Welcome to this week's mystery diagnosis! Congratulations to those who correctly diagnosed our previous patient, Ivan, with a case of Kennedy's Disease. Kennedy's disease is a genetic disorder passed down on the X-chromosome. Because women have two X chromosomes, as long as they have one copy of a normal chromosome, they should not develop the disease. Men, however, only have one X chromosome, so if a mother passes a faulty chromosome onto her son he will be afflicted.

As mentioned in last week's article, Ivan was adopted, so we had no family medical history of which to go off. His symptoms, though, are clearly in line with Kennedy's disease: the onset of this severe neuromuscular disorder usually occurs between the ages of 30 and 50-- and Ivan was 35. The disease can affect both androgen receptors, leaving testosterone as almost a toxin to the body, and is widely known to cause muscle cramps and spasms, such as those Ivan experienced on his drives to New Jersey, as well as atrophy of the arm and leg muscles, on which his mother commented.

While medicine is not yet advanced enough to provide techniques for regeneration of motor neurons in Ivan's body, medications are prescribed to reduce his spasms, and careful stretching, aerobic exercise, and physiotherapy are also helpful.

This week's case surrounds an infant named Anna, a tiny baby born six weeks early. Her birth was very surprising: Anna's mother unexpectedly went into labor on her flight home from the Dominican Republic, where she was visiting her extended family (with assurance from her physician that it was safe to travel by plane). The airline was as accommodating as possible, and the plane landed early, in Florida, so that Anna's mother could be rushed to a hospital. She arrived just in time to deliver Anna, but the baby was quickly whisked away to the neonatal intensive care unit (NICU).

Not long after, a doctor approached Anna's mother to discuss the details of the plan to care for Anna. Born at 34 weeks, Anna's premie status left her much smaller than most infants and susceptible to many more diseases. Moreover, Anna was anemic, likely due to her prematurity. She is in desperate need of a blood transfusion, and Anna's mother quickly volunteers to provide her own, ensuring a match.

Initially, Anna seemed to be doing well in the NICU, but has recently begun developing symptoms that are difficult to separate from typical premie attributes. For example, while many attempts have been made to feed Anna, nutrients continue to be supplied intravenously, as she lacks appetite. Additionally, despite the carefully controlled environment of her incubator, Anna is feverish, her lymph nodes are swollen, and she seems to have some sort of swelling and purple bruising on one of her eyelids. Her heartbeat, which is carefully monitored 24/7 in the NICU, seems erratic at times, and though she is weak, Anna cries frequently throughout the day, as if in pain.

Now it's your turn: Leave a comment guessing the patient’s diagnosis! If you have any questions, perhaps about the results from a test you as a doctor would run on the patient, feel free to pose those as well and I will answer to the best of my ability. I will not be replying to guesses about the diagnosis—only to questions about test results not listed here. Best of luck!