scholarly journals Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-5
Author(s):  
Filipa Flor-de-Lima ◽  
Liliana Macedo ◽  
Ricardo Taipa ◽  
Manuel Melo-Pires ◽  
Maria Lurdes Rodrigues
Keyword(s):  
Histological Examination ◽  
Pediatric Population ◽  
Sensory Nerve ◽  
Foot Drop ◽  
First Episode ◽  
Hereditary Neuropathy ◽  
Minor Trauma ◽  
Motor Rehabilitation ◽  
Sensorimotor Polyneuropathy ◽  
Pressure Palsy

Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, “sausage-like” swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis.

scholarly journals Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion

2016 ◽  
Vol 74 (2) ◽  
pp. 99-105 ◽  
Author(s):  
Aline Pinheiro Martins de Oliveira ◽  
Raquel Campos Pereira ◽  
Patrícia Toscano Onofre ◽  
Vanessa Daccach Marques ◽  
Gilberto Brown de Andrade ◽  
...  
Keyword(s):  
Nerve Conduction Studies ◽  
Frequent Pattern ◽  
Hereditary Neuropathy ◽  
Brachial Plexopathy ◽  
Motor Neuropathy ◽  
Sensorimotor Polyneuropathy ◽  
Pressure Palsy ◽  
Pressure Palsies ◽  
Sensory Polyneuropathy ◽  
17P11.2 Deletion

ABSTRACT The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.

scholarly journals Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

2017 ◽  
Vol 43 (1) ◽  
Author(s):  
Carlo Fusco ◽  
Carlotta Spagnoli ◽  
Grazia Gabriella Salerno ◽  
Elena Pavlidis ◽  
Daniele Frattini ◽  
...  
Keyword(s):  
Point Mutation ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Pressure Palsy

scholarly journals Recurrent posterior elbow dislocation caused by congenital abnormalities in a 7-year-old child

2021 ◽  
Vol 9 (2) ◽  
pp. 211-219
Author(s):  
Yaroslav N. Proshchenko ◽  
Yulia A. Sigareva
Keyword(s):  
Surgical Treatment ◽  
Elbow Joint ◽  
Clinical Case ◽  
Neonatal Period ◽  
Clinical Manifestations ◽  
Elbow Dislocation ◽  
Primary Diagnosis ◽  
First Episode ◽  
Minor Trauma ◽  
Congenital Origin

BACKGROUND: Congenital posterior elbow dislocation in children is a rare and scarcely reported condition. Owing to the difficulties of an early primary diagnosis and the lack of a standardized management, we present a clinical case of an analysis of surgical treatment according to literature and based on our experience. CLINICAL CASE: We present a case of congenital posterior elbow dislocation in a 7-year-old child. In the absence of a universal algorithm for surgical treatment, we performed an arthrotomy for visual assessment of articular surfaces, intervention on the capsule and tendons of m. brachialis, m. biceps brachii, m. brachioradialis, and modeling of the proximal epiphysis of the right radius. DISCUSSION: We analyzed surgical treatment options and made an overview of the main stabilizers of the elbow joint that prevent elbow dislocations. There are few publications on this condition; to our knowledge, over the past 10 years, only two clinical cases of a similar pathology in children had been published. Not a single case of congenital elbow dislocation in the neonatal period has been described. We analyzed early clinical manifestations and possible causes of delayed primary diagnosis. CONCLUSIONS: Recurrent posterior elbow dislocation of the congenital origin is associated with a functional deficiency of elbow joint stabilizers. In the neonatal period, these abnormalities are usually not detected. The first episode of dislocation may be triggered by a minor trauma without damaging the bone structures. Delayed primary diagnosis may be associated with the paucity of clinical symptoms and compensatory functionality in children. The decision on surgical correction should be based on the analysis of structural anatomical changes in the assessment, of which magnetic resonance imaging plays an important role.

scholarly journals Immediate effects of using ankle-foot orthoses in the kinematics of gait and in the balance reactions in Charcot-Marie-Tooth disease

