Acute generalised exanthematous pustulosis during fatal refractory shock in Bardet-Biedl syndrome: a complex multidrug reaction in a medically fragile child.

This case study describes what happened to a teenage girl with Bardet-Biedl syndrome who developed a severe skin reaction while being treated in the hospital. The girl already had several serious complications from BBS, including kidney failure, seizures, developmental delays, and heart problems. She was in intensive care because of seizures and a suspected infection. During her hospital stay, she was given three medications: phenobarbital (for seizures), amoxicillin-clavulanic acid, and ceftriaxone (both antibiotics for infection). Four days later, she developed a serious drug reaction called "acute generalized exanthematous pustulosis" - basically, her body broke out in fever and a widespread rash with small pus-filled bumps, especially in skin folds like armpits and groin. Blood tests showed signs of inflammation and very low platelet counts (cells that help blood clot). The doctors stopped the suspected medications and treated her skin condition, which did improve. However, this case shows how children with BBS can be particularly vulnerable to medication side effects due to their multiple health problems. Unfortunately, despite treatment, the girl's underlying infection worsened and she passed away from septic shock. This case highlights the challenges doctors face when treating medically fragile children with BBS, as they may be more prone to serious drug reactions while needing multiple medications for their various health conditions.

We report an adolescent girl with genetically confirmed Bardet-Biedl syndrome complicated by end-stage renal disease, epilepsy, psychomotor delay and cardiac anomalies. During intensive care for postictal coma and presumed sepsis, she received phenobarbital, amoxicillin-clavulanic acid and ceftriaxone. Four days after admission, she developed acute generalised exanthematous pustulosis, marked by febrile erythroderma with numerous sterile, non-follicular pustules predominantly involving major flexural areas. Laboratory findings showed neutrophilic leucocytosis, eosinophilia and profound thrombocytopenia, precluding skin biopsy. The clinical chronology, morphology and biological features supported a definite diagnosis, with a EuroSCAR score of 9. Suspected medications were withdrawn, pharmacovigilance reporting was performed and supportive dermatological care was initiated. The cutaneous eruption improved, with regression of pustules and residual desquamation; however, the patient deteriorated and died of refractory septic shock.