An SCN9A channelopathy causes congenital inability to experience pain
Cox et al. (2006)
Nature 444: 894–898 Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Goldberg et al. (2007)
Clin Genet 71: 311–319 A stop codon mutation in SCN9A causes lack of pain sensation
Ahmad et al. (2007)
Hum Mol Genet 16: 2114–2121 ‘We cannot learn without pain.’– Aristotle

A 62-year-old man was admitted via the emergency department having been found unresponsive with clenched teeth and open eyes. His family reported deterioration in speech over the previous 7 days that had worsened in the preceding 48 hours. They also reported complaints of dizziness and vertigo. The only past medical history of note was depression and anxiety that had been treated with gabapentin and mirtazapine. At presentation he was hypothermic with a temperature of 34.2 o C, maintaining his airway, breathing spontaneously, cardiovascularly stable and with no identifi able biochemical or metabolic cause for a Glasgow coma scale (GCS) of 6. Neurological examination revealed normal tone and intact refl exes; however, power and sensation could not be assessed due to low GCS. The pupils were bilaterally equal and reactive to light.Initial bloods were unremarkable. Non-contrast head computed tomography (CT) scan revealed bilateral occipital infarcts (Fig 1). Magnetic resonance imaging (MRI) was recommended by the radiologist to ascertain the diagnosis. Unfortunately the patient deteriorated into status epilepticus which could not be controlled by lorazepam. His airway was secured by rapid sequence intubation and he was invasively ventilated, sedated with propofol and paralysed with atracurium. A contrast CT angiogram was performed; this demonstrated bilateral ill-defi ned, non-enhancing areas of low attenuation within the posterior regions of parietal lobes in addition to similar bilateral lesions in the occipital lobes.