Bombay blood group is a rare blood group. Due to its rarity and limitations for transfusions, it is often challenging to manage individuals with Bombay groups in emergencies. Here, we present a case of a 26-year-old woman with the Bombay blood group who had premature rupture of membranes at the 39th week of pregnancy while delivering a male child vaginally. The patient suffered from postpartum hemorrhage due to retention of the placenta and needed an immediate blood transfusion. During the antenatal screening, she was noted to have the Opositive blood group. Cross-matching of her blood was incompatible with O-positive blood and was identified as the Bombay blood group after having tested for anti-H antibodies. The patient underwent transfusion by identifying individuals with the O-positive Bombay blood group. As a result of this, we emphasize the diagnosis and identification of the individuals with the Bombay blood group and make blood available especially in medical emergencies.
Joubert syndrome (JS) is a rare genetic ciliopathy characterized by the aplasia or malformation of the midbrain and or hindbrain structures. It usually manifests during the early stages with nonspecific neurological symptoms that progress to involve multiple systems. Its presentation similarity to other neurological disorders makes the diagnosis difficult, hence causing a delay in treatment and worse prognosis due to complications. If undiagnosed during childhood, it often presents during adolescence with the most common complication of acute kidney injury due to nephronophthisis. Here, we present a case of JS in late adolescence with renal complications and other neurological abnormalities. We aim to emphasize the importance of its early diagnosis by physicians in childhood to prevent further complications. It also highlights the possible diagnostic value and significance of brain imaging in the early stages when only mild mental retardation signs may be the only clues.
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