Brain perfusion SPECT abnormalities in neuronal ceroid lipofuscinoses

Area of Science:

• Neurology
• Nuclear Medicine
• Neuroimaging

Background:

• Neuronal Ceroid Lipofuscinoses (NCLs) are a group of rare, inherited neurodegenerative disorders.
• Early diagnosis of NCLs is challenging due to subtle initial symptoms and the need for advanced imaging techniques.

Purpose of the Study:

• To investigate and compare brain perfusion patterns in different subtypes of NCLs using SPECT.
• To determine if SPECT can detect hypoperfusion before structural abnormalities are evident on MRI or CT.

Main Methods:

• Single-photon emission computed tomography (SPECT) using Technetium-99m-labeled hexamethylpropyleneamine oxime (Tc-99m-HMPAO) was performed.
• The study included patients with Infantile Neuronal Ceroid Lipofuscinosis (INCL), Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), and Jansky-Bielschowsky variant disease (JBVD).
• SPECT findings were correlated with Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) scans.

Main Results:

• Early INCL stages showed bilateral frontal, temporoparietal, and occipital hypoperfusion; cerebellar hypoperfusion appeared later.
• Basal ganglia and thalami perfusion remained preserved even with atrophy in INCL.
• JNCL patients exhibited hypoperfusion, primarily in parietal, occipital, and temporal lobes, with SPECT detecting lesions missed by CT.
• Jansky-Bielschowsky variant disease patients presented with widespread supra- and infratentorial hypoperfusion.

Conclusions:

• Brain hypoperfusion, detectable by SPECT, can precede structural changes seen on MRI or CT in NCLs.
• SPECT imaging is valuable for detecting early functional brain alterations in various NCL subtypes.
• The pattern of hypoperfusion varies among NCL subtypes, potentially aiding in differential diagnosis.