Genetics
A 10-month old male infant with hypercalcemia
Case Source The below case was abstracted from the July 10th, 2024 edition of Case Records of the Massachusetts General Hospital from the New England Journal of Medicine. N Engl J Med 2024;391:167-176 Patient Presentation A 10-month old male patient presented to the hospital with vomiting, increased thirst and failure to thrive. He had been previously healthy until […]
A 58 year-old woman with confusion and aphasia
In this case, we are presented with a previously well woman with the sub-acute development of neurologic abnormalities among other seemingly unrelated clinical findings for which a unifying diagnosis required multiple hospitalizations and expert consultation to discover. It was not until after she had undergone multiple rounds of immunosuppressive therapies that a unifying genetic diagnosis was identified.
Cohen syndrome
Washington Post “Medical Mysteries” article “A tiny baby who didn’t grow”. The case: A 7 year old girl born with low weight, floppiness and weak cry.