Pediatric Interesting Case


Present Illness

A 16 year-old female with Bardet-Biedl syndrome (formerly known as Laurence-Moon-Biedl) complains of severe left-sided chest pain. She has no shortness of breath or fever. She is 2 months post renal transplant due to medullary cystic renal disease. She has had multiple complications from the transplant and the medicines. She has visual problems and mental retardation associated with her syndrome. She has had tachycardia in the past, and was due for EPS, but did not go due to a respiratory infection.

Past History

As above, plus she had a balloon valvuloplasty for aortic stenosis.

Medications and Allergies

Imuran, Cyclosporin, prednisone, Procardia, Acyclovir, and Bactrim. No known allergies.

Physical Exam

Appearance: VS Temp 37.4C, HR 174, RR 30, BP 138/95 She appears uncomfortable, non-obese, but well developed and well nourished.
HEENT: neck supple, no JVD, anicteric
Lungs: clear bilaterally
Heart: tachy regular rhythm, harsh III/VI murmur at RUSB, no rubs, palpable thrill at the sternal notch.
Abdomen: soft, nontender, with a well healed surgical wound.
Extremities: pulses 2+ in all extremities. Stumps from bilaterally amputated extra digits.
Neuro: awake, alert and grossly intact.




What do you think?