Peroneal Palsy Research Articles

Complete foot drop due to atypical peroneal ganglion in a 13 ½ year old boy

IntroductionPeroneal nerve palsy due to compression by an intraneural ganglion is an uncommon entity in the pediatric setting with a need for surgical treatment. Uniquely in this case, the ganglion presented as an elongated instead of a typical round cyst, delaying diagnosis and treatment. Case presentationWe present the case of a 13 ½ year old boy with increasing peroneal nerve palsy due to an atypically shaped intraneural ganglion. An MRI of the knee revealed an elongated peroneal ganglion compressing the nerve between the lateral insertion of the gastrocnemius muscle and fibular head over a length of 10 cm. After surgical decompression and physiotherapy the peroneal nerve recovered well, achieving M 4 – 5 one year after surgery. ConclusionThe atypical shape of the present peroneal ganglion delayed diagnosis and correct treatment. Though rare in the pediatric setting, this entity must be specifically looked for during the diagnostic workup of peroneal palsy, for time to surgery determines neurological outcome.

Vascularized Fibular Epiphyseal Transfer for Pediatric Limb Salvage: Review of Applications and Outcomes

Summary: Vascularized fibular epiphyseal transfer (VFET) offers a functional advantage in pediatric limb salvage due to the preservation of growth potential and an articular surface for remodeling. This review summarizes the available evidence on the clinical characteristics and outcomes of pediatric reconstruction applying VFET at different recipient sites and with varying techniques. VFET was used to reconstruct the proximal humerus, distal radius or ulna, proximal femur, distal fibula, calcaneus, and mandible. Although most often harvested on the anterior tibial artery, VFET has also been performed using the peroneal artery, the inferior lateral genicular artery, and a dual pedicle. Recipient site flap inset most often involved fixation with plates and/or screws as well as soft tissue reconstruction using a retained slip of biceps femoris tendon. Outcomes included limb growth, range of motion, and strength. The most common reported complications were bone flap fracture and peroneal nerve palsy. The anterior tibial artery was the most applied pedicle with reliable limb growth, but with the added risk of postoperative peroneal palsy. Bone flap fracture most often occurred at the proximal humerus and femur recipient sites. Plate fixation and the combined use of allograft had lower instances of bone flap fracture. This review highlights how the anticipated dynamic growth and remodeling this free flap offers in the long term must be weighed against its complexity and potential complications.

Using the Scratch Collapse Test to Detect Clinical or Subclinical Peroneal Palsy in the Hospitalized Patient in Order to Prevent Falls

INTRODUCTION: The scratch collapse test (SCT) is an examination tool that can be used to localize and confirm a variety of nerve conditions. The implications and clinical utility in an inpatient population has not been extensively studied. The purpose of this study was to evaluate the use of SCT in a subset of hospitalized patients in order to identify the presence of subclinical PNP and thereby prevent falls.
 
 METHODS: Hospitalized adult trauma patients at a single, academic, level one trauma center were recruited for the study. Patients found to have a positive scratch collapse test of the peroneal nerve were randomized to either receive a short period of inpatient physical therapy or serve as a no-intervention control.
 
 RESULTS: Overall 29 patients (70.7%) recorded a positive SCT. Of those, 6 (20.7%) patients recorded a post-discharge fall. There were 14 patients with a positive SCT in the physical therapy intervention group with 2 patients (14.3%) who recorded a fall. There were 15 patients with a positive SCT in the no intervention group with 4 patients (26.7%) who recorded a fall.
 
 CONCLUSION: In this study, the SCT was used to identify subclinical peroneal nerve palsy, which could potentially lead to increased falls. While larger sample sizes are required for an adequately powered study, the SCT may serve as an inexpensive, useful tool in predicting which patients could be vulnerable to a post hospital fall due to subclinical peroneal nerve palsy.

