ABSTRACT
Intraneural perineurioma (IP) is an under-recognized hypertrophic peripheral nerve tumor. It affects young patients involving frequently the sciatic nerve and its branches and presents with a progressive, painless and predominantly motor deficit. Magnetic resonance neurography (MRN) is a useful tool to localize the lesion, evaluate its extension, and discriminate between different etiologies. We reviewed the clinical records of 11 patients with pathologically confirm IP. Eight patients were males with mean age 19 years. Initial complains were unilateral steppage (seven patients), bilateral steppage (one patient), unilateral gastrocnemius wasting (one patient), unilateral thigh atrophy (one patient), and unilateral hand weakness (one patient). Nine patients had mild painless sensory loss. Examinations revealed involvement of sciatic nerve extending into the peroneal nerve (eight patients), posterior tibial nerve (one patient), radial nerve (one patient), and femoral nerve (one patient). MRN revealed enlargement of the affected nerve isointense on T1-weighted, hyperintense on T2 fat-saturated images, and with avid enhancement on post-contrast imaging. In all patients, a nerve biopsy confirmed the diagnosis. MRN allows early and non-invasive identification of this tumor and is a key tool providing localization and differential diagnosis in patients with slowly progressive focal neuropathies.
Subject(s)
Magnetic Resonance Imaging/methods , Nerve Sheath Neoplasms/diagnostic imaging , Peripheral Nervous System Neoplasms/diagnostic imaging , Adolescent , Adult , Child , Female , Humans , Male , Retrospective Studies , Young AdultABSTRACT
Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular symptoms, and assess neurophysiological involvement of the VIII cranial nerve, correlating these findings with clinical and neurophysiological features of peripheral neuropathy. We studied 36 patients with FD with a complete neurological and neuro-otological evaluation including nerve conduction studies, quantitative sensory testing (to evaluate small fiber by warm and cold threshold detection and cold and heat pain), vestibular evoked myogenic potentials, videonistagmography, audiometry and brainstem auditory evoked potentials. Neuro-otologic symptoms included hearing loss (22.2%), vertigo (27.8%) or both (25%). An involvement of either cochlear or vestibular function was identified in most patients (75%). In 70% of our patients the involvement of both cochlear and vestibular function could not be explained by a neural or vascular mechanism. Small fiber neuropathy was identified in 77.7%. There were no significant associations between neuro-otological and QST abnormalities. Neuro-otologic involvement is frequent and most likely under-recognized in patients with FD. It lacks a specific neural or vascular pattern, suggesting multi-systemic, end organ damage. Small fiber neuropathy is an earlier manifestation of FD, but there is no correlation between the development of neuropathy and neuro-otological abnormalities.
ABSTRACT
Sensory neuronopathies or ganglionopathies, or dorsal root ganglion disorders, represent a subgroup of peripheral nervous system diseases, frequently associated with dysinmune or neoplastic disorders and with toxic agents. A degeneration of both central and peripheral sensory proyections is present. Patients typically show early ataxia, loss of deep tendon reflexes and positive sensory symptoms present both in proximal and distal sites of the body. We retrospectively studied 10 cases with a final diagnosis of sensory neuronopathy. Sensory neuropathy was the presenting symptom and the course was subacute in all cases. Paresthesias in upper limbs were a predominant manifestation (100%). Other manifestations included: hypoesthesia (10/10), gait ataxia (8/10), autonomic symptoms (3/10) and perioral paresthesias (3/10). Electrophysiology showed sensory axonal neuronal pattern, with normal motor responses. Final diagnosis was acquired sensory neuronopathy in all patients, associated with Sjögren's syndrome in 2, with lupus erythematosus in 1, with rheumatoid arthritis in 1, with a cancer in 2 (paraneoplastic) and idiopathic in 4. In paraneoplastic cases, the tumor was small cell lung cancer in 1 (with positive anti-Hu antibodies), and epidermoid lung cancer in the other. Eight patients were treated with immunotherapy, high dose intravenous methylprednisolone and/or intravenous immunoglobulin; with poor response in 4 cases, neurologic improvement in 5, and without any change in 1 patient. The present work shows the typical clinical and electrophysiological pattern of subacute sensory neuronopathy, and the relevance of early treatment.
