Compromiso sensitivo y polineuropatía periférica como manifestación inicial de enfermedad de Creutzfeldt-Jakob. A propósito de un caso

La enfermedad de Creutzfeldt-Jakob (ECJ) es una rara enfermedad neurodegenerativa con una alta incidencia en Chile respecto del resto del mundo. El cuadro se caracteriza principalmente por desarrollo de demencia rápidamente progresiva y diversos signos neurológicos inespecíficos, siendo el más frecuente la mioclonía. El caso que se describirá a continuación destaca por las manifestaciones iniciales atípicas que presentó el paciente, tales como compromiso sensitivo en región cráneo-cérvico-dorsal y polineuropatía periférica de extremidades inferiores (EEII), lo que significó un retraso en el diagnóstico clínico de la ECJ. Es importante conocer los diferentes síntomas y signos que pueden presentarse en el cuadro clínico de ECJ, tanto típicos como aquellos menos frecuentes, para así poder dar con el diagnóstico de la enfermedad en etapas más tempranas. De igual manera, es fundamental contar con herramientas diagnósticas como la detección de proteína 14-3-3 o proteína Tau en los centros de salud de nuestro país. Esto permitiría al equipo de salud, brindar un manejo de soporte adecuado y oportuno a estos pacientes.

Creutzfeldt-Jakob disease is a rare neurodegenerative disease with a high incidence in Chile compared to the rest of the world. The condition is mainly characterized by the development of rapidly progressive dementia and various nonspecific neurological signs, the most common being myoclonus. The case that will be described below stands out for the atypical initial manifestations that the patient presented, such as sensory compromise in the cranio-cervico-dorsal region and peripheral polyneuropathy of the lower extremities, which meant a delay in the clinical diagnosis of the disease. It is important to know the different symptoms and signs that can be present in the clinical picture of CJD, both typical and those less frequent, in order to be able to diagnose the disease in earlier stages. Similarly, it is essential to have diagnostic tools such as the detection of 14-3-3 protein or Tau protein in health centers in our country. This would allow the health team to provide adequate and timely support management to these patients.

Wernicke's Encephalopathy and Peripheral Polyneuropathy Developed during Long Term Metronidazole Therapy in a Patient with a Brain Abscess: A Case Report

Metronidazole can induce serious neurologic problems including peripheral neuropathy, seizures, and encephalopathy. We examined a patient with acute Wernicke's encephalopathy and peripheral polyneuropathy that had developed after prolonged metronidazole therapy without a history of chronic alcoholism or poor nutritional intake. The 68-year-old man had been hospitalized for a brain abscess and was treated for 10 weeks with metronidazole (2 grams per day). This patient, who showed symptoms of numbness and tingling in the legs, was referred for electromyography (EMG) and was diagnosed with peripheral polyneuropathy. A few days later, he developed sudden ataxia, dizziness, and diplopia. The neurologic examination revealed nystagmus and ophthalmoplegia, and the FLAIR brain MRI showed symmetrical high signal intensity lesions in the cerebellar dentate nucleus, midbrain, tegmentum around the periaqueductal gray matter, and tectum. After administering intravenous thiamine and stopping the metronidazole therapy, he recovered from the ophthalmoplegia and ataxia. Brain MR showed complete recovery within 3 weeks; however the EMG remained abnormal for a further 6 months, although the symptoms were almost completely resolved by this time.

Peripheral polineuropathy in patients with juvenile systemic lupus erythematosus / Polineuropatia periférica em pacientes com lúpus eritematoso sistêmico juvenil