Long-term physical and psychological outcome following traumatic hemipelvectomy

PurposeFirst time examination of the physical and psychological long-term outcome following traumatic hemipelvectomy.MethodologyIn this study, all patients suffering from traumatic hemipelvectomy that were treated in a level-A trauma center since 1988 were retrospectively evaluated. The authors aimed to compare the physical and psychological outcome following primary amputation (A) vs. limb-preservation (LP) procedures. The patients were examined with a focus on pain, function, mobility and general health. As part of this examination, various scores were recorded, i.e., Majeed Score, Time up & Go or SF-36.ResultsThe following work showed 13 patients who had suffered a traumatic hemipelvectomy, 8 of whom survived. Five of these were available for subsequent clinical re-examination; of these, three patients underwent an amputation, while limb preservation was performed on two patients. Mean follow-up of the amputee group was after 12 years compared to 6.5 years following limb preservation. After limb preservation, both patients reported phantom limb pain at the affected leg, despite pain medication. The general state of health was assessed as 82/100 (A) and 45/100 (LP). The Majeed score was 61 (A) vs. 45 (LP). In the clinical examination, three out of five patients (2 LP, 1 A) showed peroneal palsy (PP). In the quality-of-life analysis based on the SF12/36 and the NHP, amputees scored higher than the patients who underwent limb preservation surgery.ConclusionIn our small patient cohort, satisfaction, pain and mobility tend to be better following primary amputation compared to limb preserving surgery.

Previous corrective osteotomies of femur and pelvis are a risk factor for complications following total hip arthroplasty in hip dysplasia

BackgroundModified anatomy of dysplastic hips, bone defects and previous operations make THA (total hip arthroplasty) in patients with hip dysplasia a technically challenging procedure. MethodsOne hundred and ten patients (mean 49.2 years of age, range 19–76, female:103, male:7) underwent 122 subsequent hip arthroplasties from 2012 to 2019. These patients were reviewed at least two years after THA. Plain radiography was used to determine Crowe classification of the affected hips. Fifty-three patients had an operation in childhood before THA was done (mean 47.0 years of age, standard deviation 8.3, range 19–62) and formed the “operated group”. Among these patients, there were Chiari pelvic osteotomies, periacetabular osteotomies, femoral osteotomies, greater trochanter distalizations and soft tissue operations. Fifty-seven were not operated in childhood (mean 52.3 years of age, standard deviation 10.9, range 19–76) and formed the “non operated group”. The functional status of the patients was assessed with the Oxford Hip Score (OHS). Results122 total hip arthroplasties were performed using uncemented femoral and acetabular components. There were 13 major complications identified. Ten were in the “operated group”, of which 5 needed revision surgery. Only 3 were in the “non operated group”, with no need for revision. Aseptic loosenings of the femoral component were seen in the patients that had femoral osteotomy done in childhood. Acetabular component migration and intrapelvic migration occurred due to the initial malposition and lack of osteointegration, thus requiring early revision after just 6 months. Other major complications were peroneal palsy, deep periprosthetic infection, severe trochanteritis and intraoperative femoral fracture. OHS was significantly higher in the “non operated group” 42.3 (10–48), opposed to 39.1 (10–48) in the “operated group” (p 0.017). ConclusionCorrective osteotomies in childhood are a risk factor for complications and lower medium-term survivorship of the THA in hip dysplasia patients.

Distal posterolateral corner injury in the setting of multiligament knee injury increases risk of common peroneal palsy.

