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Related Concept Videos

Radiological Investigation III: Pulmonary Angiogram and PET Scan01:13

Radiological Investigation III: Pulmonary Angiogram and PET Scan

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Radiological investigations are paramount in the diagnosis and management of various pulmonary diseases. Two essential investigations are the Pulmonary Angiogram and the Positron Emission Tomography (PET) Scan.
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Radiological Investigation II: MRI and Ventilation Perfusion Scan01:30

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Description
Magnetic Resonance Imaging (MRI) and Ventilation Perfusion Scans are two radiological investigations that offer detailed diagnostic images of the body, particularly lung structures.
MRI
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Radiological Investigation I: X-ray and CT01:30

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Radiological investigations, including X-rays and computed tomography (CT) scans, are critical for diagnosing and evaluating various medical conditions. These imaging techniques provide valuable insights into the body's internal structures, aiding in the detection of abnormalities, assessment of disease progression, and development of treatment strategies. This article delves into two primary radiological investigations, chest X-rays and CT scans, outlining their purpose, procedures, and...
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Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
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Imaging Studies III: Computed Tomography01:27

Imaging Studies III: Computed Tomography

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DefinitionComputed Tomography (CT) of the genitourinary (GU) tract is a non-invasive imaging modality that utilizes X-rays and computer processing to generate detailed cross-sectional images of the urinary system, encompassing the kidneys, ureters, bladder, and adjacent structures such as the adrenal glands.PurposeCT scans of the GU tract serve several diagnostic and therapeutic purposes, including:Diagnosis of Urinary Tract Diseases: Detects kidney stones, tumors, cysts, and congenital...
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Positron Emission Tomography (PET) is a medical imaging technique that provides crucial insights into the body's physiological functions at a molecular level. It is an indispensable resource for diagnosing, staging, and monitoring various illnesses, notably cancer, neurological disorders, and cardiovascular conditions.
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Related Experiment Video

Updated: Dec 29, 2025

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Joubert Syndrome: A Rare Radiological Case.

Ali Akhtar1, Syed Adeel Hassan2, Noor Ul Falah3

  • 1Internal Medicine, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.

Cureus
|January 29, 2020
PubMed
Summary

Joubert syndrome is a rare neurodevelopmental disorder. This case highlights a 4-year-old boy with typical Joubert syndrome features, excluding abnormal breathing patterns, confirmed by MRI.

Keywords:
batwing configurationdelayed milestonesinfantile hypotoniajoubert syndromemolar tooth appearanceoculomotor dysfunction

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Joubert syndrome is a rare autosomal recessive neurodevelopmental disorder.
  • It is characterized by specific clinical features including hypotonia, ataxia, and developmental delay.
  • Typical cases often present with episodic tachypnea/apnea.

Observation:

  • A 4-year-old boy presented with global developmental delay, bilateral nystagmus, gaze instability, and gait ataxia.
  • Facial dysmorphic features included a depressed nasal bridge and deepened orbital sockets.
  • Neurological examination revealed hypotonia, ataxia, nystagmus, and ptosis.

Findings:

  • The patient exhibited key neurological signs of Joubert syndrome, including hypotonia and ataxia.
  • Characteristic neuroimaging findings of the molar tooth sign and a batwing appearance of the fourth ventricle were observed.
  • Notably, the typical episodic tachypnea/apnea associated with Joubert syndrome was absent in this case.

Implications:

  • This case expands the clinical spectrum of Joubert syndrome, emphasizing variability in presentation.
  • It underscores the importance of neuroimaging for diagnosis, even in the absence of classic respiratory symptoms.
  • Further research into genotype-phenotype correlations is needed to understand the diverse manifestations of Joubert syndrome.