Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.

No abstract

A 40-year-old woman presented with rapidly progressive quadriparesis and severe weight loss. Examination disclosed global amyotrophy, absent deep tendon reflexes and malignant acanthosis nigricans ( Figure). Neurophysiologic studies disclosed pure motor neuronopathy. Paraneoplastic screening with fullbody CT/MRI scan revealed an intravesical mural lesion (Figure) and urethrocystoscopy showed low-grade papillary urothelial carcinoma of the urinary bladder. High-titer serum anti-Hu antibodies were identified. There was marked motor and dermatological improvement after lesion removal, combined with intravenous immunoglobulin and methylprednisolone.Dermatological signs are key diagnostic clues in the suspicion of underlying malignancies 1 , including rarely urological malignancies 2 , in the context of paraneoplastic motor neuronopathy 3,4 .

No abstract

No abstract