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Rare disease
CASE REPORT
An elusive ciliopathy: Joubert syndrome
  1. Carlo Canepa1,
  2. Ben Burton2,
  3. Abdul Muhith2
  1. 1Department of Stroke and Neurology, James Paget University Hospital, Norwich, UK
  2. 2Stroke Services, James Paget University Hospitals NHS Foundation Trust, Great Yarmouth, Great Yarmouth, UK
  1. Correspondence to Dr Carlo Canepa, Neurocanepa{at}gmail.com

Summary

The police brought a 65-year-old female patient to the EADU after being found ‘roaming the streets’ in an apparent state of confusion. This was her third admission under the same circumstances during the last 3 years. Neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular reflex, (4) mild ataxia and (5) mild hypotonia. Renal function was abnormal and liver function was normal. No retinal disturbance was found. The head CT on admission was normal for stroke and the lumbar puncture was negative for encephalitis. Her brain MRI showed ‘molar tooth sign’, suggestive of Joubert syndrome, which was confirmed by genetic testing showing anomalous NPHP1 gene

  • Brain stem / cerebellum
  • Neuro genetics
  • Neuroimaging

https://doi.org/10.1136/bcr-2017-220459

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    Footnotes

    • Contributors All authors contributed to this case. The assessment in clinic was done by all three in different times and we then gathered in five occasions to discuss our findings and write down our interpretation of our ideas. The conception of the design was done during these meetings and the overall interpretation of laboratory data and clinical findings was done by CC and BB with the assistance of the trainee AM. All three authors obtained different reference articles and research papers regarding the patient independently and then gathered to discuss and contrast the content of each article. CC followed up the patient in neurology clinic and BB followed up the patient in ophthalmology.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.