Menke's Syndrome

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Clinical Menke's Syndrome

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Synonym

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Menkes Kinky hair syndrome

Occipital Horn Syndrome

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Inheritance

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X linked recessive; MKN or ATP7A gene on Xq 13

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Prenatal

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DNA analysis

Amniocentesis/ (CVS) increased incorporation of copper in cultured amniotic fluid cells

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Incidence

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1:35,000 in Australia, 1:300,000 in Europe; males only; approximately 90% with classic, severe form, 10% with milder OHS

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Age at Presentation

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First few months of life

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Pathogenesis

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Mutations in MKN or ATP7A, a gene encoding the copper binding enzyme adenosine triphosphatase (ATPase), leads to defective copper transport and metabolism with subsequent low levels of serum copper; phenotype reflects deficiency of copper-dependent enzyme activity in various systems

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Clinical

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Hair
Pili torti most common; trichorrhexis nodosa, monilethrix described; hypopigmented, sparse, short, brittle, "steel wool" quality; sparse, broken horizontal eyebrows; sparse eyelashes

Skin
Hypopigmented, "doughy" consistency with laxity, pudgy cheeks, Cupid's bow upper lip

Central Nervous System Progressive deterioration with lethargy, seizures, mental and motor retardation, hyp.ertonia, hypothermia

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Clinical

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Musculoskeletal
Failure to thrive, frontal bossing, wormian bones in sagittal and lambdoid sutures, metaphyseal widening with spurs in long bones, fractures

OHS: occipital horns (exostosis at insertion of trapezius and sternocleidomastoid muscles), abnormal facies, short flat clavicles, elbow deformities secondary to radial subluxation

Cardiovascular
Tortuous arteries (especially brain)

Genitourinary
Variety of anomalies

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D/Dx

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Battered child syndrome
Argininosuccinic aciduria (p. 278)
Bjbrnstad syndrome (p. 276)

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Lab

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Serum copper, ceruloplasmin levels

DNA analysis

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Management

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Parenteral copper histidine if initiated first 8 weeks of life may be of benefit

Antiseizure medications, pamidronate has been helpful in preventing fractures in one study

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Prognosis

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Progressive deterioration with death by 2 3 years of age associated with pneumonia