Facial Paresthesia, a Rare Manifestation of Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report.
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ABSTRACT:
SUBMITTER: De Kock L
PROVIDER: S-EPMC8635109 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5?Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions of PMP22. Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had been diagnosed with HNPP in the first decade of life using molecular analysis.
| S-EPMC4258352 | biostudies-literature
Project description:RationaleHereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously. Electrophysiological features of HNPP has been found progressing with aging. Patient concerns: Here we present a 20-year-old man who exhibited lower extremity weakness and foot drop as the initial manifestation.DiagnosesHNPP was diagnosed on the basis of clinical features, positive sural nerve biopsy findings, and genetic testing results. Moreover, physical examination, blood/urine glucose test, and diabetes-related autoantibodies investigations demonstrated that he had psoriasis and T2DM. The electrophysiological manifestations revealed profound demyelinating injuries and axonal injuries in distal peripheral nerves and facial nerves, which were more severe than general HNPP cases.InterventionsThe young patient was treated with continuous subcutaneous insulin infusion and blood glucose monitoring, and then transferred to oral acarbose therapy. The psoriatic lesions were treated with calcipotriol ointment.OutcomesIn the follow-up, the right leg weakness was alleviated, and his gait was improved.LessonsThe findings indicate that diabetes mellitus may have an impact on the severity of HNPP. Physicians should consider that worsening of symptoms might result from newly diagnosed diabetes mellitus while treating patients with HNPP.
| S-EPMC5428644 | biostudies-literature
Project description:Peripheral myelin protein 22 (PMP22) is a component of compact myelin in the peripheral nervous system. The amount of PMP22 in myelin is tightly regulated, and PMP22 over or under-expression cause Charcot-Marie-Tooth 1A (CMT1A) and Hereditary Neuropathy with Pressure Palsies (HNPP). Despite the importance of PMP22, its function remains largely unknown. It was reported that PMP22 interacts with the ?4 subunit of the laminin receptor ?6?4 integrin, suggesting that ?6?4 integrin and laminins may contribute to the pathogenesis of CMT1A or HNPP. Here we asked if the lack of ?6?4 integrin in Schwann cells influences myelin stability in the HNPP mouse model. Our data indicate that PMP22 and ?4 integrin may not interact directly in myelinating Schwann cells, however, ablating ?4 integrin delays the formation of tomacula, a characteristic feature of HNPP. In contrast, ablation of integrin ?4 worsens nerve conduction velocities and non-compact myelin organization in HNPP animals. This study demonstrates that indirect interactions between an extracellular matrix receptor and a myelin protein influence the stability and function of myelinated fibers.
| S-EPMC5924464 | biostudies-literature
Project description:Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations.We report on a familial case harbouring a new point mutation in the PMP22 gene. The proband is a 4-years-old girl with acute onset of focal numbness and weakness in her right hand. Electroneurography demonstrated transient sensory and motor radial nerves involvement. In her father, reporting chronic symptoms (cramps and exercise-induced myalgia), we uncovered mild atrophy and areflexia on clinical examination and a mixed (predominantly demyelinating) polyneuropathy with sensory-motor involvement on electrophysiological study. Both carried a nucleotidic substitution c.178 + 2 T > C on intron 3 of the PMP22 gene, involving the splicing donor site, not reported on databases but predicted to be likely pathogenic.We described a previously unreported point mutation in PMP22 gene, which led to the development of a HNPP phenotype in a child and her father. In children evaluated for a sensory and motor transient episode, HNPP disorder due to PMP22 mutations should be suspected. Clinical and electrophysiological studies should be extended to all family members even in the absence of previous episodes suggestive for HNPP.
| S-EPMC5658948 | biostudies-literature
Project description:Hereditary sensory and autonomic neuropathy (HSAN) type V is a rare inherited disease caused by a mutation in the neurotrophic tyrosine kinase receptor, type 1 gene located on chromosome 1 (1q21-q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving the teeth, lips, tongue, ears, eyes, nose, and fingers are invariable feature of this disorder. The purpose of this paper was to discuss the diagnosis and oral management of 18-month-old girl with HSAN type V, having typical oral manifestation of bitten tongue and auto-extraction of primary teeth. Modified bite guard was given to the patient to prevent further self-mutilating injuries to the tongue.
