RESUMEN
Bernard-Soulier syndrome (BSS) is caused by defects in GP1BA, GP1BB, or GP9 genes. Patients with 22q11.2 deletion syndrome (22q11.2DS) are obligate carriers of BSS because GP1BB resides on chromosome 22q11.2. A 15-month-old girl without bleeding symptoms had giant platelets and thrombocytopenia. Physical findings and macrothrombocytopenia suggested 22q11.2DS, which was confirmed by fluorescence in situ hybridization. Flow cytometry showed decreased GPIbα on the platelets. Gene panel testing revealed a novel variant in GP1BB, p.(Val169_Leu172del). These findings confirmed that the patient had BSS. This case suggests that any patient with 22q11.2DS and macrothrombocytopenia should be further tested for BSS.
Asunto(s)
Síndrome de Bernard-Soulier , Complejo GPIb-IX de Glicoproteína Plaquetaria , Humanos , Síndrome de Bernard-Soulier/genética , Síndrome de Bernard-Soulier/diagnóstico , Femenino , Complejo GPIb-IX de Glicoproteína Plaquetaria/genética , Lactante , Cromosomas Humanos Par 22/genética , Plaquetas/metabolismo , Plaquetas/patología , Trombocitopenia/genética , Trombocitopenia/diagnóstico , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/complicaciones , Deleción CromosómicaRESUMEN
We report the case of a patient with osteogenesis imperfecta (OI) who developed pulmonary hemorrhage 4 d after pamidronate disodium (PA) administration, despite a relatively stable respiratory status. Bisphosphonates are introduced to reduce osteoclast activity and are now widely used in patients with OI. Bisphosphonates are typically well-tolerated in children, and the standard of care involves cyclic intravenous administration of PA. However, in practice, there is limited experience with the use of PA for severe OI during the neonatal period, and its safety remains uncertain. This report aimed to describe the respiratory events potentially associated with PA in a neonatal patient with OI type 2, suggesting that serious life-threatening complications of pulmonary hemorrhage may occur after PA administration. Further studies are required to assess the relationship between pulmonary hemorrhage and PA administration, aiming to enhance prophylaxis measures.