MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis

Area of Science:

• Neuroscience
• Genetics
• Biochemistry

Background:

• Infantile neuronal ceroid lipofuscinosis (INCL) is a fatal neurodegenerative disease.
• It results from palmitoyl-protein thioesterase 1 deficiency, impairing protein degradation and causing ceroid accumulation.
• This accumulation leads to neuronal injury, neurodegeneration, and early death.

Purpose of the Study:

• To quantify serial brain volumes in patients with infantile neuronal ceroid lipofuscinosis.
• To establish a quantitative reference for evaluating therapeutic interventions for INCL.
• To assess brain volume changes in patients undergoing treatment with cysteamine bitartrate and N-acetyl cysteine.

Main Methods:

• Ten INCL patients underwent high-resolution T1-weighted brain MR imaging.
• Total brain volume was calculated using a maximum-likelihood classifier after manual brain surface delineation.
• Brain volumes were compared to a healthy population, with subdivisions including cerebrum, cerebellum, brain stem, and thalamus.

Main Results:

• The cerebrum showed early and rapid volume loss, potentially absent from birth.
• Thalamus volume dropped below normal around 6 months.
• Cerebellum and brain stem volumes decreased significantly around 2 and 3 years of age, respectively.

Conclusions:

• The study provides quantitative data on brain volume loss in INCL.
• The observed rapid cerebral volume loss aligns with previous qualitative findings.
• This detailed quantitative data serves as a crucial reference for future infantile neuronal ceroid lipofuscinosis treatment trials.