Logo image
Back
Joubert Syndrome: A Molar Tooth Sign in Disguise
Journal article   Open access   Peer reviewed

Joubert Syndrome: A Molar Tooth Sign in Disguise

Likhita Shaik, Abhimanyu Ravalani, Shruti Nelekar, Vamsi Krishna Gorijala and Kaushal Shah
Curēus (Palo Alto, CA), Vol.12(8), e9718
08/13/2020
DOI: 10.7759/cureus.9718
PMCID: PMC7489322
PMID: 32944439
url
https://doi.org/10.7759/cureus.9718View
Published (Version of record) Open Access

Abstract

Joubert syndrome (JS) is a rare genetic ciliopathy characterized by the aplasia or malformation of the midbrain and or hindbrain structures. It usually manifests during the early stages with nonspecific neurological symptoms that progress to involve multiple systems. Its presentation similarity to other neurological disorders makes the diagnosis difficult, hence causing a delay in treatment and worse prognosis due to complications. If undiagnosed during childhood, it often presents during adolescence with the most common complication of acute kidney injury due to nephronophthisis. Here, we present a case of JS in late adolescence with renal complications and other neurological abnormalities. We aim to emphasize the importance of its early diagnosis by physicians in childhood to prevent further complications. It also highlights the possible diagnostic value and significance of brain imaging in the early stages when only mild mental retardation signs may be the only clues.
 Genetics Neurology Psychiatry

Details

Metrics

3 Record Views
Logo image