RESUMO
BACKGROUND: Maximum safe resection for eloquent areas glioblastomas (GBMs) is the greatest tumor resection achievable without causing neurological deficits. This study aims to assess, through quantitative volumetric analysis, the outcomes of patients with eloquent areas GBMs and correlate the extent of resection (EOR), based on MRI T1-contrast enhanced (CE) and T2- fluid-attenuated inversion recovery (FLAIR) sequences, with patient outcomes and overall survival. METHODS: We prospectively collected and analyzed patients with a diagnosis of primary GBM located in an eloquent area operated between January 2012 and April 2018. We examined 295 consecutive patients' records with GBM and identified 82 eloquent GBMs who met inclusion criteria. We stratified our patients by type of treatment-awake surgery (AS) and general anesthesia (GA) craniotomies. The kind of treatment was correlated with EOR, focusing on exeresis over the limit of the contrast-enhanced signal intensity, including both T1-CE and T2-FLAIR MRI signal alterations. RESULTS: The overall mean EOR value was higher in AS than in GA on T1-CE (P value: 0.010) and T2-Flair MRI images (P value: 0.007). Also, patients who had at least 30% of T2-FLAIR signal resection (EOR≥30%) had a significantly lower risk of death and recurrence (P value: 0.020), independent of residual T1-CE tumor volume. CONCLUSIONS: Extensive T2-Flair resection and AS improve overall survival and reduce risk of recurrence while simultaneously minimizing surgical and medical complications among patients with GBMs in eloquent areas.
Assuntos
Neoplasias Encefálicas , Glioblastoma , Humanos , Glioblastoma/cirurgia , Glioblastoma/patologia , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/patologia , Vigília , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Neoplasia Residual/patologiaRESUMO
Background: An 82-year-old right-handed man, a retired teacher, reported the occurrence, three years earlier, of difficulties in moving his left arm and foot, tremor in his left hand, and gestures of the left upper limb that appeared to be independent of the patient's will. Objective: We describe an unusual case of corticobasal syndrome (CBS) showing disease-associated biomarkers of dementia with Lewy bodies (DLB). Methods: Clinical, neuropsychological, imaging, and biomarker evaluations were conducted, including tau and amyloid-ß levels in the cerebrospinal fluid (CSF) and a RT-QuIC assay for α-synuclein both in the CSF and olfactory mucosa (OM), as well as a QEEG assessment. Results: The patient presented resting tremor, mild extrapyramidal hypertonus, mild bradykinesia on the left side, and severe apraxia on the left upper limb. Brain MRI showed a diffuse right hemisphere atrophy which was prominent in the posterior parietal and temporal cortices, and moderate in the frontal cortex and the precuneus area. 18F-FDG PET imaging showed reduced glucose metabolism in the right lateral parietal, temporal, and frontal cortices with involvement of the right precuneus. The putamen did not appear to be pathological at DaTQUANT. Neuropsychological tests showed memory and visual-perceptual deficits. CSF tau and amyloid measurements did not show clear pathological values. RT-QuIC for α-synuclein in CSF and OM samples were positive. The QEEG analysis showed a pre-alpha dominant frequency in posterior derivations, typical of early stages of DLB. Conclusion: Although in the present patient the clinical diagnosis was of probable CBS, unexpectedly positive biomarkers for DLB suggested the co-presence of multiple pathologies.
RESUMO
A gold-standard technique has yet to be found for the treatment of temporomandibular joint ankylosis (TMJa), particularly in patients with recurring ankylosis. A 58-year-old male patient, with a history of multiple TMJ surgeries and severe limitation of mouth opening (maximum interincisal distance [MID] was 10 mm). Computerised tomography (CT) imaging highlighted a bilateral type IV ankylosis. The surgical guides were manufactured using a 3D printing method after obtaining a proper design of the osteotomy lines. The positioning of the fossa and condyle components of the custom TMJ prosthesis was digitally performed. Osteotomies were carried out using surgical guides and TMJ prostheses were placed as per the virtual planning. A human amniotic mambrana is inserted between the two prosthetic components to avoid ranchylosis. The post-operative CT showed the correct positioning of the condylar prosthesis. MID after 10 days was 37 mm. Total joint reconstruction surgery using 3D virtual surgical planning may be an effective surgical option for achieving a precise surgical outcome and making use of a single-stage approach in cases of TMJa and the use of the amniotic membrane, thanks to its healing properties and reduction of pain perception, seems to improve the quality of the immediate post-operative period.