Introdução: A polineuropatia periférica é uma das 19 síndromes neuropsiquiátricas do lúpus eritematoso sistêmico, segundo os critérios de classificação propostos pelo Colégio Americano de Reumatologia (ACR) para síndromes neuropsiquiátricas. No entanto, há descrições raras dessa manifestação, particularmente em populações de lúpus eritematoso sistêmico juvenil (LESJ). Métodos: De 1983 a 2007, 5.079 pacientes foram acompanhados na Unidade de Reumatologia Pediátrica do ICrûHCûFMUSP, e o diagnóstico de LESJ segundo os critérios do ACR foi estabelecido em 228 casos (4,5%). Polineuropatia periférica foi diagnosticada de acordo com as síndromes neuropsiquiátricas do ACR. Resultados: Dos 228 pacientes com LESJ, cinco (2,2%) desenvolveram polineuropatia periférica e foram retrospectivamente descritos. O diagnóstico foi confirmado por eletroneuromiografia, que evidenciou polineuropatia periférica distal, sensitiva e/ou motora, envolvendo quatro membros em dois pacientes e membros inferiores nos demais. Três eram pacientes do sexo feminino e todos tiveram a polineuropatia periférica após o diagnóstico de LESJ. A mediana de idade de início da doença foi de 14 anos, e a mediana de tempo entre o início de LESJ e o diagnóstico da polineuropatia periférica foi de 23 meses. As apresentações clínicas mais comuns foram fraqueza muscular e hiporreflexia. Todos os pacientes apresentavam anticorpos antifosfolípides. O tratamento foi realizado com corticosteroides em todos os pacientes, associado com ciclofosfamida endovenosa em três. Um paciente evoluiu com incapacitação funcional, presença de paresia de membros inferiores e necessidade de cadeira de rodas. Uma paciente faleceu por sepse grave. Conclusões: A polineuropatia periférica é uma manifestação rara no LESJ, grave, por vezes incapacitante e habitualmente associada a anticorpos antifosfolípides.

INTRODUCTION: Peripheral polyneuropathy is one of 19 neuropsychiatric syndromes seen in systemic lupus erythematosus, according to the classification criteria proposed by the American College of Rheumatology (ACR) for neuropsychiatric syndromes. However, this manifestation has not been reported very often, especially in patients with juvenile systemic lupus erythematosus (JSLE). PATIENTS AND METHODS: From 1983 to 2007, 5,079 patients were seen at the Pediatric Rheumatology Unit of the ICr-HC-FMUSP; 228 (4.5%) patients were diagnosed with JSLE according to the criteria of the ACR. Peripheral polyneuropathy was diagnosed according to the criteria for neuropsychiatric syndromes of the ACR. RESULTS: Five (2.2%) out of 228 patients with JSLE developed peripheral polyneuropathy and were described retrospectively. The diagnosis was confirmed by electroneuromyography, which showed the presence of distal peripheral polyneuropathy, sensorial and/or motor, involving all four limbs, in two patients, and the lower limbs, in three patients. Three of those patients were females, and peripheral neuropathy developed after the diagnosis of JSLE. The mean age of onset of the disease was 14 years, and the mean time between the onset of JSLE and the diagnosis of peripheral polyneuropathy was 23 months. The most common clinical presentations included muscular weakness and hyporeflexia. Antiphospholipid antibodies were present in all patients. Treatment consisted of corticosteroids in all patients, associated with intravenous cyclophosphamide in three patients. One patient evolved to functional disability and paresis of the lower limbs, requiring a wheelchair. One female patient died of severe sepsis. CONCLUSIONS: Peripheral polyneuropathy is a rare, severe, and occasionally incapacitating manifestation of JSLE, commonly associated with the presence of antiphospholipid antibodies.

The value of contact heat evoked potentials for the early diagnosis of diabetic peripheral polyneuropathy / 中华物理医学与康复杂志

Objective To study the value of contact heat evoked potentials (CHEPs) for the early diagnosis of diabetic peripheral polyneuropathy. Methods Seventy-five diabetic patients were examined by conventional nerve conduction velocity studies and then divided into 2 groups: diabetics with normal nerve conduction and diabetics with abnormal nerve conduction. Thirty-three normal subjects were used as controls. Toronto Clinical Neuropathy Sco-ring System was used to evaluate the patients. CHEPs were recorded using different stimulation intensities at different temperatures. Results The peak latencies of 45℃ , 50℃, 53℃ in diabetics with normal nerve conduction group were longer than those in normal control group, with a significant difference between the 2 groups(P<0.05). The peak latencies of diabetics were positively related to Toronto scores. Conclusion CHEPs could detect the impair-ment of diabetic peripheral nerve and reveal the impairment earlier than conventional nerve conduction velocity exami-nation, The prolongation of peak latency in diabetics group was significantly and positively related to clinical condi-tion.

A case of Peripheral Neuropathy After High Electrical Injury / 대한산업의학회지

BACKGROUND: With increasing industrial development, opportunities are growing to contact electricity in the workplace or home. Therefore, the risk of electrical accident has been increased gradually. In general, electrical injuries involve the extremities and result in amputation or severe disability of limbs. Delayed spinal cord injury and peripheral neuropathies following electrical accidents are extremely rare. CASE REPORT: A 32-year-old man with 10 years working experience at a CRT-monitor manufacturer with repetitive exposures to high voltage current visited our hosipital. He complained of left leg weakness and atrophy, and intermittent pain. The symptoms were progressive. Other symptoms occurred such as nocturia, hesitancy, and weak urinary stream. We examined the patient and conducted EMG, L-spine MRI, neurometer test, isokinetic strength test, and physical examination. The results showed neural injuries due to anterior horn lesions or compression of the left femoral nerve pathway, with a consequent diagnosis of neurogenic bladder.