The purpose of this study was to identify if the location of posterolateral corner (PLC) injury was predictive of clinical common peroneal nerve (CPN) palsy. A retrospective chart review was conducted of patients presenting to our institution with operative PLC injuries. Assessment of concomitant injuries and presence of neurologic injury was completed via chart review and magnetic resonance imaging (MRI) review. A fellowship-trained musculoskeletal radiologist reviewed the PLC injury and categorized it into distal, middle and proximal injuries with or without a biceps femoral avulsion. The CPN was evaluated for signs of displacement or neuritis. Forty-seven operatively managed patients between 2014 and 2019 (mean age-at-injury 29.5 ± 10.7years) were included in this study. Eleven (23.4%) total patients presented with a clinical CPN palsy. Distal PLC injuries were significantly associated with CPN palsy [9 (81.8%) patients, (P = 0.041)]. Nine of 11 (81.8%) patients with CPN palsy had biceps femoral avulsion (P = 0.041). Of the patients presenting with CPN palsy, only four (36.4%) patients experienced complete neurologic recovery. Three of 7 patients (43%) with an intact CPN had full resolution of their clinically complete CPN palsy at the time of follow-up (482 ± 357days). All patients presenting with a CPN palsy also had a complete anterior cruciate ligament (ACL) rupture in addition to a PLC injury (P = 0.009), with or without a posterior cruciate ligament (PCL) injury. No patient presenting with an isolated pattern of PCL-PLC injury (those without ACL tears) had a clinical CPN palsy. Distal PLC injuries have a strong association with clinical CPN palsy, with suboptimal resolution in the initial post-operative period. Specifically, the presence of a biceps femoris avulsion injury was highly associated with a clinical CPN palsy. Additionally, CPN palsy in the context of PLC injury has a strong association with concomitant ACL injury. Furthermore, the relative rates of involvement of the ACL vs. PCL suggest that specific injury mechanism may have an important role in CPN palsy. IV.

Combined posterior and anterior ankle arthroscopy arthrodesis with triple hemisection Achilles tendon lengthening in equinus ankle contracture: a case report

Background: Arthroscopic surgery has been one of the fastest-growing surgical treatments of choice in orthopedics in the last decade. Ankle arthroscopy is an established treatment of choice for most ankle pathologies. It has generally been performed with the use of anterior portals with the patient in the supine position. Only a few articles have been published on ankle arthroscopy performed using posterior portals, particularly with the patient in the prone position. Various arthroscopy techniques have been successfully applied to the treatment of various ankle pathologies, including equinus ankle contracture.Case presentation: A 34-year-old female patient presented with an equinus gait 2 years prior to the consultation. This occurred after open reduction with internal fixation (ORIF) of her left proximal tibia fracture. After the surgery, the patient had chronic osteomyelitis complications and deep peroneal palsy (drop foot). The patient had four previous surgeries of debridement of the tibia until the infection healed. As the deep peroneal palsy was left untreated, the patient developed an equinus ankle contracture. Achilles tendon lengthening with triple hemisection was planned with combined posterior and anterior ankle arthroscopic arthrodesis procedure. This included the release of the tibiotalar and subtalar capsule, along with arthrodesis of the ankle with 2 cannulated screws.Conclusion: Triple hemisection Achilles tendon lengthening with combined posterior and anterior ankle arthroscopy arthrodesis is an effective treatment modality in equinus ankle contracture cases. Arthroscopy is beneficial as it minimally invasive, with less surgical duration time and is associated with faster recovery and less postoperative infections.Â

Ganglion Cysts of the Proximal Tibiofibular Joint: Low Risk of Recurrence After Total Cyst Excision.

