Young people with stroke require detailed investigation because uncommon causes are more likely. A 19-year-old woman presented with multiple cortical and subcortical infarcts, arterial aneurysms, anaemia and hypertension. Further evaluation identified a systemic vasculopathy secondary to a deficiency of adenosine deaminase 2, a rare treatable monogenic disorder.
We describe a woman with stiff-person syndrome (SPS), whose muscle spasms resulted in sequential bilateral femoral neck fractures. Orthopaedic fixation of the first fracture was complicated by increased muscle spasm, fracture nonunion and ultimately metalwork fracture. SPS was diagnosed following the fracture of the contralateral femoral neck, neurology assessment and detection of high-titre antibodies to glutamic acid decarboxylase. Multidisciplinary management with high-dose benzodiazepines, intravenous immunoglobulin infusions, and bilateral total hip replacements achieved a good functional outcome. Spasms associated with SPS are a rare cause of pathological fractures and may cause orthopaedic fixation to fail. Early recognition and multidisciplinary care are essential to prevent additional morbidity.
Explaining basic illness mechanisms is an important step in communicating functional neurological symptoms. Clinical signs for motor symptoms, such as the Hoover test, have proven an excellent basis for mechanistic explanations. Here, I recommend a simple technique for eliciting tingling sensations through directed bodily attention, as a helpful experiential starting point for explanations of sensory gating and somatosensory amplification in patients with functional hyperaesthesia, paraesthesia and chronic pain.
A man aged in his sixties presented to the emergency department with vomiting, dizziness and generalised weakness preceded by perioral and peripheral paraesthesias for several hours. He did not speak English and was visiting from overseas. Examination revealed multidirectional nystagmus, subtle bilateral ptosis, marked bilateral upper limb dysmetria and heel-shin ataxia, with mild proximal limb weakness. Brain imaging was unremarkable. Further history revealed the man had gone fishing and eaten a fish he had caught earlier that day. He was subsequently diagnosed with tetrodotoxin toxicity from pufferfish ingestion. He was managed supportively and made a complete recovery. Tetrodotoxicity has been hitherto considered rare outside of Southeast Asia, but rising water temperatures and human interventions have facilitated the migration of marine species containing tetrodotoxin to a wider geographical range.
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