Menkes kinky hair syndrome: a case report

Area of Science:

• Genetics
• Neuroscience
• Biochemistry

Background:

• Menkes kinky hair syndrome (MKKS), or trichopoliodystrophy, is a rare X-linked recessive neurodegenerative disorder.
• It is characterized by psychomotor impairment, intractable seizures, and distinctive hair shaft abnormalities like pilli torti.
• The condition stems from mutations in copper-transporting genes, leading to impaired copper metabolism and deficiency in copper-dependent enzymes.

Observation:

• This report details a case of Menkes kinky hair syndrome with typical clinical, laboratory, and radiological findings.
• A significant observation in this case was the presence of marked macrocephaly, with head circumference above the 95th percentile for age.

Findings:

• Diagnosis was confirmed through characteristic clinical presentation, low plasma copper, and low ceruloplasmin levels.
• The patient exhibited progressive psychomotor delay, refractory seizures, and characteristic hair anomalies.

Implications:

• The association of Menkes kinky hair syndrome with significant macrocephaly is rare and warrants further investigation.
• This case underscores the importance of recognizing diverse clinical presentations of genetic disorders.
• Understanding such variations can aid in earlier diagnosis and potentially inform future research into genotype-phenotype correlations.