A child presented with anemia, kinky hair, intellectual disability and seizures. Which of the following is the most likely diagnosis?
a. Menkes disease(Ref: Nelson 20/e p 1849)Menke disease is a X-linked recessive multisystem disorder that mainly involves CNS & usually presents in early infancy. Scalp hair become hypopigmented, sparse, short, and brittle. Hair microscopy reveals pili torti (twisted hair) & trichorrhexis nodosa (fractures of the hair shaft at regular intervals).
Menkes disease
Down syndrome
Iron deficiency anemia
Lesch Nyhan syndrome
Inborn Errors of Metabolism