Peroneal nerve neuropathy due to compression from tumors or tumor-like lesions such as ganglion cysts is rare. Few case series have been published and reported local recurrence rates are high, while secondary procedures are frequently employed. (1) What are the demographics of patients with ganglion cysts of the proximal tibiofibular joint, and what proportion of them present with intraneural cysts and peroneal nerve palsy? (2) What Musculoskeletal Tumor Society (MSTS) scores do patients with this condition achieve after decompression surgery with removal of the ganglion cyst, but no arthrodesis of the tibiofibular joint? (3) What proportion of patients experience local recurrence after surgery? Between 2009 to 2018, 30 patients (29 primary cases) were treated for chronic peroneal palsy or neuropathy due to ganglion cysts of the proximal tibiofibular joint at two tertiary orthopaedic medical centers with total resection of the cystic lesion. MRI with contrast and electromyography (EMG) were performed preoperatively in all patients. The minimum follow-up for this series was 1 year (median 48 months, range 13 to 120); 14% (4 of 29) were lost to follow-up before that time. The MSTS score was recorded preoperatively, at 6 weeks postoperatively, and at most-recent follow-up. A total of 90% of the patients were male (26 of 29 patients) and the median age was 67 years (range 20 to 76). In all, 17% (5 of 29) were treated due to intraneural ganglia. Twenty-eight percent (8 of 29) presented with complete peroneal palsy (foot drop). The mean MSTS score improved from 67 ± 12% before surgery to 89 ± 12% at 6 weeks postoperative (p < 0.001) and to 92 ± 9% at final follow up (p = 0.003, comparison with 6 weeks postop). All patients improved their scores. A total of 8% (2 of 25 patients) experienced local recurrence after surgery. Ganglion cysts of the proximal tibiofibular joint occurred more often as extraneural lesions in older male patients in this small series. Total excision was associated with improved functional outcome and low risk of neurologic damage and local recurrence, and we did not use any more complex reconstructive procedures. Tendon transfers may be performed simultaneously in older patients to stabilize the ankle joint, while younger patients may recover after decompression alone, although larger randomized studies are needed to confirm our preliminary observations. Level IV, therapeutic study.

Eosinophilic Granulomatosis with Polyangiitis with Pulmonary and Cardiac Involvement

A 62-year-old patient with bronchial asthma and chronic rhinosinusitis underwent inguinal hernia surgery. After the operation, sudden circulatory arrest occurred, requiring cardiopulmonary resuscitation. Coronary angiography revealed a 99 % proximal stenosis of right coronary artery (RCA) with unsuspicious and smooth coronary vessel walls. In the further course, several similar events occurred, but without pathological findings in the coronary angiography. Initially, echocardiography showed slightly reduced left ventricular ejection fraction of 45 %. Chest radiography revealed bilateral pulmonary infiltrates, and white blood cell count showed severe eosinophilia (37 %). Serological antibody testing including ANA, ENA and c-/p-ANCA was negative. Myeloproliferative pathologies were excluded by bone marrow puncture. The patient suffered from emerging dyspnea, weakness, and ongoing weight loss. A methylprednisolone pulse of 250 mg/d for 3 days remained without significant effect, so that the patient was eventually referred to our university hospital due to ongoing clinical deterioration. On admission, the patient suffered from weakness, progressive muscular atrophy, and dyspnea on exertion. Physical examination revealed a right-sided peroneal paralysis. Bronchial lavage detected severe eosinophil alveolitis (37 %), and laboratory findings showed elevated cardiac enzymes and NT-proBNP (Troponin-T > 700 ng/l, NT-proBNP > 10.000 ng/l). Echocardiography revealed a dramatic deterioration of cardiac function (LVEF 16 %). Interdisciplinary discussion between pulmonologists and cardiologists lead to the diagnosis of ANCA-negative eosinophilic granulomatosis with polyangiitis (EGPA) with pulmonary and cardiac involvement. Initiation of immunosuppressive therapy with methylprednisolone 1000 mg/d for 3 days followed by cyclophosphamide therapy (6 pulses, administered every 4 weeks) led to substantial symptomatic improvement, complete regression of pulmonary infiltrates and marked recovery of cardiac function (LVEF 47 %). CONCLUSION: Serological detection of elevated ANCAs is not necessary for diagnosis of EGPA. Only 30 - 70 % of patients are positive for these, particularly if neurological and/or renal rather than cardiac and/or pulmonary involvement is present. This may be a pitfall in establishing the correct diagnosis. Induction therapy with cyclophosphamide is the preferred treatment for steroid-refractory EGPA with life-threatening organ involvement.

