Case Of Hereditary Neuropathy Research Articles

An Uncommon Disease with a Common Presentation: Severe Back pain and Diffuse Neuropathy in Two Cases of Hereditary Neuropathy with Liability to Pressure Palsy

Introduction: Hereditary Neuropathy with liability to Pressure Palsy (HNPP) is an autosomal dominant genetic disorder characterized by multiple episodes of focal weakness and sensory loss caused by compression or trauma. HNPP is rare disorder and often exhibits cranial nerve involvement, sensorineural deafness and scoliosis. Individuals diagnosed with this condition typically exhibit a primary deficit of a single nerve palsy that can result in numbness, paresthesias, or weakness. Case Presentation: Two unrelated individuals with HNPP were evaluated with clinical, laboratory, electrophysiological and genetic testing. Case 1 was a 32-year-old man who presented with an episode of transient right arm weakness and severe back pain. Case 2 was a 46-year-old woman who presented with severe back pain and diffuse paresthesias, which was diagnosed as HNPP. Discussion: These cases present common symptoms that are uncommon for the typical HNPP patient. This report serves to contribute new information to the body of evidence describing HNPP. Conclusion: Although HNPP typically presents with transient compressive mononeuropathies, this study suggests that HNPP can present with various broad clinical presentations, including severe back pain. Neurologists need to broaden their spectrum of clinical presentations to help diagnose these rare conditions.

Detection of duplication of PMP22 gene by fluorescent in situ hybridization (fish) in Charcot Marie tooth type 1 in public hospital of south of Chile

The genotypic diagnosis in CMT is a public health need. In our country, a genetic study is carried out in a single laboratory (INTA) with restricting of access to public patients. To determine presence of duplication of the PMP22 gene in patients with CMT1 by FISH of the Neurology Unit of the Hospital Regional de Concepcion. CMT1 it is produced by a duplication of 1.5mb on chromosome 17p11.2detectable by FISH and correlated with "classic" phenotype (onset development of symptoms in the first 2 decades, slow and progressive course, characteristic orthopedically alterations and decrease in the speed of nerve conduction of arms 16 patients are included M38% F62% with average age 38(16–63), clinically grouped i 4 CLASSIC PENOTHYPE OF CMT1, 7 other HEREDITARY NEUROPATHIES and 5 DEMYELINATING NEUROPATHIES ACQUIRED In FISH assay, presence of more than 40% nuclei with 3 signals of the PMP22 gene and 2 corresponding to the centromere of chromosome 17 was considered positive. We found 4 positive cases, 3 in CMT1 group and 1 in OTHER HEREDITARY NEUROPATHIES (case of Hereditary neuropathy with Liability to pressure palsies and none in DEMYELINATING NEUROPATHIES ACQUIRED Three counter samples (1Positive/2Negative) were analyzed in INTA using MLPA and FISH having concordance in everyone case. Technique of FISH is reliable in the detection of the duplication responsible for CMT1 and increasing the number of cases it is feasible to validate the method in our place and implement this genetic diagnosis in our public care system.

Elderly‐onset case of hereditary neuropathy with liability to pressure palsies: A case report

AbstractHereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder with a feature of repeated focal pressure neuropathies. The first symptomatic episode usually occurs in the second or third decade of life. We here report a case of 88‐year‐old patient who had recurrent episodes of foot drop since she was 68 years old. Elderly‐onset HNPP is a rare condition that may be misdiagnosed as stroke. Physicians should consider HNPP when seeing repeat entrapment neuropathies regardless of patient's age.

Corrigendum

Diabetic MedicineVolume 34, Issue 7 p. 1014-1014 CorrigendumFree Access Corrigendum This article corrects the following: Clinical care and other categories posters: case reports Volume 34Issue S1Diabetic Medicine pages: 94-103 First Published online: March 8, 2017 First published: 18 June 2017 https://doi.org/10.1111/dme.13373AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat The author name E Miller was listed incorrectly as E Williams in the poster P220 by Maltese et al., as published on page 99 of Diabetic Medicine Volume 34 Supplement 1. Therefore the correct author list is: G Maltese, E Miller, A Brackenridge and S Thomas. Reference 1Maltese G, Williams E, Brackenridge A, Thomas S. A case of hereditary neuropathy with liability to pressure palsy in a patient with Type 1 diabetes. Diabet Med 2017; 34(Suppl. 1): 99, P220. Volume34, Issue7Special Issue on Diabetes EpidemiologyJuly 2017Pages 1014-1014 ReferencesRelatedInformation

