A child presented with anemia, kinky hair, intellectual disability and seizures. Which of the following is the most likely diagnosis?
Menkes disease
Down syndrome
Iron deficiency anemia
Lesch Nyhan syndrome
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).
Inborn Errors of Metabolism