McArdle Disease vs. Stiff-Person Syndrome: A Case Report Highlighting the Similarities Between Two Rare and Distinct Disorders
| Autor: | Alyssa N Wenzel, Kerilyn Godbe, Sahana Nazeer, Douglas J. Grider, Adrienne Kinsey, Giovanni Malaty |
|---|---|
| Přispěvatelé: | Virginia Tech Carilion School of Medicine |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Weakness McArdle disease autoimmune disease Disease Chest pain lcsh:RC346-429 03 medical and health sciences 0302 clinical medicine Biopsy medicine case report Medical history lcsh:Neurology. Diseases of the nervous system Muscle biopsy medicine.diagnostic_test business.industry Stiff Person Syndrome 030229 sport sciences medicine.disease Neurology diagnostic workup Neurology (clinical) Differential diagnosis medicine.symptom business 030217 neurology & neurosurgery Stiff person syndrome |
| Zdroj: | Frontiers in Neurology, Vol 11 (2020) Frontiers in Neurology |
| ISSN: | 1664-2295 |
| Popis: | McArdle disease is a rare autosomal recessive disorder of muscle glycogen metabolism that presents with pain and fatigue during exercise. Stiff-Person Syndrome is an autoimmune-related neurologic process characterized by fluctuating muscle rigidity and spasm. Reported is a 41-year-old male who presented to the emergency department due to sudden-onset weakness and chest pain while moving his refrigerator at home. Cardiac workup was non-contributory, but a creatine kinase level > 6,000 warranted a muscle biopsy. The biopsy pathology report was misinterpreted to be diagnostic for McArdle disease given the clinical presentation. After 4 years of treatment without symptomatic improvement, a gradual transition of symptoms from pain alone to pain with stiffness was noted. A positive glutamic acid decarboxylase antibody test resulted in a change of diagnosis to Stiff-Person Syndrome. This is the first known case that highlights the similarities between these two rare and distinct disease processes, highlighting the necessity for thorough history taking, maintenance of a broad differential diagnosis, and knowledge of how best to interpret complex pathology reports. Virginia Tech Open Access Subvention Fund We would like to acknowledge the Virginia Tech Open Access Subvention Fund for supporting the publication of this article. |
| Databáze: | OpenAIRE |
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