This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: Inborn Errors of Metabolism, Subject name: Pediatrics
A child presented with anemia, kinky hair, intellectual disability and seizures. Which of the following is the most likely diagnosis? 
Select and explain. 
A. Menkes disease, B. Down syndrome, C. Iron deficiency anemia, D. Lesch Nyhan syndrome
A: Menkes disease
Answer: A: Menkes disease 
Explanation: 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).