Assuntos
Anquilose , Cirurgia Assistida por Computador , Âmnio , Anquilose/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Próteses e Implantes , Articulação Temporomandibular/cirurgia , Transtornos da Articulação TemporomandibularRESUMO
"Mild cognitive impairment" (MCI) is a diagnosis characterised by deficits in episodic memory (aMCI) or in other non-memory domains (naMCI). Although the definition of subtypes is helpful in clinical classification, it provides little insight on the variability of neurofunctional mechanisms (i.e., resting-state brain networks) at the basis of symptoms. In particular, it is unknown whether the presence of a high load of white-matter hyperintensities (WMHs) has a comparable effect on these functional networks in aMCI and naMCI patients. This question was addressed in a cohort of 123 MCI patients who had completed an MRI protocol inclusive of T1-weighted, fluid-attenuated inversion recovery (FLAIR) and resting-state fMRI sequences. T1-weighted and FLAIR images were processed with the Lesion Segmentation Toolbox to quantify whole-brain WMH volumes. The CONN toolbox was used to preprocess all fMRI images and to run an independent component analysis for the identification of four large-scale haemodynamic networks of cognitive relevance (i.e., default-mode, salience, left frontoparietal, and right frontoparietal networks) and one control network (i.e., visual network). Patients were classified based on MCI subtype (i.e., aMCI vs. naMCI) and WMH burden (i.e., low vs. high). Maps of large-scale networks were then modelled as a function of the MCI subtype-by-WMH burden interaction. Beyond the main effects of MCI subtype and WMH burden, a significant interaction was found in the salience and left frontoparietal networks. Having a low WMH burden was significantly more associated with stronger salience-network connectivity in aMCI (than in naMCI) in the right insula, and with stronger left frontoparietal-network connectivity in the right frontoinsular cortex. Vice versa, having a low WMH burden was significantly more associated with left-frontoparietal network connectivity in naMCI (than in aMCI) in the left mediotemporal lobe. The association between WMH burden and strength of connectivity of resting-state functional networks differs between aMCI and naMCI patients. Although exploratory in nature, these findings indicate that clinical profiles reflect mechanistic interactions that may play a central role in the definition of diagnostic and prognostic statuses.
RESUMO
BACKGROUND: A 57-year-old right-handed man was admitted to the Treviso Memory Clinic due to the presence of memory forgetfulness, repetition of the same questions, episodes of confusion, initial difficulties in performing complex tasks and easy distraction over the past two years, as well as recurrent and never-happened-before car accidents. OBJECTIVE: We report a peculiar case of an early onset Alzheimer's disease (AD) with an unusual symptomatology, apparently not fitting in any of the categorized atypical forms of AD nor being representative of a typical amnestic AD. METHODS: The patient underwent a neuropsychological, structural, and metabolic cerebral evaluation by MRI and 18F-FDG PET, together with the search for cerebral amyloid (amyloid PET), a genetic testing for dementia related genes and the dosage of CSF protein biomarkers of neurodegenerative conditions. RESULTS: We observed a convergence of predominant frontal (dysexecutive, verbal disinhibition) and posterior (visuospatial) features of cognitive impairment. Structural MRI sequences showed subarachnoid spaces of the vault enlarged in the fronto-parietal region with anterior and posterior cortical atrophy. The hippocampus appeared preserved. The 18F-FDG PET scans showed hypometabolism in the prefrontal, lateral temporal, posterior parietal, and occipital regions bilaterally. The 18F-Flutemetamol scan showed a diffused uptake of the amyloid tracer at the cerebral cortex. CSF biomarkers were compatible with Alzheimer's disease (AD). CONCLUSION: This case report presented with clinical phenotypic aspects atypical of AD, both frontal and posterior, never described as concomitant in the most accredited criteria for atypical AD, and appeared therefore more atypical than each of the atypical AD phenotypes already reported.