Subject(s)
Ataxia/diagnosis , Ataxia/drug therapy , Carcinoma, Squamous Cell/complications , Lung Neoplasms/complications , Small Cell Lung Carcinoma/complications , Time-to-Treatment , Adult , Aged , Aged, 80 and over , Anti-Inflammatory Agents/therapeutic use , Arthritis, Rheumatoid/complications , Ataxia/complications , Fatal Outcome , Female , Gait Ataxia/diagnosis , Gait Ataxia/drug therapy , Humans , Immunoglobulins, Intravenous/therapeutic use , Immunologic Factors/therapeutic use , Lupus Erythematosus, Systemic/complications , Male , Methylprednisolone/therapeutic use , Middle Aged , Paresthesia/diagnosis , Paresthesia/drug therapy , Retrospective Studies , Sjogren's Syndrome/complicationsABSTRACT
Las neuronopatías o ganglionopatías sensitivas, o enfermedades del ganglio dorsal, representan un subgrupo de enfermedades del sistema nervioso periférico, frecuentemente asociadas a trastornos disinmunes o paraneoplásicos, y a agentes tóxicos. Los pacientes típicamente presentan ataxia temprana, pérdida de los reflejos osteotendinosos y síntomas sensitivos positivos, presentes tanto en partes proximales como distales del cuerpo. Estudiamos retrospectivamente 10 casos con un diagnóstico final de neuronopatía sensitiva. El síntoma de presentación fue el de una neuropatía sensitiva de curso subagudo en todos los casos, con parestesias en el 100% de los casos. Otras manifestaciones fueron: hipoestesia (10/10), ataxia de la marcha (8/10), síntomas autonómicos (3/10) y parestesias periorales (3/10). La electrofisiología mostró un patrón de compromiso sensitivo axonal, con respuestas motoras normales. El diagnóstico final fue neuronopatía sensitiva adquirida en todos, asociada a síndrome de Sjögren en dos, a lupus eritematoso en uno, a artritis reumatoidea en uno, a cáncer en dos (paraneoplásica) e idiopática en cuatro. En los casos paraneoplásicos, los tumores fueron un carcinoma de pulmón de células pequeñas (con anticuerpos anti-Hu positivos) y un carcinoma epidermoide de pulmón. Ocho pacientes fueron tratados con inmunoterapia, con altas dosis de metilprednisolona endovenosa y/o con inmunoglobulina endovenosa; con pobre respuesta en cuatro casos, mejoría neurológica en cinco, y sin cambios en uno. El presente trabajo muestra el patrón clinico y electrofisiológico de las neuronopatías sensitivas subagudas, y la relevancia de un tratamiento temprano.
Sensory neuronopathies or ganglionopathies, or dorsal root ganglion disorders, represent a subgroup of peripheral nervous system diseases, frequently associated with dysinmune or neoplastic disorders and with toxic agents. A degeneration of both central and peripheral sensory proyections is present. Patients typically show early ataxia, loss of deep tendon reflexes and positive sensory symptoms present both in proximal and distal sites of the body. We retrospectively studied 10 cases with a final diagnosis of sensory neuronopathy. Sensory neuropathy was the presenting symptom and the course was subacute in all cases. Paresthesias in upper limbs were a predominant manifestation (100%). Other manifestations included: hypoesthesia (10/10), gait ataxia (8/10), autonomic symptoms (3/10) and perioral paresthesias (3/10). Electrophysiology showed sensory axonal neuronal pattern, with normal motor responses. Final diagnosis was acquired sensory neuronopathy in all patients, associated with Sjögren’s syndrome in 2, with lupus erythematosus in 1, with rheumatoid arthritis in 1, with a cancer in 2 (paraneoplastic) and idiopathic in 4. In paraneoplastic cases, the tumor was small cell lung cancer in 1 (with positive anti-Hu antibodies), and epidermoid lung cancer in the other. Eight patients were treated with immunotherapy, high dose intravenous methylprednisolone and/or intravenous immunoglobulin; with poor response in 4 cases, neurologic improvement in 5, and without any change in 1 patient. The present work shows the typical clinical and electrophysiological pattern of subacute sensory neuronopathy, and the relevance of early treatment.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Ataxia/diagnosis , Ataxia/drug therapy , Carcinoma, Squamous Cell/complications , Small Cell Lung Carcinoma/complications , Lung Neoplasms/complications , Paresthesia/diagnosis , Arthritis, Rheumatoid/complications , Ataxia/complications , Sjogren's Syndrome/complications , Immunoglobulins, Intravenous/therapeutic use , Fatal Outcome , Gait Ataxia/diagnosis , Gait Ataxia/drug therapy , Anti-Inflammatory Agents/therapeutic useABSTRACT
Chronic inflammatory sensory polyradiculopathy is a defined entity, frequently underdiagnosed, and potentially treatable. It must be suspected in patients with sensory ataxia, normal nerve conduction studies, and MRI with thickened lumbosacral nerve roots and gadolinium enhancement. We present the case of a 57-year-old man with marked sensory ataxia on his left leg. Examination showed normal strength, decreased knee and ankle jerks. Light touch and pinprick sensations were reduced below the knees. Vibration and joint position sense were absent at the feet. Nerve conduction studies were normal. Tibial sensory evoked potentials disclosed absent responses bilaterally. CSF was acellular with elevated protein. Lumbosacral magnetic resonance showed thickening of roots, with gadolinium enhancement. The patient was treated with IV-Ig, 2 g/kg, for 5 days with improvement of symptoms. The clinical course, elevated CSF protein, the evidence of root enhancement on the MRI, good response to immunotherapy, and the exclusion of other causes of sensory ataxia, were compatible with the diagnosis of chronic inflammatory sensory polyradiculopathy. To diagnose this disease the identification of isolated involvement of the sensory roots is required.
