Spine in Hurler Syndrome, X-ray
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Spine in Hurler Syndrome, X-ray
Spine in Hurler Syndrome. Coloured X-ray of the spine of a 26-month-old child with Hurler syndrome (also called mucopolysaccharidosis type I, MPS I). This is a rare, inherited disorder that affects 1 in 115, 000 people. Hurler syndrome is caused by a defective enzyme that is unable to break down glycosaminoglycans (mucopolysaccharides). Glycosaminoglycans are large molecules normally found in the fluid lubricating the joints. If they are not broken down by the enzyme when entering the cells, they cause permanent cell damage that progressively hinders physical development, organ functioning and causes mental retardation. There is no known cure and individuals rarely live past the age of 10
Science Photo Library features Science and Medical images including photos and illustrations
Media ID 6324405
© ZEPHYR/SCIENCE PHOTO LIBRARY
Abnormality Accumulation Back Back Bone Bones Child Colored Deformed Deformity Diagnosis Diagnostic Imaging Diseased Genetic Inherited Joint Joints Orthopaedic Orthopaedics Orthopedic Orthopedics Osteological Osteology Paediatric Paediatrics Patient Pediatric Pediatrics Profile Radiography Radiological Radiology Rheumatic Rheumatology Spinal Toddler Vertebra Vertebral X Ray X Ray Machine Abnormal Condition Disorder False Coloured Genetics Health Care Mono Chrome Unhealthy Vertebrae
EDITORS COMMENTS
This print showcases the spine of a 26-month-old child affected by Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I). This rare and inherited disorder affects only 1 in every 115,000 people. The condition arises from a defective enzyme that fails to break down glycosaminoglycans, large molecules found in joint lubricating fluid. The consequences of this enzyme deficiency are devastating. As these molecules accumulate within cells instead of being broken down, they cause irreversible damage to cells throughout the body. This progressive cell damage impedes physical development, compromises organ function, and leads to mental retardation. Tragically, individuals with Hurler syndrome rarely live past the age of ten. This colored X-ray image provides valuable insight into the deformities caused by Hurler syndrome on the spinal vertebrae. It highlights how this genetic disorder can drastically alter the structure and health of an individual's backbone at such a young age. While there is currently no known cure for Hurler syndrome, medical professionals continue their tireless efforts to find treatments or interventions that may improve patients' quality of life. This poignant image serves as a reminder of both the challenges faced by those living with rare diseases like Hurler syndrome and the ongoing quest for advancements in pediatric healthcare and genetics research.
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