PhotoQuiz 72

Please submit your response to this link: https://forms.gle/RsDw5jYGLYzC8u7v9 A 5-year-old child from a nonconsanguineous Asian Indian family presented with persistent, refractory anemia. There was no history of bone pain. His hemoglobin levels ranged between 5–6 g/dL despite regular iron supplementation and he had required blood transfusions in the past. Routine investigations ruled out infectious and autoimmune causes, as well as beta-thalassemia. Bone marrow aspirate was suggestive of a hypocellular marrow. A skeletal survey was subsequently performed, and the radiographs are attached. Although this condition can mimic other sclerosing bone dysplasia, its most defining feature is its dramatic and life-altering response to a specific, widely available class of medication. What is the diagnosis and which commonly used drug can eliminate this patient’s need for blood transfusions?Answer to PhotoQuiz 71 Osteoporosis-pseudoglioma syndrome (OMIM # 603506) Osteoporosis-pseudoglioma syndrome is characterized by severe osteoporosis and defective regression of the fetal ocular fibrovascular system (pseudoglioma), leading to early-onset blindness. Juvenile-onset osteoporosis manifests as long-bone fractures, vertebral compression fractures, kyphoscoliosis, deformity of extremities, and short stature. There are associated vitreoretinal abnormalities, absent anterior chamber, or phthisis bulbi. This disorder is caused by biallelic loss-of-function variants in the gene encoding low-density lipoprotein receptor-related protein 5. Correct responses for PhotoQuiz 71 were given by: Dr. Poonam Gambhir, Vardaan Genetic and Diagnostic Center, Kanpur, India Dr. Preveen S, Government Headquarters Hospital, Kumbakonam, Thanjavur, India Dr. Vibha Jain, Anuvanshiki – the Genetic Center, Ghaziabad, India Dr. Tanuja Rajial, All India Institute of Medical Sciences (AIIMS), Jodhpur, India Dr. Adarsha Naik, Sanjay Gandhi Postgraduate Institute of Medical Sciences (, Lucknow, India Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.