Subject(s)
Gadolinium , Neural Conduction/physiology , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis , Electromyography , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/cerebrospinal fluid , Spinal Nerve Roots/pathologyABSTRACT
La polirradiculopatía inflamatoria crónica sensitiva es una entidad definida, frecuentemente subdiagnosticada y potencialmente tratable. Debe ser sospechada en pacientes con ataxia sensitiva, estudios de conducción nerviosa normales y una resonancia magnética que muestre engrosamiento y realce con gadolinio de las raíces lumbosacras. Presentamos el caso de un hombre de 57 años de edad con marcada ataxia sensitiva en pierna izquierda. Al examen físico presentaba fuerza conservada, reflejos osteotendinosos disminuidos, tacto fino y superficial reducidos por debajo de las rodillas; abatiestesia y apalestesia en ambos pies. Los estudios de conducción nerviosa eran normales, los potenciales evocados somatosensitivos tibiales con ausencia de respuesta bilateral. El líquido cefalorraquídeo presentaba hiperproteinorraquia sin células. La resonancia magnética mostró engrosamiento y realce con gadolinio de las raíces lumbosacras. El paciente fue tratado con inmunoglobulina endovenosa (IgEV) a 2 g/kg durante 5 días, con buena respuesta. La evolución clínica, la hiperproteinorraquia, el realce de raíces en la resonancia magnética, la buena respuesta a la inmunoterapia y la exclusión de otras causas de ataxia sensitiva fueron compatibles con el diagnóstico de polirradiculopatía inflamatoria crónica sensitiva. Para el diagnóstico de esta enfermedad se requiere la identificación del compromiso aislado de las raíces sensitivas.(AU)
Chronic inflammatory sensory polyradiculopathy is a defined entity, frequently underdiagnosed, and potentially treatable. It must be suspected in patients with sensory ataxia, normal nerve conduction studies, and MRI with thickened lumbosacral nerve roots and gadolinium enhancement. We present the case of a 57-year-old man with marked sensory ataxia on his left leg. Examination showed normal strength, decreased knee and ankle jerks. Light touch and pinprick sensations were reduced below the knees. Vibration and joint position sense were absent at the feet. Nerve conduction studies were normal. Tibial sensory evoked potentials disclosed absent responses bilaterally. CSF was acellular with elevated protein. Lumbosacral magnetic resonance showed thickening of roots, with gadolinium enhancement. The patient was treated with IV-Ig, 2 g/kg, for 5 days with improvement of symptoms. The clinical course, elevated CSF protein, the evidence of root enhancement on the MRI, good response to immunotherapy, and the exclusion of other causes of sensory ataxia, were compatible with the diagnosis of chronic inflammatory sensory polyradiculopathy. To diagnose this disease the identification of isolated involvement of the sensory roots is required.(AU)
Subject(s)
Humans , Male , Middle Aged , Gadolinium/diagnosis , Neural Conduction/physiology , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis , Electromyography , Magnetic Resonance Imaging , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/cerebrospinal fluid , Spinal Nerve Roots/pathologyABSTRACT
La polirradiculopatía inflamatoria crónica sensitiva es una entidad definida, frecuentemente subdiagnosticada y potencialmente tratable. Debe ser sospechada en pacientes con ataxia sensitiva, estudios de conducción nerviosa normales y una resonancia magnética que muestre engrosamiento y realce con gadolinio de las raíces lumbosacras. Presentamos el caso de un hombre de 57 años de edad con marcada ataxia sensitiva en pierna izquierda. Al examen físico presentaba fuerza conservada, reflejos osteotendinosos disminuidos, tacto fino y superficial reducidos por debajo de las rodillas; abatiestesia y apalestesia en ambos pies. Los estudios de conducción nerviosa eran normales, los potenciales evocados somatosensitivos tibiales con ausencia de respuesta bilateral. El líquido cefalorraquídeo presentaba hiperproteinorraquia sin células. La resonancia magnética mostró engrosamiento y realce con gadolinio de las raíces lumbosacras. El paciente fue tratado con inmunoglobulina endovenosa (IgEV) a 2 g/kg durante 5 días, con buena respuesta. La evolución clínica, la hiperproteinorraquia, el realce de raíces en la resonancia magnética, la buena respuesta a la inmunoterapia y la exclusión de otras causas de ataxia sensitiva fueron compatibles con el diagnóstico de polirradiculopatía inflamatoria crónica sensitiva. Para el diagnóstico de esta enfermedad se requiere la identificación del compromiso aislado de las raíces sensitivas.
