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13 Cards in this Set

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Clinical Menke's Syndrome
Synonym
Menkes Kinky hair syndrome

Occipital Horn Syndrome
Inheritance
X linked recessive; MKN or ATP7A gene on Xq 13
Prenatal
DNA analysis

Amniocentesis/ (CVS) increased incorporation of copper in cultured amniotic fluid cells
Incidence
1:35,000 in Australia, 1:300,000 in Europe; males only; approximately 90% with classic, severe form, 10% with milder OHS
Age at Presentation
First few months of life
Pathogenesis
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
Clinical
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
Clinical
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
D/Dx
Battered child syndrome
Argininosuccinic aciduria (p. 278)
Bjbrnstad syndrome (p. 276)
Lab
Serum copper, ceruloplasmin levels

DNA analysis
Management
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
Prognosis
Progressive deterioration with death by 2 3 years of age associated with pneumonia