Adverse Local Tissue Reaction due to Mechanically Assisted Crevice Corrosion Presenting as Late Instability Following Metal-on-Polyethylene Total Hip Arthroplasty

BackgroundMechanically assisted crevice corrosion (MACC) at modular junctions can cause a spectrum of adverse local tissue reactions (ALTRs) in patients who have undergone total hip arthroplasty (THA). The purpose of this study is to describe the presentation, treatments, and related complications of a cohort of patients presenting with late instability following metal-on-polyethylene THA due to underlying MACC and ALTR. MethodsThis multicenter retrospective case series presents 17 patients (12 women, mean age 62.6, range 42-73) presenting with late instability secondary to ALTR and MACC. All patients had a metal (Cobalt Chrome)-on-polyethylene bearing surface. Patients experienced a mean 2.7 dislocations (range 1-6) at mean 4.3 years (range 0.4-17.0) following their index surgery. Serum metal levels (n = 12) demonstrated a greater elevation of cobalt (mean 6.9, range 0.13-20.88 ng/mL) than chromium (mean 1.9, range 0.13-3.23 ng/mL). ResultsPatients were revised for instability at a mean of 6.8 years (range 2.1-19.4) following their index surgery. ALTR was encountered in every case and the modular head-neck junction demonstrated visible corrosion. An exchange of the CoCr head to a ceramic head with a titanium sleeve and placement of a constrained liner was performed for a majority of patients (n = 15, 88.2%). Five patients (29.4%) had complications postoperatively including peroneal palsy (n = 2), periprosthetic joint infection (n = 2), and ALTR recurrence (n = 1). ConclusionRecurrent instability in the setting of otherwise well-positioned THA components and without another obvious cause should raise concern for ALTR as a potential underlying etiology.

Proximal Resection of the Fibula in the Treatment of Proximal Fibular Chondrosarcoma

Introduction: Chondrosarcoma includes several anatomoclinical forms of tumors with cartilaginous histogenesis.It is a malignant tumor whose tumor cells are associated with a cartilage matrix.Case report: We present the case of a patient with stage 1 chondrosarcoma of the proximal part of the left fibula.The patient underwent a proximal fibula resection with a favorable outcome.Conclusion: Resection of tumors of the proximal fibula may cause knee instability, peroneal palsy through involvement of the external popliteal sciatic nerve or with local radiotherapy, a higher risk of delayed healing and the occurrence of fracture. Despite the risks of resection of the proximal fibula, good functional results can be obtained.

Repair of Peroneal Paralysis by Muscle Transposition in Sheep

Repair of Peroneal Paralysis by Muscle Transposition in Sheep

Functional outcome of limb salvage surgery in gaint cell tumour around knee with mega-endoprosthetic reconstruction

Introduction: Giant cell tumors (GCTs) represent 3-4% of all primary tumors of bone [1]. These tumour are locally aggressive and predominantly affect the ends of long bones (usually the distal femur and proximal tibia) in young adults. The ideal aim in the management of GCT is to eradicate the tumor without sacrificing the joint. Wide resection should be the treatment of choice, especially for situations such as recurrences, pathological fractures and tumors which are frankly malignant tumorAim: To determine the functional outcome and complications of mega endoprosthesis in treatment of gaint cell tumour around knee joinMaterials and Methods: Retrospective study conducted from 2010 to 2016 with age ranging from 16 to 30 years with follow up period- 48 months. All patient with primary GCTs around knee who had met with inclusion criteria underwent surgery. All patient underwent definitive wide local resection and Mega-endoprosthetic reconstruction, Functional outcome was scored by musculoskeletal tumour society scoring (MSTS). Complications related to surgery such as Infection, Aseptic loosening, Dislocation, Skin necrosis and Fractures were evaluated. The diagnosis was based on histopathological features noted on a core biopsy. Patients with a high-grade GCT were subjected to computed tomography of the chest and bone scan for metastatic evaluation.Results: The average MSTS functional score was 75% (Range- 60% to 100%), 4-year survival rate was 100% in our study. Average range of movements at 4 years was 80 (70-90). Among the 8 patients, 2 had complications related to surgery. One had infection which required intravenous antibiotics treatment but infections did not subsided so patient underwent allograft bone transplant with arthrodesis. One had foot drop secondary to common peroneal palsy, Six months post-surgery, he was able to walk with a single crutch and coped well with his foot drop. Conclusions: Wide resection and endoprosthetic replacement should be considered as a preferred treatment option in treatment of aggressive gaint cell tumour around knee joint. Mega-endoprosthetic reconstruction provides good functional outcome in patients with these kind of tumour and can be considered as treatment of choice if and when the limb can be salvageable.

