hip dysplasia and other pathologies (Perthes disease, osteonecrosis) in preparation for a second-stage anatomically placed THA. The mean follow-up duration for external-fixation patients was 10 years (range, 6.5 to 13.4).
RESULTS
Staged treatment involved external fixators (n = 8) or internal lengthening devices (n = 6) with a device placement mean of 48 days (range, 42 to 71). The amount of distraction ranged from 6 to 12 cm. There were 2 patients who required uncomplicated revision of the internal lengthening devices, and another patient had a temporary peroneal nerve palsy. There was 1 patient who underwent an acetabular revision at 7 years.
CONCLUSIONS
We focused on a challenging patient cohort that emphasizes the efficacy of staged interventions in managing Crowe Type IV dysplasia and similar cases. Favorable outcomes were found with the immediate transition to THA after device removal that effectively addressed soft-tissue contractures and femoral migration. Despite the need for further validation via larger, prospective studies, this innovative approach may pave the way toward optimizing this strategy for these difficult hip pathologies.
PubMed: 38631515
DOI: 10.1016/j.arth.2024.04.019 -
Plastic and Reconstructive Surgery.... Apr 2024Targeted muscle reinnervation (TMR), a surgical technique developed by the senior authors that coapts proximal ends of nerves to distal motor nerves of adjacent muscles,...
BACKGROUND
Targeted muscle reinnervation (TMR), a surgical technique developed by the senior authors that coapts proximal ends of nerves to distal motor nerves of adjacent muscles, has demonstrated efficacy in the treatment and prevention of neuroma pain. The objective of this study is to describe the surgical technique for TMR of the superficial peroneal nerve (SPN) and deep peroneal nerve (DPN) in nonamputee patients and provide data on postoperative functional outcomes.
METHODS
A single-institution retrospective chart review was performed between March 2018 and April 2021. Patients were de-identified and included if they were nonamputees receiving TMR for pain in the peroneal nerve distribution. Data extracted included demographic information, symptoms before operation, relevant nerve coaptation, peri-, and postoperative complications, and long-term functional outcomes.
RESULTS
Of the 19 patients reviewed, 11 patients underwent TMR of the SPN alone: eight had complete resolution of their symptoms; two indicated partial improvement in pain; and one patient had no improvement. Four patients underwent TMR of the DPN alone: two patients had complete resolution of their pain, and two patients had partial improvement with pain. Four patients underwent TMR of both the SPN/DPN: two patients had complete resolution of their symptoms, and two patients were noted to have significant improvement but had persistent pain from prior foot operations. Average follow-up time was 260 days.
CONCLUSIONS
TMR is a successful technique in the management of SPN and DPN neuroma pain. Our technique revealed excellent clinical outcomes, no procedure-specific complications, and improved subjective pain reports.
PubMed: 38623447
DOI: 10.1097/GOX.0000000000005742 -
Journal of Clinical Medicine Apr 2024: One of the main challenges of orthopedic surgery is adequate pain management after total knee arthroplasty. This work aimed to determine the anatomical safety area for...
: One of the main challenges of orthopedic surgery is adequate pain management after total knee arthroplasty. This work aimed to determine the anatomical safety area for infiltration through the posterior capsule of the knee in prosthetic surgery using Magnetic Resonance Imaging (MRI). : A descriptive, observational, cross-sectional study was performed on 126 knee MRIs. The variables studied were age, sex, and distance between different neurovascular structures of the popliteal fossa (tibial nerve, common peroneal nerve, and vascular bundle). Data were analyzed for normality (Kolmogorov-Smirnov) and variance homogeneity (Levène). A value of < 0.05 and a confidence interval of 9% were considered statistically significant for all comparisons. Student's -test was used to compare the means between independent samples. : We observed statistically significant differences between the sexes regarding EP-EPS (external plateau-external popliteal sciatic nerve (common peroneal)), EP-IPS (external plateau-internal popliteal sciatic nerve (tibial)), and IP-PA (internal plateau-popliteal artery) measurements. The average distance between both nerves, EPS-IPS (external popliteal sciatic nerve and internal popliteal sciatic nerve), was 25.96 mm in females, while the value obtained in males was 29.93 mm, but this difference was not statistically significant. : The average distance from the posterior capsule to the EPS and IPS nerves is greater in males than in females, despite no statistical differences. The presence of a lateralized arteriovenous bundle reduces the infiltration area of the external compartment. Regarding the safety area, infiltration of the internal compartment is safe since the volume diffuses into the muscle mass of the internal gastrocnemius upon injection. To infiltrate the external compartment, the needle must move at least 2 cm from the midline toward the external side (to exceed the maximum displacement of the neurovascular bundle established at 1.82 cm), and not advance beyond 0.76 cm (minimum distance at which we located the common peroneal nerve in the external compartment).
PubMed: 38610888
DOI: 10.3390/jcm13072123 -
Cureus Mar 2024Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder caused by heteroplasmic deletion of the peripheral myelin protein 22...
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder caused by heteroplasmic deletion of the peripheral myelin protein 22 (PMP22) gene. HNPP typically presents with clinical features such as peroneal nerve palsy or cubital tunnel syndrome, which are caused by mechanical compression. Diagnosing cases where neuropathy is absent at the pressure site can be challenging. This is a case study of an 18-year-old man who underwent surgery on the left side of his neck over 10 years ago to remove lymphadenopathy. Following the surgery, he experienced recurrent weakness but only sought medical attention when muscle weakness persisted for longer than a week postoperatively. Upon admission, the patient exhibited neurological symptoms consistent with C5 neuropathy, mainly affecting the deltoid muscles. No serological abnormalities were found to be associated with neuropathy. Neither magnetic resonance imaging nor computed tomography scans detected any lesions around the C5 nerve root. The posture during sleep was believed to cause excessive extension of the C5 nerve root, leading to the assumption that there was some vulnerability in the nerve. A transient sensory loss in the area innervated by the ulnar nerve prompted us to examine the fluorescence in situ hybridization study on the blood sample, which revealed a deletion of the PMP22 gene. The patient was diagnosed with HNPP and was advised to avoid risky postures. Following the implementation of these lifestyle changes, he did not experience any further weakness in his shoulders.
PubMed: 38601388
DOI: 10.7759/cureus.55948