scholarly journals Facial Paresthesia, a Rare Manifestation of Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Lisa De Kock ◽  
Fréderic Van der Cruyssen ◽  
Leonore Gruijthuijsen ◽  
Constantinus Politis
Keyword(s):  
Peripheral Nerves ◽  
Case Reports ◽  
Cranial Nerves ◽  
Sensory Neuropathy ◽  
Rare Condition ◽  
Hereditary Neuropathy ◽  
Rare Manifestation ◽  
Facial Numbness ◽  
Pressure Palsies ◽  
Objective Tests

Trigeminal sensory neuropathy can be caused by a variety of conditions, including local, traumatic, iatrogenic, or systemic causes. Diagnosis and management remain a challenge for maxillofacial surgeons and neurologists. Therefore, a good clinical examination and objective tests and imaging are needed when diagnosing patients who present with facial numbness. We present a case with spontaneous episodes of facial paresthesia. He was diagnosed with hereditary neuropathy with liability to pressure palsies (HNPP), a rare condition that affects the peripheral nerves. Only a few case reports that describe involvement of the cranial nerves in patients with HNPP were found in the literature, and facial paresthesia has not been previously reported.

Hereditary Neuropathies: Update 2017

2017 ◽  
Vol 48 (04) ◽  
pp. 282-293 ◽  
Author(s):  
Michaela Auer-Grumbach ◽  
Jan Senderek ◽  
Sabine Rudnik-Schöneborn
Keyword(s):  
Comprehensive Evaluation ◽  
Sensory Neuropathy ◽  
Classification Systems ◽  
Disease Genes ◽  
Hereditary Neuropathy ◽  
Detection Rates ◽  
Hereditary Motor ◽  
Hereditary Neuropathies ◽  
Testing Algorithms ◽  
Pressure Palsies

AbstractHereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether close to 100 genes involved. Mutation detection rates vary considerably, reaching up to 80% in demyelinating CMT (CMT1) but are still as low as 10 to 30% in axonal CMT (CMT2), HMN, and HSAN. Based on current information, analysis of only four genes (PMP22, GJB1, MPZ, MFN2) identifies 80 to 90% of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and genetic testing algorithms in the different subgroups of hereditary neuropathies.

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

2015 ◽  
Vol 42 (S1) ◽  
pp. S15-S15
Author(s):  
N Chrestian ◽  
C Campbell ◽  
C Poulin ◽  
H McMillan ◽  
J Vajsar
Keyword(s):  
Clinical Presentation ◽  
Case Reports ◽  
Conduction Block ◽  
Case Series ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Gene Testing ◽  
Appropriate Care ◽  
Peroneal Palsy ◽  
Pressure Palsies

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.

Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms

2018 ◽  
Vol 8 (4) ◽  
pp. e95-e95
Author(s):  
Pedro Teixeira da Mota ◽  
Marta Maio ◽  
Rita Sapage ◽  
Carlos Branco ◽  
Carlos Pintado
Keyword(s):  
Rare Condition ◽  
Hereditary Neuropathy ◽  
Pressure Palsies

Central and Proximal Myelin Damage of Cranial Nerves in Hereditary Neuropathy with Liability to Pressure Palsies

2004 ◽  
Vol 35 (03) ◽  
Author(s):  
B Tackenberg ◽  
JC Moeller ◽  
H Rindock ◽  
I König ◽  
V Shiratori ◽  
...  
Keyword(s):  
Cranial Nerves ◽  
Hereditary Neuropathy ◽  
Pressure Palsies ◽  
Myelin Damage

scholarly journals Clinical, Electrophysiological and Molecular Features in Hereditary Neuropathy with Liability to Pressure Palsies

Sinapse ◽  
2020 ◽  
Vol 20 (4) ◽  
pp. 163-169
Author(s):  
Joana Afonso ◽  
◽  
Keyword(s):  
Nerve Conduction ◽  
Significant Proportion ◽  
Point Mutations ◽  
Sensory Neuropathy ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Genetic Studies ◽  
Molecular Features ◽  
Peripheral Nerve Involvement ◽  
Pressure Palsies