Outcomes with microsurgery of common peroneal nerve lesions

The purpose of this retrospective study is to present our results with peroneal nerve lesions, to examine the relative significance of various factors, to assess their effect on outcome, and to establish guidelines of treatment for the microsurgical management of these difficult lesions. Over a 33-year period, a total of 62 patients were treated at McGill University and the Microsurgical Research Center, Eastern Virginia Medical School. The clinical records of all patients treated for peroneal nerve lesions were reviewed for retrospective analysis. Of 62 patients, 35 had microneurolysis and nerve decompression of the common peroneal nerve (CPn) as the only surgical procedure while 27 required reconstruction with nerve grafting. Postoperatively muscle power was graded from M + 4 to M - 5 in 27 patients, from M - 4 to M4 in 26 patients, from M - 3 to M + 3 in 8 patients, and from M - 2 to M + 2 in 1 patient. The behavioral video data showed a mean preoperative ankle dorsiflexion of 6.79°±5.6 and postoperative ankle dorsiflexion of 37.9°±9.3. Overall, excellent functional results were achieved in 27 of 62 patients (43%) with peroneal palsy who underwent microsurgical reconstruction, and good results were observed in 25 patients (40%). Despite previous widespread pessimism, the surgical repair of CPn lesion is worthwhile, yielding good to excellent results in the majority of patients, after a careful preoperative consultation, establishment of a sound strategy of reconstruction and using aggressive and atraumatic microsurgery.

Utility of intraoperative monitoring with motor-evoked potential during the surgical enucleation of peripheral nerve schwannoma.

Although it is thought that the surgical enucleation of schwannomas can be easily performed, certain patients present with postoperative neurological symptoms. The present study examined the utility of intraoperative motor-evoked potential (MEP) in predicting neurological deficits following the surgical enucleation of peripheral nerve schwannoma. The current study included 23 patients and MEP was performed using transcranial electrical stimulation. In three cases, the MEP decreased to <50% of the preoperative value; however, in two cases that involved the peroneal nerve and tibial nerve, results appeared to be false positives induced by a tourniquet during surgery. In another case, the MEP was completely lost following enucleation of the tumor from the sciatic nerve, which recovered to 61% of the original MEP within 10 min. This patient presented with common peroneal palsy postoperatively. By contrast, another case involving the lumbar nerve root and in which there was reversible postoperative motor loss, the MEP did not change intraoperatively. Postoperative neurological deficit occurred in 22% of patients in the present study, which is similar to that of previous reports. The present study also demonstrated that even if a nerve is not transected or injured, traction or compression of a peripheral nerve may induce ischemia, which can be monitored using MEP. Although MEP alone was not able to predict postoperative transient sensory or motor deficits, the combination of MEP with other methods of neurological monitoring may improve accuracy and should be investigated in future studies.

Fast-tracked Rehabilitation and Return to Sport of an Elite Rugby Player with a Complicated Posterolateral Corner Injury and Associated Peroneal Paralysis

Acute posterolateral corner injuries of the knee with associated hamstring avulsions and peroneal paralysis are rare in rugby. Regain of motor function following a complete paralysis is documented to be...

