A 2-year-old male has developmental delay kinke hair and weak muscle tone. What is the diagnosis?
Correct Answer: Menkes disease
Description: ANS. BMenkes disease, also known as Menkes syndrome, is an X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency (ATB 7A gene on chromosome 13).Signs and symptoms of this disorder include:1. Weak muscle tone (hypotonia)2. Sagging facial features3. Seizures4. Intellectual disability and developmental delay5. Brittle hair6. Metaphyseal widening.Menkes diseaseImage of zinc deficiency (acrodermatitis enteropathica)
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