Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome.

  • Manal Nicolas-JilwanEmail author
  • Ahmed Nasser Al-Ahmari
  • Mohammed Abdulaziz Alowain
  • Khaled Saleh Altuhaini
  • Essam Abdulaziz Alshail
Case Report


There are few reported cases of tectocerebellar dysraphia with occipital encephalocele (TCD-OE) in the literature. This malformation was first described by Padget and Lindburg in 1972 and consists of an occipital encephalocele, a cerebellar midline defect, inverted cerebellum, and deformity of the tectum. Occurrence is believed to be sporadic with a male predominance and a usually poor prognosis. We report a patient with brain MRI findings compatible with tectocerebellar dysraphia and occipital encephalocele. Additional features consistent with Joubert syndrome including deepened interpeduncular fossa, as well as elongated, thickened, and anteroposteriorly oriented superior cerebellar peduncles, were noted. The patient’s evaluation also revealed a homozygous mutation of the TMEM231 gene, known to cause Meckel-Gruber and Joubert syndromes. Our case represents the first reported genetic confirmation that tectocerebellar dysraphia with occipital encephalocele is not a distinct nosological entity but likely a phenotypic variation of Joubert syndrome.


Tectocerebellar dysraphia Occipital encephalocele TMEM231 gene Joubert syndrome Meckel-Gruber syndrome 


Compliance with ethical standards

Conflict of interest

The authors declare that that they have no conflict of interest.


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© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Neuroradiology, Department of RadiologyKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  2. 2.Division of Neurosurgery, Department of NeurosciencesKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  3. 3.Department of Medical GeneticsKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  4. 4.Department of NeurosurgeryKing Saud Medical CityRiyadhSaudi Arabia

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