Hallervorden-Spatz syndrome. Variable imaging findings.

Area of Science:

• Neurology
• Medical Imaging
• Genetics

Background:

• Hallervorden-Spatz syndrome (HSS) is a rare, progressive neurodegenerative disorder.
• Clinical manifestations include rigidity, dystonia, and cognitive decline.
• Genetic basis and specific imaging findings are crucial for diagnosis.

Purpose of the Study:

• To describe the clinical and neuroimaging features of four Egyptian boys with Hallervorden-Spatz syndrome.
• To highlight the characteristic MRI findings, specifically the "eye-of-the-tiger" sign.
• To discuss the association of basal ganglia calcification and explore management options.

Main Methods:

• Case series involving four Egyptian boys (three brothers and one sporadic case) diagnosed with HSS.
• Clinical assessment of neurological symptoms and disease progression.
• Neuroimaging analysis including CT scans and MRI, focusing on basal ganglia abnormalities.

Main Results:

• Patients presented around age 10 with rigidity, dystonia, dysarthria, and mental deterioration.
• MRI revealed the characteristic "eye-of-the-tiger" sign in the globus pallidus.
• CT scans showed bilateral symmetrical calcification of the basal ganglia in three brothers.

Conclusions:

• The described cases represent a potential atypical form of Hallervorden-Spatz syndrome.
• Basal ganglia calcification is an associated finding in these patients.
• Antioxidants, L-dopa, and Botulinum toxin injections were explored for management.