Menkes's steely hair syndrome

Area of Science:

• Genetics
• Pediatrics
• Neurology

Background:

• Menkes syndrome is a rare X-linked genetic disorder.
• It is characterized by copper transport defects, leading to neurological and connective tissue abnormalities.

Observation:

• Three unrelated patients with Menkes syndrome presented with unique urinary tract abnormalities.
• These included hydronephrosis, hydroureter, and bladder diverticula without evidence of organic obstruction.

Findings:

• The urinary tract changes are hypothesized to result from disturbed autonomic innervation.
• Parenteral copper therapy did not yield significant clinical improvement in any of the patients.
• Post-mortem examinations revealed vascular abnormalities, including aneurysms in both arteries and veins, and a gastric polyp in one case.

Implications:

• This study highlights potential non-neurological manifestations of Menkes syndrome.
• It suggests that urinary tract abnormalities in Menkes syndrome may stem from neurocristopathy affecting innervation.
• Further research is needed to explore the pathogenesis and potential therapeutic targets for these complications.