Concomitant myotonic dystrophy type 1, CIDP-like neuropathy and Hashimoto thyroiditis: a causal link?
| Autor: | Vita Direnzo, Elena Luciannatelli, Stefano Zoccolella, R. Bellomo, Maria Liguori, E. Vecchio, B. Brancasi, Carla Tortorella |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Glucose tolerance test
Weakness medicine.medical_specialty medicine.diagnostic_test biology business.industry Muscle weakness Neurological examination CIDP Myotonia medicine.disease Myotonic dystrophy Atrophy Endocrinology Neurology Internal medicine medicine biology.protein Creatine kinase Neurology (clinical) medicine.symptom business |
| Zdroj: | European journal of neurology (Online) (2012). doi:10.1111/j.1468-1331.2012.03820.x info:cnr-pdr/source/autori:Zoccolella S, Vecchio E, Direnzo V, Luciannatelli E, Brancasi B, Bellomo R, Liguori M, Tortorella C/titolo:Concomitant myotonic dystrophy type 1, CIDP-like neuropathy and Hashimoto thyroiditis: a causal link?/doi:10.1111%2Fj.1468-1331.2012.03820.x/rivista:European journal of neurology (Online)/anno:2012/pagina_da:/pagina_a:/intervallo_pagine:/volume |
| DOI: | 10.1111/j.1468-1331.2012.03820.x |
| Popis: | Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion in the myotonic dystrophy protein kinase (DMPK) gene [1]. Although DM1 is a multisystemic disease, the involvement of peripheral nerves is controversial [1]. The development of autoimmune diseases is also largely debated; no co-occurrence of inflammatory neuropathy and Hashimoto thyroiditis (HT) has been reported. We describe the sporadic case of a 67-year-old man presenting with gait disturbance, diffuse muscle weakness progressively worsening in the previous 5 years. Clinical history revealed the diagnosis of bilateral cataract and extrasystolic cardiac arrhythmia. On admission, patient’s ambulation was ataxic and needed unilateral support. Neurological examination revealed myotonic face, slightly nasal speech, weakness and atrophy in neck and facial muscles, diffuse muscle weakness and hypotrophy of the limbs, more prominent in the scapular girdles and in the distal lower limbs. Grip-release myotonia was evocable. Deep tendon reflexes were sluggish; plantar responses were flexor. Vibration sense was markedly impaired, whereas pain and touch sensation was normal. Complete blood count, HgbA1C (4, 3%; normal range: 2.25%) and glucose tolerance test (129 mg/dl 2 h after a 75-g glucose drink; normal range: 140 mg/ dl), liver and kidney function tests, cobalamin, folate, lipid profile, creatine kinase, antigangliosides antibodies and immunofixation were normal. Free T4 was slightly decreased (0.82 ng/dl; normal range: 0.9–1.7 ng/dl), free T3 was normal and TSH (4.3 mUI/l; normal range: 0.3 –3.6 mUI/l), antithyroglobulin (TG) (150.8 UI/l; normal range: 5–100 mUI/l), antithyroperoxidase antibodies (TPO |
| Databáze: | OpenAIRE |
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