| S-EPMC4319325 | biostudies-literature
Project description:BackgroundA chance observation of return of excellent facial movement, after 18 months following the first stage of cross-face nerve grafting, without free functional muscle transfer, in a case of long-standing facial palsy, lead the senior author (RBA) to further investigate clinically.Patients and methodsThis procedure, now christened as cross-face nerve extension and neurotization, was carried out in 12 patients of very long-standing facial palsy (mean 21 years) in years 1996-2011. The mean patient age and duration of palsy were 30.58 years and 21.08 years, respectively. In patients, 1-5 a single buccal or zygomatic branch served as a donor nerve, but subsequently, we used two donor nerves. The mean follow-up period was 20.75 months.ResultsSuccessive patients had excellent to good return of facial expression with two fair results. Besides improved smile, patients could largely retain air in the mouth without any escape and had improved mastication. No complications were encountered except synkinesis in 1 patient. No additional surgical procedures were performed.ConclusionThere is experimental evidence to suggest that neurotization of a completely denervated muscle can occur by the formation of new ectopic motor end plates. Long-standing denervated muscle fibres eventually atrophy severely but are capable of re-innervation and regeneration, as validated by electron microscopic studies. In spite of several suggestions in the literature to clinically validate functional recovery by direct neurotization, the concept remains anecdotal. Our results substantiate this procedure, and it has the potential to simplify reanimation in longstanding facial palsy. Our work now needs validation by other investigators in the field of restoring facial animation.
| S-EPMC4413486 | biostudies-literature
Project description:A new rare subtype of hereditary thrombophilia named antithrombin resistance. Antithrombin resistance is caused by mutations in the prothrombin gene (F2), located in the antithrombin binding region, which lead to the impaired thrombin inhibition by antithrombin and, therefore, thrombotic disorders due to the antithrombin resistance.
| PRJEB45990 | ENA
Project description:Leber's hereditary optic neuropathy (LHON) is due to missense point mutations affecting mitochondrial DNA (mtDNA); 90% of cases harbor the m.3460G>A, m.11778G>A, and m.14484T>C primary mutations. Here, we report and discuss five families with patients affected by symptomatic LHON, in which we found five novel mtDNA variants. Remarkably, these mtDNA variants are located in complex I genes, though without strong deleterious effect on respiration in cellular models: this finding is likely linked to the tissue specificity of LHON. This study observes that in the case of a strong clinical suspicion of LHON, it is recommended to analyze the whole mtDNA sequence, since new rare mtDNA pathogenic variants causing LHON are increasingly identified.
| S-EPMC8220086 | biostudies-literature
Project description:Pleural effusion as one of the most common manifestations of pulmonary diseases is a rare symptom of anterior mediastinal teratoma that might mislead general physicians. In this study we report a rare case of pleural effusion and anterior mediastinal teratoma accompanying each other. The patient was a 21-year-old woman who suffered from dyspnea, cough, fever and manifestations of pleural effusion were obvious in chest X Ray (CXR). Computed tomography scan showed a cystic mass with lipid component. After thoracotomy, a mass was taken out from medial lobe of right lung and the results of pathology showed the mature mediastinal teratoma. The patient remained well with no evidence of recurrence on follow-up CXRs 6 months after the surgery.
| S-EPMC5545821 | biostudies-other
Project description:BackgroundLeber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively in MT-ND4, MT-ND1 and MT-ND6 genes). However, the spectrum of mtDNA mutations causing the remaining 10% of cases is only partially and often poorly defined.Methodology/principal findingsIn order to improve such a list of pathological variants, we completely sequenced the mitochondrial genomes of suspected LHON patients from Italy, France and Germany, lacking the three primary common mutations. Phylogenetic and conservation analyses were performed. Sixteen mitochondrial genomes were found to harbor at least one of the following nine rare LHON pathogenic mutations in genes MT-ND1 (m.3700G>A/p.A132T, m.3733G>A-C/p.E143K-Q, m.4171C>A/p.L289M), MT-ND4L (m.10663T>C/p.V65A) and MT-ND6 (m.14459G>A/p.A72V, m.14495A>G/p.M64I, m.14482C>A/p.L60S, and m.14568C>T/p.G36S). Phylogenetic analyses revealed that these substitutions were due to independent events on different haplogroups, whereas interspecies comparisons showed that they affected conserved amino acid residues or domains in the ND subunit genes of complex I.Conclusions/significanceOur findings indicate that these nine substitutions are all primary LHON mutations. Therefore, despite their relative low frequency, they should be routinely tested for in all LHON patients lacking the three common mutations. Moreover, our sequence analysis confirms the major role of haplogroups J1c and J2b (over 35% in our probands versus 6% in the general population of Western Europe) and other putative synergistic mtDNA variants in LHON expression.
| S-EPMC3411744 | biostudies-literature