A Case of Adult-onset Metachromatic Leukodystrophy with Normal Nerve Conduction Studies

Adult-onset metachromatic leukodystrophy (MLD) is very rare with a combination of cognitive and behavioral symptoms and peripheral polyneuropathy. A 47-year-old man was admitted due to memory impairment, gait disturbance, dysarthria and personality changes for a period of 3 years. The arylsulfatase A level in his leukocytes was decreased. A brain MRI showed bilateral symmetrical demyelination but nerve conduction velocities (NCV) were normal. We report a very rare case of adult-onset MLD with normal NCV.

Multiple Symmetric Lipomatosis with Peripheral Neuropathy: A case report

Multiple symmetric lipomatosis is a rare disorder characterized by massive fatty deposits arranged symmetrically around the neck, shoulder, abdomen and back. It is typically associated with high alcohol consumption and a high prevalence of peripheral neuropathy. The pathogenesis of the syndrome is still unknown, but mitochondrial abnormality or metabolic abnormalities are occasionally found in the affected patients. In our patient, clinical and electrophysiologic signs of a generalized peripheral sensorimotor neuropathy and a multiple bilateral lumbosacral radiculopathy were observed. Sural nerve biopsy demonstrated many small unmyelinated fibers with complete loss of axoplasm and a extensive loss of myelinated fibers. Lipoma biopsy demonstrated non-capsulated mature adipose cells in the subcutaneous tissue. Serum lipid studies were normal. MERRF point mutation of mitochondrial DNA were negative in blood. We reported a case of multiple symmetric lipomatosis and peripheral polyneuropathy with the review of literature.

One Case of Peripheral Polyneuropathy Associated with Klippel-Trenaunay Syndrome: A case report

Klippel-Trenaunnay syndrome is characterized by three typical clinical manifestations; 1) Capillary malformations (port-wine stains), 2) bony and soft tissue hypertrophy, 3) varicosities or venous malforamation, but many other clinical manifestations can be presented. Although many associated clinical manifestations were reported in Klippel-Trenaunay syndrome, peripheral polyneuropathy or any other results of electrodiagonostic study were not reported previously. We experienced a 22 year old male who was transfered in rehabiliation program after surgical management of intra cerebral hemorrhage. During rehabilitation program we diagnosed him as Klippel-Trenaunay syndrome by three typical clinical manifestations associated with dilated cardiomyopathy. He also presented sensory impairment in distal part of all extremites. Electrodiagonostic study revealed peripheral polyneuropathy. We concluded that the possibility of peripheral polyneuropathy should be considered in Klippel-Trenaunnay syndrome.

Relations of Glycosylated Hemoglobin and Parameters of Nerve Conduction Study in Diabetic Peripheral Polyneuropathy

OBJECTIVE: This study was performed to determine the relations of glycosylated hemoglobin (HbA1c) and parameters of nerve conduction study (NCS) in diabetic peripheral polyneuropathy patients. METHOD: Prospectively, total 40 patients with non-insulin dependent diabetes mellitus were included in the study. NCS was performed on median, ulnar, posterior tibial, deep peroneal, superficial peroneal, and sural nerves. Distal latency and conduction velocity (CV) of compound muscle action potential (CMAP), distal latency and amplitude of sensory nerve action potential (SNAP) were used as parameters of NCS. Multiple linear regression analysis were used to analyze the relations of HbA1c and parameters of NCS, after adjustment for age, height, weight, and disease duration of diabetes mellitus. RESULTS: HbA1c level had an inverse relation to CV of median motor nerve (beta= 1.272, p<0.01), ulnar motor nerve (beta= 1.287, p<0.01), posterior tibial nerve (beta= 0.982, p<0.05), and deep peroneal nerve (beta= 1.449, p<0.05). CONCLUSION: This study indicates that HbA1c level was inversely related to motor nerve CV, and that sustained hyperglycemia may be involved in demyelination of motor nerves. Analysis of motor nerve CV related to HbA1c is expected to be useful in the follow-up or efficacy study of diabetes mellitus neuropathy as baseline data.

