Advertisement

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
  • 25 Downloads

Abstract

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.

Keywords

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

Notes

Compliance with ethical standards

Conflict of interest

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

References

  1. 1.
    Padget DH, Lindenberg R (1972) Inverse cerebellum morphogenetically related to Dandy-Walker and Arnold-Chiari syndromes. Johns Hopkins Med J 131:228–246Google Scholar
  2. 2.
    Friede RL, Boltshauser E (1978) Uncommon syndromes of cerebellar aplasia II; tecto-cerebellar dysraphia with occipital encephalocele. Dev Med Child Neurol 20:758–763CrossRefGoogle Scholar
  3. 3.
    Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B, FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL (2012) Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet 49(10):636–641CrossRefGoogle Scholar
  4. 4.
    Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, NISC Comparative Sequencing Program, Mullikin JC, Gahl WA, Vilboux T, Gunay-Aygun M (2016) TMEM231 gene conversion associated with Joubert and Meckel-Gruber syndromes in the same family. Hum Mutat 37(11):1144–1148CrossRefGoogle Scholar
  5. 5.
    Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS (2013) Mutations in TMEM231 cause Meckel-Gruber syndrome. J Med Genet 50(3):160–162CrossRefGoogle Scholar
  6. 6.
    Poretti A, Singhi S, Huisman TA, Meoded A, Jallo G, Ozturk A, Boltshauser E, Tekes A (2011a) Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics 42(4):170–174CrossRefGoogle Scholar
  7. 7.
    Komiyama A, Toda H, Johkura K, Kataoka M, Yamamoto I (1999) Pretectal pseudobobbing associated with an expanding posterior fossa cyst in tectocerebellar dysraphia: an electrooculographic study. J Neurol 246:221–223CrossRefGoogle Scholar
  8. 8.
    Dehdashti AR, Abouzeid H, Momjian S, Delavelle J, Rilliet B (2004) Occipital extra- and intracranial lipoencephalocele associated with tectocerebellar dysraphia. Childs Nerv Syst 20:225–228CrossRefGoogle Scholar
  9. 9.
    Demaerel P, Kendall BE, Wilms G, Halpin SFS, Casaer P, Baert AL (1995) Uncommon posterior cranial fossa anomalies: MRI with clinical correlation. Neuroradiology 37:72–76CrossRefGoogle Scholar
  10. 10.
    Timur H, Sanhal CY, Tokmak A et al (2015) Prenatal diagnosis of tectocerebellar dysraphia with occipital encephalocele. J Clin Diagn Res 9(12):QD05–QD07Google Scholar
  11. 11.
    Agrawal A, Joharapurkar SR, Khan AU (2010) Tecto-cerebellar dysraphia manifesting as occipital meningocoele associated with congenital melanocytic nevi and pectus excavatum. Iran J Pediatr 20(1):118–122Google Scholar
  12. 12.
    Anik I, Koc K, Anik Y, Yildiz DK, Ceylan S (2010) Tectocerebellar dysraphism with vermian encephalocele. J Child Neurol 25(11):1411–1414CrossRefGoogle Scholar
  13. 13.
    Krishnamurthy S, Kapoor S, Sharma V, Prakash A (2008) Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease. Indian J Pediatr 75(11):1178–1180CrossRefGoogle Scholar
  14. 14.
    Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA (2017) Meckel–Gruber syndrome: an update on diagnosis, clinical management, and research advances. Front Pediatr 5:244CrossRefGoogle Scholar
  15. 15.
    Reiter JF, Leroux MR (2017) Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol 18(9):533–547CrossRefGoogle Scholar
  16. 16.
    Parisi MA, Doherty D, Chance PF et al (2007) Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet 15(5):511–521CrossRefGoogle Scholar
  17. 17.
    Poretti A, Huisman TA, Scheer I et al (2011b) Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. Am J Neuroradiol 32(8):1459–1463CrossRefGoogle Scholar
  18. 18.
    Chowdhary UM, Ibrahim AW, Ammar AS, Dawodu AH (1989) Tecto-cerebellar dysraphia with occipital encephalocele. Surg Neurol 31(4):310–314CrossRefGoogle Scholar
  19. 19.
    Salonen R (1984) The Meckel syndrome – clinicopathological findings in 67 patients. Am J Med Genet 18:671–689CrossRefGoogle Scholar

Copyright information

© 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

Personalised recommendations