Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
Dropped head syndrome leading to the diagnosis of antisynthetase syndrome: a motor neuron mimicker.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Duman İlki Canan, Pek Gökhan, Özaydın Aksun Zerin, Şener Hüseyin Özden
Аннотация
BACKGROUND: Antisynthetase syndrome (ASS) is a rare subtype of idiopathic inflammatory myopathies that may present with muscular and/or extra-muscular features, sometimes delaying diagnosis. Dropped head syndrome (DHS) is an uncommon manifestation of axial muscle weakness and can mimic motor neuron disease or myasthenia gravis.
CASE PRESENTATION: We report the case of a 64-year-old male presented with dropped head and proximal weakness. Initial electromyography (EMG) revealed fibrillation potentials, positive sharp waves during rest, and signs of reinnervation during voluntary contraction, initially raising concern for a neurogenic process. Because of increased jitter on single-fiber EMG, myasthenia gravis was considered, but pyridostigmine provided no benefit. Although creatine kinase (CK) was only mildly elevated, myositis-specific autoantibodies, inflammatory biopsy changes, and myopathic features on repeat EMG, especially in cervical paraspinals, led to a diagnosis of ASS. Chest Computed Tomography (CT) revealed bibasilar bronchiectasis and micronodules.
CONCLUSION: This case highlights the diagnostic challenge of distinguishing ASS from motor neuron disease or myasthenia gravis. Inflammatory myopathies should be considered in DHS, with careful selection of muscles and interpretation of EMG findings, especially when CK elevation is modest.
CASE PRESENTATION: We report the case of a 64-year-old male presented with dropped head and proximal weakness. Initial electromyography (EMG) revealed fibrillation potentials, positive sharp waves during rest, and signs of reinnervation during voluntary contraction, initially raising concern for a neurogenic process. Because of increased jitter on single-fiber EMG, myasthenia gravis was considered, but pyridostigmine provided no benefit. Although creatine kinase (CK) was only mildly elevated, myositis-specific autoantibodies, inflammatory biopsy changes, and myopathic features on repeat EMG, especially in cervical paraspinals, led to a diagnosis of ASS. Chest Computed Tomography (CT) revealed bibasilar bronchiectasis and micronodules.
CONCLUSION: This case highlights the diagnostic challenge of distinguishing ASS from motor neuron disease or myasthenia gravis. Inflammatory myopathies should be considered in DHS, with careful selection of muscles and interpretation of EMG findings, especially when CK elevation is modest.