Introduction: Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant inherited peripheral neuropathy caused by deletions of the PMP22 gene (PMP22). It is classically characterized by episodes of repeated focal pressure neuropathies at common entrapment sites. Atypical forms are recognized and may occur in up to 56% of HNPP patients. The electrophysiological characteristics and the genetic studies are paramount for its diagnosis. We aim to describe clinical, electrophysiological and genetic features of a cohort of patients diagnosed with HNPP at a tertiary hospital. Methods: Retrospective study of patients with a confirmed diagnosis of HNPP, using descriptive statistics for their characterization. Results: Seventeen patients from 15 different families were included. Nine were males, and the overall mean age was 42.6 years-old. Age at first symptoms ranged from 3 to 46 years-old, with mean time until diagnosis of 9.3 years. Nine patients (53%) presented recurrent painless mononeuropathies or isolated focal compressive neuropathies, and eight patients (47%) had atypical presentation phenotypes, such as “Charcot-Marie-Tooth-like (CMT-like) and sensory neuropathy. Intra-familial clinical heterogeneity was observed. All patients showed nerve conduction slowing at common entrapment sites (median, ulnar and peroneal nerves), and signs of a more generalized peripheral nerve involvement were present in more than half of the patients. Fifteen patients carried the PMP22 gene deletion, and point mutations were present in two. Conclusion: Our cohort presents similar clinical characteristics to the literature description, with a significant proportion of patients with atypical presentations. The absence of clinical-electrophysiological correlation emphasise the importance of nerve conduction and genetic studies for the definite diagnosis of the disease.

Fournier's gangrene as Amyand's hernia complication

2019 ◽  
Vol 98 (7) ◽  
pp. 291-296
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Rare Condition ◽  
Sporadic Case ◽  
Fournier’S Gangrene ◽  
Amyand’S Hernia ◽  
Fournier's Gangrene ◽  
Randomized Controlled Studies ◽  
Based Medicine ◽  
Hernia Complication

Introduction: Fournier’s gangrene is a rare but fast deteriorating and serious condition with high mortality. In most cases, it is characterized as necrotizing fasciitis of the perineum and external genitals. Amyand’s hernia is a rare condition where the appendix is contained in the sac of an inguinal hernia. Inflammatory alterations in the appendix account only for 0.1 % of the cases when Amyand’s hernia is verified. Fournier’s gangrene as a complication of a late diagnosis of appendicitis located in the inguinal canal is described in the literature as rare case reports. Case report: The case report of a 70-year-old patient with Fournier’s gangrene resulting from gangrenous appendicitis of Amyand’s hernia. Conclusion: Fournier’s gangrene as a complication of Amyand’s hernia is a rare condition. Only sporadic case reports thereof can be found in the literature. Because of the rarity of this pathology and the lack of randomized controlled studies, it is difficult to determine the optimal treatment according to the principles of evidence-based medicine. An appropriate approach for this condition appears to be the combination of guidelines developed in Amyand’s therapy according to Losanoff and Basson, along with the recommended “gold standard” therapy for Fournier’s gangrene. This means early and highly radical surgical debridement, adequate antibiotic therapy and intensive care.

scholarly journals Fetus in fetu: two case reports from North African country

2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Moutaz Ragab ◽  
Omar Nagy Abdelhakeem ◽  
Omar Mansour ◽  
Mai Gad ◽  
Hesham Anwar Hussein
Keyword(s):  
Histopathological Examination ◽  
Case Reports ◽  
Abdominal Mass ◽  
Mature Teratoma ◽  
Surgical Techniques ◽  
Rare Condition ◽  
Mass Effect ◽  
Fetus In Fetu ◽  
Vascular Connection ◽  
First Case

Abstract Background Fetus in fetu is a rare congenital anomaly. The exact etiology is unclear; one of the mostly accepted theories is the occurrence of an embryological insult occurring in a diamniotic monochorionic twin leading to asymmetrical division of the blastocyst mass. Commonly, they present in the infancy with clinical picture related to their mass effect. About 80% of cases are in the abdomen retroperitoneally. Case presentation We present two cases of this rare condition. The first case was for a 10-year-old girl that presented with anemia and abdominal mass, while the second case was for a 4-month-old boy that was diagnosed antenatally by ultrasound. Both cases had vertebrae, recognizable fetal organs, and skin coverage. Both had a distinct sac. The second case had a vascular connection with the host arising from the superior mesenteric artery. Both cases were intra-abdominal and showed normal levels of alpha-fetoprotein. Histopathological examination revealed elements from the three germ layers without any evidence of immature cells ruling out teratoma as a differential diagnosis. Conclusions Owing to its rarity, fetus in fetu requires a high degree of suspicion and meticulous surgical techniques to avoid either injury of the adjacent vital structures or bleeding from the main blood supply connection to the host. It should be differentiated from mature teratoma.

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