Peroneal palsy after bariatric surgery

The rise in popularity of bariatric surgery has been accompanied by a considerable increase in complications observed. Foot drop is a rare, but recognized complication after bariatric surgery. Early studies suggested the combination of rapid weight loss in the setting of postural compression of the nerve as main contributory factors. However, further research has also emphasized the role of postbariatric malnutrition and inflammation in the development of this neuropathy. The cause of this neuropathy is likely to be multifactorial, and understanding these mechanisms will assist multidisciplinary specialists in providing care to postbariatric patients suffering from this condition.

P194. Nerve sonography guided diagnosis of painful peroneal palsies caused by intraneural ganglia – A case series

Background Acute peroneal palsy is frequently caused by compression, trauma and surgery. Risk factors are weight loss, sitting with crossed legs, wrong positioning during surgery and diabetes mellitus. Focal demyelination is more frequent than axonal damage which in turn is related with an inferior prognosis. Rarely, acquired peroneal palsy is caused by intraneural ganglia. Methods We here report of three patients with untypical peroneal palsy caused by intraneural ganglia which were detected by nerve sonography (15 MHz Linear array transducer, GE Healthcare LOGIQ E9 Ultrasound). Results and conclusions A careful clinical history as well as a profound clinical and electrophysiological examination is required to disclose unusual findings. These are common in non-typical peroneal palsy. In this situation high resolution nerve sonography is a fast and sensitive method to detect intraneural ganglia. In contrast to the much more frequent “loco typico” lesion intraneural ganglia can be treated by microscopic nerve surgery as part of primary treatment strategy. Hence, detection of intraneural ganglia is meaningful for prognosis and guides therapy.

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a rare condition in childhood with a diverse range of clinical presentations. We analyzed the clinical presentation and electrophysiological data of 12 children with a confirmed PMP22 gene deletion and reviewed the published reports of HNPP in children and compared our data with the reports from the literature review. Peroneal palsy was the most common presentation (42%) followed by brachial plexus palsy in 25% of our cases. Nerve conduction studies were always suggestive of the diagnosis demonstrating 3 major patterns: multifocal demyelination at the area of entrapment, generalized sensory-motor polyneuropathy and a combination of the two first patterns in a vast majority (60%). Surprisingly, there was bilateral or unilateral electrophysiological entrapment of the median nerve at the carpal tunnel in all our patients. The clinical presentation of HNPP in childhood is heterogeneous and electrophysiological findings are helpful in establishing the diagnosis. Any unexplained mononeuropathy or multifocal neuropathy should lead to PMP22 gene testing to look for the deletion. Early diagnosis is important in order to facilitate appropriate genetic counseling and also for the appropriate care for these patients.

Hereditary neuropathy with liability to pressure palsies in childhood: case series and update from the literature

Introduction: HNPP presentation in childhood is rare and diverse and most of the published literature is based on case reports. Materials and Methods: we analyzed the data of 11 children with deletion in PMP22 gene, reviewed the published reports of HNPP in children and compared our data with the reports from the literature review. Results: Peroneal palsy was the most common presentation (50%) followed by the brachial plexus palsy in 30% of cases. The trigger of the demyelinating event was identified only in 27%. 72% of our cohort developed only one acute episode of nerve palsy. Nerve conduction studies were always suggestive of the diagnosis demonstrating 60% of cases a polyneuropathy, 50% of cases conduction block but 100% of bilateral or unilateral electrophysiologic entrapment of the median nerve at the carpal tunnel. Conclusion: The clinical presentation of HNPP in childhood is heterogeneous and EMG findings are abnormal. Any unexplained mononeuropathy or multifocal neuropathy should lead to PMP22 gene testing to look for the deletion. Early diagnosis is important for the genetic counselling but also for the appropriate care of these patients.