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Question: Syndromes

You are seeing a 6 year old girl who comes in for right leg pain after a ground level fall at the park. She is currently being worked up by her pediatrician for precocious puberty, including vaginal spotting and breast buds. On exam, her temp is 37.5, HR 90, RR 22, pulse ox 100% on room air. Her face appears asymmetric. Heart and lung exam is normal. Abdomen is soft, and you do not palpate any masses. Her right leg shows no swelling, obvious deformity, or neurovascular compromise, but she is tender to palpation along her anterior tibia. She has a large light brown irregularly shaped macule on her back. 

What syndrome / disease do you suspect?

pemsou5_wp • August 15, 2023

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  1. Kelly August 22, 2023 - 10:00 pm Reply

    E) McCune-Albright Syndrome
    McCune-Albright syndrome is characterized by precocious puberty, large café-au-lait “Coast of Maine” spots, and fibrous dysplasia of bones. Facial bones can be affected, resulting in asymmetry. The syndrome is also sometimes associated with hyperthyroidism, Cushing syndrome, and/or acromegaly. Osteogenesis imperfecta includes bone fragility, but no café-au-lait spots or precocious puberty. Tuberous sclerosis can result in skin findings such as ash leaf spots and tubers (benign tumors) that can grow in multiple locations, but not usually bone. Addison’s disease is adrenal insufficiency and may present with a more diffuse hyperpigmentation, accentuated in sun-exposed and pressure areas.

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