Unusual manifestations of Charcot-Marie-Tooth disease: A clinical observation

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuromuscular disorder. Careful assessment of clinical presentations, mode of inheritance, electrophysiological studies, and genetic analysis form the basis for the diagnosis of CMT. CMT4 is a group of progressive motor and sensory axonal demyelinating neuropathies. It is distinguished from other forms of CMT by autosomal recessive pattern of inheritance, variable clinical manifestations, electrophysiological study, nerve biopsy, and specific genetic studies. Here, we report an interesting case of hereditary neuropathy with recessive inheritance pattern who presented with combined clinical phenotypes of 4B1, 4C, and 4D subtypes. The histopathological study revealed onion bulb appearance suggestive of demyelination and remyelination phenomenon. The overlapping clinical manifestation may create a diagnostic challenge which would be confirmed by specific molecular analysis.

An unusual presentation of hereditary neuropathy with liability to pressure palsies in a neonate

<h3>Aims</h3> To describe two cases of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). To the best of our knowledge one of these is the first reported case of brachial plexus palsy in a neonate with HNPP. <h3>Methods</h3> 2 Case reports. <h3>Results</h3> The first case initially presented following Ventouse delivery at term with flexion deformities of both wrists felt to represent bilateral Klumpke9s palsy. At day 6 the right side was normal but the left hand remained flexed with no active extension and the thumb was held in the palm. However, by 3 weeks she moved both hands freely. At 12 years she re-presented with gradual onset left foot drop and sensory loss in L5/S1. This resolved over 2 months but then similar symptoms developed in the right foot. She also complained of intermittent pins and needles along the ulnar border of both hands. Electrophysiology revealed a patchy demyelinating neuropathy with an emphasis on the points of usual compression. Genetic tests showed a 17p11.2 deletion and HNPP was diagnosed. The second girl presented at 12 years with numbness along the ulnar distribution of the left hand followed by clawing. She has never had any other neuropathies although there was a paternal family history of nerve palsies. As above, electrophysiology was typical of HNPP and there was a 17.p11.2 deletion. However, unusually for HNPP, the claw hand has persisted for 3 years although electrophysiology has returned to normal and therefore there is felt to be a functional element. <h3>Conclusions</h3> HNPP is an autosomal dominant condition characterised by recurrent demyelinating mononeuropathies following minor trauma or compression. It typically presents with painless sensory and/or motor mononeuropathy during the 2nd to 3rd decade, most commonly affecting the peroneal or ulnar nerves. It causes reduced nerve conduction velocities and is associated with the peripheral myelin protein 22 gene. There is normally complete recovery. This diagnosis should be considered in cases of repeated focal neuropathies and we suggest it should also be considered in neonates with unusual nerve palsies at birth.

Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve

We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosome 17p11.2-p12 (PMP22 gene duplication). A schwannoma is a benign encapsulated tumor originating from a Schwann cell. A case of hereditary neuropathy with liability to pressure palsies (HNPP) concurrent with schwannoma has been previously reported. Although it seems that the co-occurrence of CMT1A and schwannomas in a family would be the result of independent events, we could not completely ignore the possibility that the coincidence of two diseases might be due to a shared genetic background.

Peripheral Nerve Biopsy Study in 19 Cases with 17p11.2 Deletion

In most cases of hereditary neuropathy with liability to pressure palsy (HNPP) the diagnosis is now assessed by molecular detection of 17p11.2 deletion. However, the family history may be missing and the clinical presentation is not always informative. In such cases, a peripheral nerve biopsy showing the characteristic focal myelin sheath thickening ("tomaculae") may be helpful. We present a retrospective study of peripheral nerve biopsies performed in 19 patients suffering from either a mononeuropathy or a generalized sensory-motor polyneuropathy, and for whom the finding of tomaculae led to a search for 17p11.2 deletion, which was confirmed secondarily. Tomaculae and other coexisting neuropathological lesions such as uncompacted myelin, "onion bulb" formations, and axonal degeneration are described and discussed in the view of previously reported data. It appears that demyelinating lesions with tomaculae are strongly suggestive of HNPP but are not specific as they may be observed in other conditions. Moreover, these features may be overlooked if axonal degeneration is marked.