Chronic inflammatory sensory polyradiculopathy is a defined entity, frequently underdiagnosed, and potentially treatable. It must be suspected in patients with sensory ataxia, normal nerve conduction studies, and MRI with thickened lumbosacral nerve roots and gadolinium enhancement. We present the case of a 57-year-old man with marked sensory ataxia on his left leg. Examination showed normal strength, decreased knee and ankle jerks. Light touch and pinprick sensations were reduced below the knees. Vibration and joint position sense were absent at the feet. Nerve conduction studies were normal. Tibial sensory evoked potentials disclosed absent responses bilaterally. CSF was acellular with elevated protein. Lumbosacral magnetic resonance showed thickening of roots, with gadolinium enhancement. The patient was treated with IV-Ig, 2 g/kg, for 5 days with improvement of symptoms. The clinical course, elevated CSF protein, the evidence of root enhancement on the MRI, good response to immunotherapy, and the exclusion of other causes of sensory ataxia, were compatible with the diagnosis of chronic inflammatory sensory polyradiculopathy. To diagnose this disease the identification of isolated involvement of the sensory roots is required.
Subject(s)
Humans , Male , Middle Aged , Gadolinium , Neural Conduction/physiology , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis , Electromyography , Magnetic Resonance Imaging , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/cerebrospinal fluid , Spinal Nerve Roots/pathologyABSTRACT
Chronic inflammatory sensory polyradiculopathy is a defined entity, frequently underdiagnosed, and potentially treatable. It must be suspected in patients with sensory ataxia, normal nerve conduction studies, and MRI with thickened lumbosacral nerve roots and gadolinium enhancement. We present the case of a 57-year-old man with marked sensory ataxia on his left leg. Examination showed normal strength, decreased knee and ankle jerks. Light touch and pinprick sensations were reduced below the knees. Vibration and joint position sense were absent at the feet. Nerve conduction studies were normal. Tibial sensory evoked potentials disclosed absent responses bilaterally. CSF was acellular with elevated protein. Lumbosacral magnetic resonance showed thickening of roots, with gadolinium enhancement. The patient was treated with IV-Ig, 2 g/kg, for 5 days with improvement of symptoms. The clinical course, elevated CSF protein, the evidence of root enhancement on the MRI, good response to immunotherapy, and the exclusion of other causes of sensory ataxia, were compatible with the diagnosis of chronic inflammatory sensory polyradiculopathy. To diagnose this disease the identification of isolated involvement of the sensory roots is required.
Subject(s)
Gadolinium/diagnosis , Neural Conduction/physiology , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis , Electromyography , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/cerebrospinal fluid , Spinal Nerve Roots/pathologyABSTRACT
OBJECTIVE: To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis. STUDY DESIGN: We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females. We interviewed the patients, their mothers, or both regarding symptoms, age at onset, medical consultations, and recommended treatments. RESULTS: Neuropathic pain was the most frequent initial complaint, and rheumatic fever was the most common diagnosis. Seven patients were treated with penicillin for many years. Ten patients sought medical consultation because of abdominal pain and were diagnosed with food intoxication or nonspecific pain. Six patients sought consultation because of anhidrosis, considered of unclear cause, and angiokeratomas diagnosed as petechiae. Internists and pediatricians were the most frequently consulted specialists. The correct diagnosis was obtained after a mean of 19.7 years. CONCLUSIONS: Pediatricians as well as internists commonly misdiagnose Fabry disease. Neuropathic pain, hypohidrosis, and recurrent abdominal pain in childhood or adolescence should include Fabry disease in the differential diagnosis to facilitate earlier diagnosis and treatment of these patients.
