A Unique Association of Osteogenesis Imperfecta with Bilateral Renal Osteodystrophy and Gastroenteritis in a Three-year-old Boy

We describe a three-year-old male child who presented to the pediatrics out-patient department with a history of decrease in appetite, generalized weakness, on and off loose motions for one year, inability to walk and sit for eight months with a loss of neck holding for 14 days. On examination, the patient had a classic frog-shaped leg posture. X-rays of chest, skull, pelvis and long bones were performed which showed osteopenic bones, frontal bossing and multiple microfractures, which were classic for osteogenesis Imperfecta but the child did not have other salient features such as blue sclera, otosclerosis, and respiratory difficulty. The patient also had urinary complaints due to which ultrasound of kidney ureters and bladder (KUB) was performed, which showed bilateral renal calculi and grade 2 renal parenchymal changes. This case report illustrates the evaluation of the child with osteogenesis imperfecta, as well as the unique association of renal osteodystrophy and gastroenteritis with it.