Arteiovenous Fistula Effects on Peripheral Nerve in Patients with Chronic Renal Failure

OBJECTIVE: The purpose of this study is to evaluate the arteiovenous fistula effects on peripheral nerve in patients with chronic renal failure by nerve conduction studies. METHOD: Nerve conduction studies were performed in 23 patients with chronic renal failure. We not only measured distal latencies, amplitudes, and conduction velocities of median and ulnar motor nerves but also measured same parameters of radial sensory nerves at both upper limbs. In case of pateints with suspected peripheral polyneuropathy, we checked peripheral nerves at one lower limb. The results of nerve conduction studies and the frequency of cubital tunnel syndrome or carpal tunnel syndrome were compared between arteiovenous fistula side and non-arteiovenous fistula side. RESULTS: The amplitudes of median motor, ulnar motor nerves and radial sensory nerve in arteiovenous fisula side are statistically lower than those in non-arteiovenous fisula side (p<0.05). In the 14 patients with peripheral polyneu ropathy, the difference is also statistically significant between two sides (p<0.05). Compared arteiovenous fisula side with non-arteiovenous fisula side, the frequency of cubital tunnel syndrome or carpal tunnel syndrome was not different between two sides. CONCLUSION: Arteiovenous fisula may damage to the peripheral nerve in patients with chronic renal failure.

Organophosphate Induced Peripheral Polyneuropathy with Delayed Myelopathy: A case report

Organophosphate is known to damage both the peripheral and central nervous system. We report a case of organophosphate-induced peripheral polyneuropathy with myelopathy. A 46 years old woman who had ingested a large amount of insecticide (organophosphate) was transported to our hospital. Following medical treatment, she was transferred to the Department of Rehabilitation Medicine 1 month later. Upon admission to rehabilitation medicine, the patient was quadriplegic with markedly decreased muscle tone and strength. Electrodiagnostic examination revealed low amplitude of sensory nerve action potential (SNAP), unevokable compound muscle action potential in distal muscles and abnormal spontaneous activities with needle electromyography, which were compatible with peripheral polyneuropathy. Three months later, motor and sensory function of upper extremities were normalized. The muscle tone of lower extremity increased to Ashworth grade II. Follow-up electrodiagnostic examination revealed normalization of SNAP and disappearance of spontaneous activities, but somatosensory evoked potential which were initially normal, revealed prolonged P40 latencies in the lower extremities. These electrophysiological findings were thought to result from the spinal cord lesion and correlated with clinical findings. We diagnosed the patient as peripheral polyneuropathy with delayed myelopathy induced by organophosphate.

Evaluation of Peripheral Polyneuropathy in Patients with Diabetes Mellitus Using Quantitative Sensory Test

OBJECTIVE: The purpose of this study was to determine whether quantitative sensory test can be used as a screening test of peripheral polyneuropathy in patients with diabetes mellitus, and to evaluate the severity of peripheral polyneuropathy in patients with diabetes mellitus using quantitative sensory test. METHOD: We performed nerve conduction study to right upper and left lower extremity of the patients. Quantitative sensory test was performed using TSA-2001 thermal sensory analyser on right thenar and left foot dorsum in both diabetic and control groups. RESULTS: 1) The warm sense and heat pain threshold were higher, the cold sense and cold pain threshold were lower in diabetic group than age-matched control group (p<0.05). 2) The warm sense and heat pain threshold were higher, the cold sense and cold pain threshold were lower in diabetic group than young-aged control group (p<0.05). 3) As nerve conduction study results were severe, the cold sense threshold in right thenar were decreased (p<0.05). CONCLUSION: Quantitative sensory study in patients with diabetes mellitus are sensitive to identify neuropathic change; thus, they would be used as the screening method of diabetic peripheral polyneuropathy.

A case of neurosarcoidosis without systemic involvement

Sarcoidosis is a multisystem disorder of unknown cause. The involvement of the nervous system occurs 5% to 27% of patients with sarcoidosis, and neurosarcoidosis without systemic involvement is rare and difficult to diagnose. We present a case of 58-year-old woman with clinical features of multiple cranial and peripheral polyneuropathy with noncaseating granulomatous inflammation. Extensive testing for occult systemic sarcoidosis was negative. Sural nerve biopsy showed several perineural noncaseous granulomatous inflammation with prominent epithelioid cells. Oral steroid therapy led to some improvement. We report a patient with multiple cranial and peripheral polyneuropathy without systemic involvement, suspected sarcoidosis.