RESUMO
INTRODUCTION: A dura mater substitute in decompressive craniectomies must protect the brain while providing a dissection plane between the cortex and myocutaneous layer. The human amniotic membrane (AM) has anti-inflammatory, wound healing, and differentiation properties. We tested AM properties as a dural substitute by comparing the outcomes to biological ones. METHODS: We prospectively collected data on 25 patients who randomly underwent decompressive craniectomy with lyophilized AM patches and 25 in which biological substitutes were utilized between 2015 and 2019. The AM was laid with the epithelial side facing the brain because of the anti-adhesive proprieties, while the chorion facing the myocutaneous flap. We collected data on demographics, neurological status, comorbidities, and surgical outcomes. Additionally, we created a score - dura mimicking score- and reviewed postoperative imaging and pathological specimens. RESULTS: The majority (96%) of AM grafts were integrated into native dura. Thirteen patients scored as excellent and 11 good on our "dura mimicking score", showing tissue integration ability but no cerebral cortex adhesion. The histopathological analysis showed that AM had thick plates of dense fibrous tissue with small reactive vessels, reactive fibroblasts, and lymphocytes infiltrate. The AM group's first outcomes were not different from the biological substitute patients but higher integration rate to the dura and less adhesion to the myocutaneous flap in AM patients. CONCLUSIONS: We documented the anti-adhesive, protective, and integrative properties of AM dural substitute patches in patients who underwent decompressive craniectomies, comparing the intraoperative differences and postoperative outcomes to biological dural substitutes.
Assuntos
Âmnio/cirurgia , Craniectomia Descompressiva/métodos , Dura-Máter/cirurgia , Complicações Pós-Operatórias/epidemiologia , Adulto , Encéfalo/cirurgia , Craniectomia Descompressiva/efeitos adversos , Humanos , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Aderências Teciduais/epidemiologia , Aderências Teciduais/etiologia , CicatrizaçãoRESUMO
BACKGROUND: Temporomandibular joint (TMJ) arthritis is a degenerative pathology that may cause pain and dysfunction. Nonsurgical therapy is the traditional treatment of TMJ diseases but if ineffective, TMJ surgery can be performed and may include arthroplasty with interposition of autograft. The encouraging results reported with the use of human amniotic membrane (HAM) in different surgical fields have highlighted its potential, but approaches providing the positioning of HAM within the intra-articular space of arthritic TMJs have never been investigated. CASE PRESENTATION: A 48-year-old woman was presented with limited mouth opening and pain with palpation at the left joint. A severe TMJ degeneration was diagnosed, and a surgical treatment was necessary. In the present case report, the authors describe the application of a cryopreserved HAM patch within the joint space as a disc-replacing film during major surgeries for discectomy and arthroplasty. Three months after the intervention, the patient reported an overall improvement in chewing efficiency as well as the absence of pain. CONCLUSIONS: According to the regenerative effects of HAM, the design of trials on the topic should be encouraged for its possible inclusion within the field of TMJ disease practice.
RESUMO
INTRODUCTION: Early prediction of a good outcome in comatose patients after cardiac arrest still remains an unsolved problem. The main aim of the present study was to examine the accuracy of middle-latency SSEP triggered by a painful electrical stimulation on median nerves to predict a favorable outcome. METHODS: No- and low-flow times, pupillary reflex, Glasgow motor score and biochemical data were evaluated at ICU admission. The following were considered within 72 h of cardiac arrest: highest creatinine value, hyperthermia occurrence, EEG, SSEP at low- (10 mA) and high-intensity (50 mA) stimulation, and blood pressure reactivity to 50 mA. Intensive care treatments were also considered. Data were compared to survival, consciousness recovery and 6-month CPC (Cerebral Performance Category). RESULTS: Pupillary reflex and EEG were statistically significant in predicting survival; the absence of blood pressure reactivity seems to predict brain death within 7 days of cardiac arrest. Middle- and short-latency SSEP were statistically significant in predicting consciousness recovery, and middle-latency SSEP was statistically significant in predicting 6-month CPC outcome. The prognostic capability of 50 mA middle-latency-SSEP was demonstrated to occur earlier than that of EEG reactivity. CONCLUSIONS: Neurophysiological evaluation constitutes the key to early information about the neurological prognostication of postanoxic coma. In particular, the presence of 50 mA middle-latency SSEP seems to be an early and reliable predictor of good neurological outcome, and its absence constitutes a marker of poor prognosis. Moreover, the absence 50 mA blood pressure reactivity seems to identify patients evolving towards the brain death.
