A 20-month-old previously healthy male presents to primary care with a history of a few weeks of bruising noted by the parents on the extremities, which are appearing without significant trauma. He has not had any gingival bleeding or epistaxis, and no blood has been noted in his diapers. He presents today because of a red, pinpoint rash in his diaper creases and belly that has been spreading. The rash is petechial and most pronounced in the inguinal region, but also along the diaper line at the waist and more diffusely throughout the body.
He has had no fevers, no weight loss, no change in appetite or activity. Physical exam is remarkable for the lack of other findings beyond the bruising, particularly of the extremities with some raised bruises of the anterior lower extremities and diffuse petechiae. He has no lymphadenopathy or hepatosplenomegaly. There is no family history of any bleeding.
What is the diagnosis?
No one submitted the correct answer to last issue’s challenge. The correct answer was ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation), the subject of this issue’s cover story.