Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset and an intermediate proximo-distal phenotype. We report a case of dysferlinopathy and discuss relevant clinical, pathological and genetic data. Material and methods. We present the case of a 36 years old man with more than ten years history of progressive muscle weakness and atrophies in the distal lower limbs. He had a first clinical evaluation at the age of 24 years and a muscle biopsy was performed but it was inconclusive. On current admission, he presented with clinical suspicion of Charcot-Marie-Tooth disease, but because of increased serum creatine kinase levels and EMG (electromyography) findings of myopathy, another muscle biopsy was recommended. The muscle tissue obtained was analysed by histopathology, immunohistochemistry, and Western blot techniques, and also a genetic confirmation was recommended. Results. Based on morphological findings, electrodiagnostic study results and clinical context, the diagnosis of primary dysferlinopathy was established, supported by genetic data. Conclusions. The diagnosis may be challenging in these rare genetic myopathies, due to the high variability of phenotypes, ranging from asymptomatic hyperCKemia (high serum creatine kinase level) to a severe clinical picture with loss of ambulation. Repeated evaluation, increasing access to genetic testing and a multidisciplinary approach made an accurate diagnosis possible in our case.
Wernicke Encephalopathy (WE) is frequently missed out in clinical practice. The consequences of under diagnosing WE are deleterious. WE is caused by thiamine (vitamin B1) deficiency and may occur in alcoholic and non-alcoholic patients. A better knowledge on epidemiology may shed light on the real nature of this condition. In this short review we outline epidemiological factors associated with WE.
Both Hashimoto encephalopathy (HE) and epilepsia partialis continua (EPC) are neurological entities less encountered by the clinician. Nevertheless, they imply diagnostic and therapeutic challenges. We report the case of a 42-year old woman with HE and EPC. Difficulties of diagnosis and management of HE and EPC are discussed.
We report the case of a 46-year old female with chronic hepatitis C virus infection who developed paresthesia and weakness of face and upper and lower extremities nine months after administration of peginterferon-alpha 2a. Considering her clinical evolution, neurological examination and nerve conduction studies, she was diagnosed with multifocal motor neuropathy related to peginterferon-alpha treatment. The patient recovered after use of intravenous immunoglobulins. From our knowledge there is no data in the literature about multifocal motor neuropathy related to peginterferon-alpha treatment. Doctors should be aware of this rare association, which requires immediate drug discontinuation and early management.
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