2014 ◽  
Vol 21 (1) ◽  
pp. 87-93
Author(s):  
Rouse Barbosa Pereira ◽  
Lílian Ramiro Felício ◽  
Arthur de Sá Ferreira ◽  
Sara Lúcia de Menezes ◽  
Marcos Raimundo Gomes de Freitas ◽  
...  
Keyword(s):  
Ankle Joint ◽  
Gait Cycle ◽  
Lower Limbs ◽  
Foot Drop ◽  
Hereditary Neuropathy ◽  
Significant Interaction Effect ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Wilks Lambda ◽  
Dynamic Gait Index

The Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy with progressive distal muscle atrophy and weakness, mainly in lower limbs, that evolves limiting the gait and balance. The objective of the study was to analyse the immediate effects of using Ankle-Foot Orthosis (AFO) in the gait's kinematics and balance in patients with CMT. Nine individuals were evaluated by Tinetti scales and Dynamic Gait Index (DGI) and gait's kinematics parameters through the motion capturing system. These evaluations were done before and during the use of AFO. Two-Way repeated analysis of variance was done to try the main or interaction effects related to "orthoses" and "repetition". A significant interaction effect was observed between the gait cycle and use the AFO to the average velocity (Wilks' Lambda=0.156, p=0.030, η2=0.844) like significant main effects in the ankle joint to the gait cycle (Wilks' Lambda=0.091, p=0.008, η2=0.909) and the use of AFO (Wilks' Lambda=0.444, p=0.013, η2=0.556). It was observed a significant change in the DGI scale during the use of AFO (p<0.05). The use of AFO promoted immediate effects on gait kinematics and in balance reactions. The results suggest that the use of AFO is an efficient strategy to stabilize the ankle joint, besides avoiding foot drop in patients with CMT.

scholarly journals Does Hereditary Neuropathy with Liability to Pressure Palsy Predispose to Schwannomatosis?

2014 ◽  
Vol 10 (4) ◽  
pp. 371 ◽  
Author(s):  
Aude-Marie Grapperon ◽  
Jérôme Franques ◽  
Pierre-Hugues Roche ◽  
Fabrice Battaglia
Keyword(s):  
Hereditary Neuropathy ◽  
Pressure Palsy

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

2014 ◽  
Vol 50 (6) ◽  
pp. 914-918 ◽  
Author(s):  
Anna Potulska-Chromik ◽  
Elena Sinkiewicz-Darol ◽  
Barbara Ryniewicz ◽  
Marta Lipowska ◽  
Dagmara Kabzińska ◽  
...  
Keyword(s):  
Early Onset ◽  
Hereditary Neuropathy ◽  
Pressure Palsy

Isolated cerebellar Rosai-Dorfman granuloma mimicking Lhermitte-Duclos disease

2009 ◽  
Vol 4 (2) ◽  
pp. 118-120 ◽  
Author(s):  
James M. Johnston ◽  
David D. Limbrick ◽  
Wilson Z. Ray ◽  
Stephanie Brown ◽  
Joshua Shimony ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Histological Examination ◽  
Pediatric Population ◽  
Cerebellar Lesion ◽  
Presumptive Diagnosis ◽  
Suboccipital Craniotomy ◽  
Rosai Dorfman Disease

Rosai-Dorfman disease (RDD) is an idiopathic histioproliferative disorder that rarely involves the CNS. Rosai-Dorfman disease is exceedingly rare in the pediatric population and has never been observed in the cerebellum of a child. The authors present the case of a 14-year-old male with a cerebellar lesion having radiographic characteristics of Lhermitte-Duclos disease. After a period of observation with a presumptive diagnosis of Lhermitte-Duclos disease, the child underwent suboccipital craniotomy and resection of the lesion due to continuous suboccipital headaches. Histological examination of the tissue demonstrated RDD. The published literature on RDD is reviewed with an emphasis on differential diagnosis.

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