Hunter' syndrome. Ultrastructural features in young children

Area of Science:

• Cellular Biology
• Neuropathology
• Genetics

Background:

• Hunter syndrome (Mucopolysaccharidosis II) is a rare genetic disorder caused by deficiency of the enzyme iduronate-2-sulfatase.
• It leads to the accumulation of glycosaminoglycans in various tissues, causing progressive multi-systemic disease.

Observation:

• This study investigated ultrastructural changes in tissues from two young stepbrothers diagnosed with Hunter syndrome.
• Tissues examined included cortical neurons, myenteric plexus neurons, and skin.
• Abnormal cellular inclusions were noted in most examined tissues.

Findings:

• Ultrastructural abnormalities were identified in cortical neurons, myenteric plexus neurons, and skin.
• Inclusions with minimal electron-dense material were prevalent across most tissues.
• Unique lamellar figures were specifically observed within cortical neurons and myenteric plexus neurons.

Implications:

• These findings highlight specific cellular alterations in Hunter syndrome, particularly in neural and gastrointestinal tissues.
• The observed ultrastructural changes correlate with previously reported post-mortem findings.
• Understanding these cellular pathologies can aid in diagnosing and potentially treating Hunter syndrome.