Assuntos
Coma/diagnóstico , Potenciais Somatossensoriais Evocados/fisiologia , Parada Cardíaca/fisiopatologia , Dor/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores , Morte Encefálica/fisiopatologia , Coma/metabolismo , Feminino , Parada Cardíaca/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Análise de SobrevidaRESUMO
One important, yet relatively unexplored question is whether blindsight, i.e., unconscious visually guided behavior in hemianopic patients, is endowed with basic perceptual properties such as detecting stimulus numerosity and overall configuration. Rather than a forced-choice procedure in which patients are supposed to guess about stimuli presented to the blind hemifield, we used a redundant signal effect paradigm, i.e., the speeding of simple reaction time (RT) when presenting multiple versus single similar stimuli. The presence of an effect of numerosity for the (unseen) stimuli presented to the blind field was indirectly assessed by measuring RT to bilateral versus unilateral stimuli presented to the intact hemifield. Chronic hemianopic patients were tested with unilateral or bilateral black dots, both of which could be either single or quadruple. The latter could either have a fixed spatial configuration representing a diamond or be randomly spatially assembled on every trial. Both configurations covered the same extent of visual field and had the overall same luminance. We found that a numerosity effect as a result of increasing the number of stimuli in the blind field was indeed present but only with the diamond configuration. This is a convincing evidence that this form of blindsight does not depend upon stimulus numerosity per se but is likely to be related to the presence of structured and memorized rather than meaningless changing stimuli.
Assuntos
Cegueira/etiologia , Lateralidade Funcional/fisiologia , Hemianopsia/complicações , Campos Visuais/fisiologia , Percepção Visual/fisiologia , Adulto , Análise de Variância , Feminino , Hemianopsia/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estimulação Luminosa , Córtex Visual/patologia , Adulto JovemRESUMO
Blindsight, i.e., unconscious visually guided behaviour triggered by stimuli presented to a cortically blind hemifield, has been typically found either by using direct (forced choice) or indirect (interhemispheric) methods. However, one would expect to find blindsight also in fast responses to suddenly appearing visual stimuli, a reminiscence of evolutionary ancient adaptive behaviour. In this study we provide preliminary evidence of this form of blindsight by using a conservative method for assessing blindsight based on a comparison between the cumulative probability functions (CPFs) of simple reaction times to blind and intact field stimuli. Furthermore, in two patients with blindsight we provided evidence that their above-chance unconscious responses were likely to be triggered by the intact hemisphere.
Assuntos
Conscientização/fisiologia , Hemianopsia/fisiopatologia , Desempenho Psicomotor/fisiologia , Percepção Visual/fisiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Supratentorial ependymomas are rare, especially in the third ventricle. We report the case of an ependymoma of the posterior third ventricle that was endoscopically removed just by aspiration through a flexible scope. Histologically, beside the typical pattern of growth with perivascular pseudorosettes, the tumor featured hypercellular areas with more than 10 mitoses per 10 high-power fields, consistent with grade III-anaplastic tumor. A few months later, a second neuroendoscopy offered the unique chance to appreciate the total absence of tumor tissue and the restored anatomy. However, consistently with the high grade, the tumor recurred in two different locations including the endoscopic trajectory, and spread through the cerebrospinal fluid. The patient underwent a second resective surgery and radiosurgery. Despite a cycle of chemotherapy, multiple lesions both in the ventricular system and at the level of cauda equina appeared 12 months later. A comprehensive review of intraventricular anaplastic ependymomas is also provided.