Subject(s)
Diagnostic Errors , Fabry Disease/diagnosis , Adolescent , Adult , Aged , Child , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Young AdultABSTRACT
Immune mediated mechanisms play a role in some forms of diabetic neuropathies. We studied a 17-year-old man who developed asymmetric weakness and atrophy in both upper arms soon after the diagnosis of type 1 diabetes. Nerve conduction studies demonstrated multifocal motor conduction blocks, and serological investigations revealed subclinical Hashimoto's thyroiditis. Therapy with intravenous immunoglobulin and cyclophosphamide led to clinical recovery. This is the first observation of an association between type 1 diabetes, multifocal motor neuropathy and Hashimoto's thyroiditis.
Subject(s)
Diabetes Mellitus, Type 1/complications , Motor Neuron Disease/complications , Thyroiditis, Autoimmune/complications , Adolescent , Cyclophosphamide/therapeutic use , Diabetes Mellitus, Type 1/therapy , Humans , Immunoglobulins, Intravenous/therapeutic use , Immunosuppressive Agents/therapeutic use , Male , Motor Neuron Disease/therapy , Nerve Block/methods , Neural Conduction/physiology , Thyroiditis, Autoimmune/therapyABSTRACT
Os autores avaliam a importância da Proteína C-Reativa (PCR) no diagnóstico diferencial da meningite bacteriana (MB) e meningite de etiologia presumivelmente viral (MEV) e comparam as dosagens de PCR no soro e no líquido cefalorraquidiano (LCR). Foram analisadas amostras de soro e LCR de 126 pacientes, 88 com diagnóstico de MB e 38 com diagnóstico de MEV, atendidos no Hospital Universitário Regional do Norte do Paraná, entre os períodos de maio de 1994 a agosto de 1995 e janeiro a agosto de 1998. Demonstrou-se que 89,7 porcento e 28,5 porcento das amostras de soro de pacientes com MB e MEV, respectivamente, apresentaram valores elevados de PCR (p=0,00001). Em 100 porcento das amostras de LCR de pacientes com MEV a dosagem de PCR foi näo reagente (p=0,00009). A correlaçäo da dosagem de PCR no soro e no LCR foi significativa (p=0,000940), confirmando a sua utilidade no diagnóstico diferencial da MB e MEV
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Cerebrospinal Fluid/chemistry , Meningitis, Bacterial , Meningitis, Viral , C-Reactive Protein/analysis , Diagnosis, DifferentialABSTRACT
O índice cariogênico de Londrina vem caindo consideravelmente desde 1981(4,06) por cento até 1992 (1,90) por cento, segundo dados fornecidos pela Secretaria deSaúde do município de Londrina(tabela 1) comprovandoque o atendimento odontológico eficiente garante a manutençäo da saúde 33 populaçäo. A cárie se faz preocupante à medida que essa enfermidade aumenta com a idade, além disso, poderá preceder ao desenvolvimento davárias infecçöes sistêmicas, citando por exemplo o abscesso pulmonar, considerando a principal afliçäo da infäncia constituindo o maior problema da saúde pública. A fluoretaçäo da água no Conjunto Joäo Paz, situado na regiäo norte do município de Londrina, alvo de nossas pesquisas, foi somente instalada a pouco tempo, segundo dados de 1990 fornecidos pela Sanepar(Companhia de Saneamento do Paraná), constatando que o índice cariogênico de crianças atendidas no posto excedia as demais totalidadesda cidade, acompanhando a dificuldade de aquisiçäo de material e a falta de educaçäo sanitária. Apesar das doenças crônicas que atingem esta regiäo, o grupo GIM 13 escolheu a prevençäo da cárie como tema e através de trabalhos efetivos com a populaçäo e a ajuda da Clínica Universitária Odontológica Norte do Paraná, pode encaminhar propostas de soluçöes para grande parte deste problema