eISSN: 2345-2781  
. 2017;6(2):76-79.
doi: 10.15171/jrip.2017.14
PMID: 28497078
PMCID: PMC5423287

Case Report

Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review

Farrokh Seylanian Toosi 1, Samineh Boloursaz 1 * , Bita Abbasi 1, Reza Hekmat 2, Reihaneh Mortazavi Ardestani 1, Mina Mohajerzadeh 1

1 Department of Radiology, Mashhad University of Medical Sciences, Mashhad, Iran
2 Department of Nephrology, Mashhad University of Medical Sciences, Mashhad, Iran
*Corresponding author: Samineh Boloursaz, Email: BoloursazMS921@mums.ac.ir

Abstract

Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transplant years ago without the true diagnosis of the disorder. Brain imaging revealed the classic "molar tooth sign" appearance, and clinical evaluation established the diagnosis for both of the siblings. Imaging should be done to evaluate the neuroradiological findings of Joubert syndrome. With a neonate with Joubert syndrome in a family, antenatal diagnosis by ultrasound is crucial for future siblings.

Implication for health policy/practice/research/medical education:

Joubert syndrome is a rare genetic disorder. It is characterized by nephrologic, neurologic and ophthalmologic disorders. Absence or underdevelopment of the cerebellar vermis, malformed brain stem (molar tooth sign), ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia and seizure are the neurologic features of this syndrome. It is one of the causes of retinitis pigmentosa syndrome. The most common nephrologic presentations of Joubert syndrome are cystic dysplasia and nephronophthisis.

Please cite this paper as: Seylanian-Toosi F, Boloursaz S, Abbasi B, Hekmat R, Mortazavi-Ardestani R, Mohajerzadeh MN. Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review. J Renal Inj Prev. 2017;6(2):76-79. DOI: 10.15171/jrip.2017.14

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