Assuntos
Ventrículos Cerebrais , Ependimoma/patologia , Ependimoma/cirurgia , Adulto , Quimiorradioterapia Adjuvante , Ependimoma/diagnóstico , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/terapia , Procedimentos Neurocirúrgicos , Neoplasias Supratentoriais , Adulto JovemRESUMO
BACKGROUND: The role of folate and homocysteine in brain atrophy associated with Alzheimer's disease is not completely understood. OBJECTIVE: The aim of this study was to investigate the relationships between serum folate and homocysteine levels and the degree of cortical-subcortical and hippocampal atrophy in a first relatively preliminary sample of the Treviso Dementia (TREDEM) study using a potent data mining method. METHODS: Physiological data, biochemical parameters, clinical assessment data, brain atrophy severity assessed with CT scans, and neuropsycological and disability data were assessed in a group of 232 outpatients (93 men and 139 women, aged 40.2-100 years) enrolled in the TREDEM study carried out in Treviso (Italy). A semantic connectivity map obtained through the Auto-CM system, a fourth generation artificial neural network (ANN), was used to offer some insight regarding the complex biological connections between the studied variables and the degree of brain atrophy. RESULTS: Close associations between low serum folate levels and severe cortical-subcortical atrophy along with severe hippocampal atrophy measured by the width of the temporal horns of lateral ventricles were found. We also showed an association between high homocysteine levels and severe cortical-subcortical and hippocampal atrophy. CONCLUSION: The role of folate, which is inversely associated with the severity of brain atrophy, was confirmed. Our results also confirm the association between high homocysteine levels and severe cortical-subcortical and hippocampal atrophy. Auto-CM ANN is able to highlight associations sometimes visible only in longitudinal studies through intelligent data mining of a cross-sectional study.
Assuntos
Doença de Alzheimer/sangue , Doença de Alzheimer/patologia , Encéfalo/patologia , Ácido Fólico/sangue , Homocisteína/sangue , Adulto , Idoso , Idoso de 80 Anos ou mais , Atrofia , Mapeamento Encefálico , Avaliação da Deficiência , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Neuroimagem , Testes Neuropsicológicos , Pacientes Ambulatoriais , Estudos RetrospectivosRESUMO
ILLUSTRATIVE CASE: We describe the case of a 3-year-old child, diagnosed with familial neurofibromatosis type 1 (NF1) and asymptomatic optic pathway tumor at the age of two, who developed diencephalic syndrome (DS) due to tumor progression 1 year after diagnosis. Magnetic resonance imaging disclosed an enlarging hypothalamic contrast-enhanced mass. Because of the tumor progression, in terms of tumor volume and DS, chemotherapy (CT) treatment was started according to the international protocol for progressive low-grade glioma, with rapid clinical improvement in terms of gain weight and DS resolution. Interestingly, tumor volume was unchanged after CT. CONCLUSIONS: This case report highlights the following facts: (1) optic pathway glioma (OPG) in young children with NF1 may have definitive growth potentials and thus, they are worth an accurate clinical follow-up; (2) also, OPG occurring in NF1 patients can be responsible for DS in case of hypothalamus involvement; (3) consequently, the child's growth pattern must be included among the clinical parameters, which must be specifically evaluated during the follow-up of children, with or without NF1, bearing an OPG; and, finally, (4) that DS can improve after CT, even in face of a stable tumor volume.
Assuntos
Insuficiência de Crescimento/etiologia , Neurofibromatose 1/complicações , Glioma do Nervo Óptico/complicações , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Pré-Escolar , Progressão da Doença , Humanos , Neurofibromatose 1/tratamento farmacológico , Glioma do Nervo Óptico/tratamento farmacológico , Glioma do Nervo Óptico/patologiaRESUMO
This case series investigates whether painful electrical stimulation increases the early prognostic value of both somatosensory-evoked potentials and functional magnetic resonance imaging in comatose patients after cardiac arrest. Three single cases with hypoxic-ischemic encephalopathy were considered. A neurophysiological evaluation with an electroencephalogram and somatosensory-evoked potentials during increased electrical stimulation in both median nerves was performed within five days of cardiac arrest. Each patient also underwent a functional magnetic resonance imaging evaluation with the same neurophysiological protocol one month after cardiac arrest. One patient, who completely recovered, showed a middle latency component at a high intensity of stimulation and the activation of all brain areas involved in cerebral pain processing. One patient in a minimally conscious state only showed the cortical somatosensory response and the activation of the primary somatosensory cortex. The last patient, who was in a vegetative state, did not show primary somatosensory evoked potentials; only the activation of subcortical brain areas occurred. These preliminary findings suggest that the pain-related somatosensory evoked potentials performed to increase the prognosis of comatose patients after cardiac arrest are associated with regional brain activity showed by functional magnetic resonance imaging during median nerves electrical stimulation. More importantly, this cases report also suggests that somatosensory evoked potentials and functional magnetic resonance imaging during painful electrical stimulation may be sensitive and complementary methods to predict the neurological outcome in the acute phase of coma. Thus, pain-related somatosensory-evoked potentials may be a reliable and a cost-effective tool for planning the early diagnostic evaluation of comatose patients.
