A child with kinky hair, intellectual disability, seizures. What is the diagnosis?: (A) Down's syndrome, (B) Menke's disease, (C) Iron deficiency anemia, (D) Lesch Nyhan syndrome
Answer is B. Ans. B. Menke's DiseaseMenke's (Kinky or Steely) Hair SyndromeMutation in ATP7A geneX-linked recessive conditionDefective Copper binding P type ATPaseCopper is not mobilised from Intestine.Deficiency of Xanthine oxidase.