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Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A. Menkes disease is more common in males than in females. The disorder was first described by John Hans Menkes in 1962.

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Physical Examination:

  • Short, sparse, coarse, twisted

  • Shorter and sparser on the sides and back

  • Often lightly or abnormally pigmented; can be white, silver, or gray (In ethnic groups with black hair, the hair can also be blonde or brown.)

Abnormal facies include the following:

  • Jowly with sagging cheeks and ears

  • Depressed nasal bridge

  • High arched palate

  • Delayed tooth eruption

Progressive cerebral degeneration includes the following:

  • Loss of developmental milestones

  • Seizures

  • Profound truncal hypotonia with appendicular hypertonia

  • Temperature instability

Ocular manifestations include the following:

  • Ptosis

  • Visual inattention

  • Optic disc pallor with decreased pupillary responses to light

  • Iris hypoplasia and hypopigmentation

Connective-tissue abnormalities include the following:

  • Loose skin at the nape of the neck and over the trunk

  • Joint hypermobility

  • Polypoid masses, which can be multiple, in the gastrointestinal tract

  • Umbilical and inguinal hernias, which can be bilateral

  • Bladder diverticula (see the following image)

    Diverticula of the bladder in a boy with Menkes di
    Diverticula of the bladder in a boy with Menkes disease.
  • Dilated ureters

  • Emphysema

Vascular defects include the following:

  • Arterial rupture

  • Brachial, lumbar, and iliac artery aneurysms

  • Internal jugular vein aneurysms

  • Thrombosis

  • Pulmonary artery hypoplasia

Skeletal changes include the following:

  • Multiple congenital fractures, deformities (see the following image)

    The clavicles are short with hammer-shaped distal
    The clavicles are short with hammer-shaped distal ends in a patient with Menkes disease.
  • Osteoporosis

  • Metaphyseal spurring and widening (see the following image)

    Flared metaphyses of the ulna and radius in a 5-mo

    Flared metaphyses of the ulna and radius in a 5-month-old patient with classic Menkes disease.

  • Diaphyseal periosteal reaction

  • Scalloping of the posterior portion of the vertebral bodies

  • Pectus excavatum

  • Wormian bones

Bleeding diathesis and renal calculi are also noted.

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Diagnostic Considerations

Differential diagnosis for specific hair findings is as follows:

Trichorrhexis nodosa (ie, beaded, fractured hair shafts)

  • Biotin deficiency

  • Argininosuccinic aciduria – A urea cycle defect with elevated ammonia and argininosuccinic acids

  • Pollitt syndrome – Nonprogressive autosomal recessive disease with mental retardation, spasticity, and seizures

Pili torti (twisted hair shafts)

  • Isolated finding

  • Pollitt syndrome

  • A syndrome associated with dental abnormalities, corneal opacities, deafness, and ichthyosis

  • Autosomal dominant mental retardation and postpubertal pili torti

  • Citrullinemia – A urea cycle defect

  • Trichothiodystrophy – A defect of DNA repair with photosensitivity, ichthyosis, and mental retardation

  • In heterozygotes, possibly areas of hair with 30-50% pili torti or skin depigmentation

Other Problems to be Considered

  • Leigh disease

  • Phenylketonuria (PKU)

Differential Diagnoses

  • Non accidental trauma

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Diagnosis

Menkes syndrome can be diagnosed by blood tests of the copper and ceruloplasmin levels, skin biopsy, and optical microscopic examination of the hair to view characteristic Menkes abnormalities. X-rays of the skull and skeleton are conducted to look for abnormalities in bone formation. Urine homovanillic acid/vanillylmandelic acid ratio has been proposed as a screening tool to support earlier detection. Since 70% of MNK cases are inherited, genetic testing of the mother can be performed to search for a mutation in the ATP7A gene.

Treatment and prognosis

There is no cure for Menkes disease. Early treatment with injections of copper supplements (in the form of acetate salts) may be of some slight benefit. Among 12 newborns who were diagnosed with MNK, 92% were alive at age 4.6. Other treatment is symptomatic and supportive. Treatments to help relieve some of the symptoms includes, pain medication, anti-seizure medication, feeding tube when necessary, and physical and occupational therapy. The earlier treatment is given, the better the prognosis.

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