Menkes Disease Differential Diagnoses

Updated: Dec 10, 2019
  • Author: Celia H Chang, MD; Chief Editor: Amy Kao, MD  more...
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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 intellectual disability, 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 intellectual disability and postpubertal pili torti

  • Citrullinemia - A urea cycle defect

  • Trichothiodystrophy - A defect of DNA repair with photosensitivity, ichthyosis, and intellectual disability

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

Myeloneuropathy due to copper deficiency [17]

  • Copper deficiency after gastric bypass surgery

  • Excessive zinc ingestion

Other problems to be considered

  • Leigh disease

  • Phenylketonuria (PKU)

Differential Diagnoses

  • Non accidental trauma