Assuntos
Encéfalo/fisiopatologia , Potenciais Somatossensoriais Evocados/fisiologia , Parada Cardíaca/diagnóstico , Hipóxia-Isquemia Encefálica/fisiopatologia , Imageamento por Ressonância Magnética/métodos , Dor/fisiopatologia , Recuperação de Função Fisiológica , Síndrome Coronariana Aguda/complicações , Idoso , Eletroencefalografia , Feminino , Seguimentos , Parada Cardíaca/etiologia , Parada Cardíaca/fisiopatologia , Humanos , Hipóxia-Isquemia Encefálica/complicações , Hipóxia-Isquemia Encefálica/diagnóstico , Masculino , Pessoa de Meia-Idade , Dor/diagnóstico , Dor/etiologia , Medição da Dor/métodosRESUMO
BACKGROUND: This study aims to assess the diagnostic value of multivoxel 2D chemical-shift imaging (CSI) proton magnetic resonance (MR) spectroscopy combined with perfusion magnetic resonance imaging (MRI) in the differential diagnosis and grading of brain tumors by comparing neuroimaging data with histopathological findings obtained after resection or biopsy. METHODS: A total of 159 patients with a previous brain tumor diagnosis underwent multivoxel 2D CSI proton MR spectroscopy and perfusion MRI. MR spectroscopy multivoxel 2D CSI was performed with an echo time of 30, TR 1,500, FOV 160 mm, acquisition time 7 min 34 s. rCBV maps were evaluated during postprocessing. Statistical analysis was performed on the examination of distributive normality, with logarithmic transformations, Fisher's test, and Bonferroni's test. We used the Pearson's test to compare percentages. RESULTS: In the differential diagnosis between GBM and metastases, MR spectroscopy multivoxel 2D CSI, combined with dynamic contrast enhanced MRI (DCE-MRI) perfusion, reached high sensibility and specificity (p < 0.000001). In brain tumor grading, the same method reached high sensibility and specificity (p < 0.000001) in distinguishing grade III-IV gliomas but encountered difficulty in determining grades within the two main groups of primary brain tumors, especially where mixed gliomas were involved. CONCLUSIONS: The systematic use of CSI spectroscopy and perfusion imaging has shown a high potential in the differential diagnosis and grading of brain tumors. Further exploration into diagnostic procedures that can significantly distinguish between grade III-IV and grade II tumors is needed.
Assuntos
Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/secundário , Angiografia por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/patologia , Feminino , Glioma/diagnóstico , Glioma/patologia , Glioma/secundário , Humanos , Processamento de Imagem Assistida por Computador/métodos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica/diagnóstico , Metástase Neoplásica/patologia , Valor Preditivo dos Testes , Estudos Prospectivos , Adulto JovemRESUMO
The Val102fs mutation of the myelin protein zero gene (MPZ) has been associated with Charcot-Marie-Tooth disease type 1B (CMT1B). Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. Two sisters aged 41 and 35 years complained of neck pain and presented only pes cavus or deep-tendon hyporeflexia. In both of them magnetic resonance imaging revealed non-enhancing hypertrophy of spinal roots misdiagnosed as neurofibromatosis; neurophysiology disclosed a demyelinating neuropathy and addressed the correct molecular diagnosis. This report adds new data concerning the clinical presentations of MPZ mutations.