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Related Experiment Video

Updated: Jul 12, 2026

Clinical Imaging of Microwave Mammography

Clinical Imaging of Microwave Mammography

Published on: November 14, 2025

Clinics in diagnostic imaging (118).

S Subramanian¹, S Hari, S Santosh Kumar

¹Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India. drsubbusmc@yahoo.co.in

Singapore Medical Journal

|August 31, 2007

Summary

Joubert syndrome is a rare genetic disorder diagnosed in an 18-month-old boy presenting with developmental delays and neurological symptoms. Characteristic brain MRI findings, including the molar tooth sign, confirmed the diagnosis.

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Area of Science:

Pediatric Neurology
Neuroimaging
Genetic Disorders

Background:

Joubert syndrome is a rare autosomal recessive ciliopathy characterized by a distinctive brainstem malformation.
It presents with a wide spectrum of clinical manifestations, including developmental delay, hypotonia, and ataxia.

Observation:

An 18-month-old boy exhibited delayed milestones, hypotonia, strabismus, and a seizure episode.
Brain magnetic resonance (MR) imaging was performed to investigate the neurological symptoms.

Findings:

MR imaging revealed characteristic features of Joubert syndrome, including abnormally oriented and thickened superior cerebellar peduncles (molar tooth sign).
Additional findings included a thinned isthmus, widened interpeduncular cistern, and hypoplastic vermis, consistent with the diagnosis.

Implications:

Early diagnosis of Joubert syndrome through clinical and neuroimaging findings is crucial for timely management and genetic counseling.
Understanding the specific neuroanatomical abnormalities aids in predicting clinical outcomes and potential complications.