Cystinosis is a rare autosomal recessive lysosomal storage disorder with an incidence of approximately 1 in 100,000 to 200,000 live births. It is the most common cause of inherited pediatric Fanconi syndrome (FS). Here, we describe the cases of two infants from unrelated families who presented with polyuria and features of proximal renal tubular dysfunction. Although no corneal cystine deposition was observed at presentation, clinical suspicion and genetic analysis confirmed the diagnosis of nephropathic cystinosis. Both patients carried the same pathogenic variant in the CTNS gene, suggesting that it is a hotspot in this region. These patients were managed with oral cysteamine therapy, cysteamine eye drops, and supportive therapy for FS and are currently doing well. Genetic diagnosis plays a crucial role in the early detection of cystinosis, facilitating timely initiation of cysteamine therapy, and should be considered in infants with FS.

Term, live abdominal pregnancy secondary to rupture of a uterine rudimentary horn is a rare condition. Pregnancies conceived in the rudimentary horn of the uterus usually rupture during early gestation and present as a catastrophic event. However, rarely, after rupture of the uterine horn the foetus may continue to grow in the abdominal cavity and reach term gestation. A primigravida with a term pregnancy was referred to our centre for caesarean section with ultrasonography findings of transverse lie and placenta previa. During surgery, a live baby was extracted from the abdominal cavity, revealing a bicornuate uterus with rupture of the rudimentary horn. The early peroperative diagnosis and prompt control of the bleeding with excision of the rudimentary horn and transfusion of multiple blood products saved the patient’s life. The case is presented for its rarity and to highlight the importance of a high index of suspicion in cases presenting with abnormal foetal presentation.