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Rickets
A. Carlson Merrow, Jr., MD, FAAP
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Failure to mineralize cartilage & osteoid at growth plates (physes) of immature skeleton in setting of low ion concentrations
                • Initial deficiency may be considered as calcipenic or phosphopenic
                • Lack of phosphate becomes ultimate problem
                  • Underlying factor in all rickets: Failed apoptosis of hypertrophic chondrocytes
                    • Key enzyme (caspase-9) dependent on phosphorylation
                    • Failure of apoptosis disrupts endochondral ossification
              • Most common cause: Nutritional vitamin D deficiency
                • ↓ dietary vitamin D &/or ↓ exposure to sunlight
                • Primary calcium deficiency uncommon
              • Many other causes, including
                • Prematurity
                  • < 28 weeks gestational age, birth weight < 1,000 g
                  • 80% of fetal bone mineralization occurs in 3rd trimester
                    • Typical neonatal nutrition not sufficient
                    • Exacerbated by medications used for chronic lung disease of prematurity, including steroids & calcium-excreting diuretics
                  • Radiologic rickets in up to 55%; may be detected initially at proximal humeri on chest radiographs
                • Prenatal factors
                  • Maternal medical problems resulting in severe vitamin D deficiency
                • Liver disease: ↓ formation of 25-hydroxy vitamin D; unconjugated bilirubin interferes with osteoblasts
                  • Chronic liver disease
                    • Biliary atresia, total parenteral nutrition, tyrosinemia
                  • Anticonvulsant therapy
                    • Phenytoin, phenobarbital activate P-450 cytochrome oxidase → ↑ degradation of 25-hydroxy vitamin D
                • Malabsorption: Binding with malabsorbed fatty acids → ↓ calcium & vitamin D absorption
                  • Celiac disease, inflammatory bowel disease, pancreatic insufficiency
                • Hereditary hypophosphatemia: ↑ FGF-23 signaling
                • Renal tubular disorders: Various impairments of renal tubular resorption of phosphate & 1-α-hydroxylation of 25-hydroxy vitamin D
                  • Vitamin D-resistant rickets
                    • Familial hypophosphatemic rickets
                    • X-linked hypophosphatemic rickets
                  • Fanconi syndrome
                    • Nephrotic-glucosuric dwarfism + hypophosphatemic rickets
                  • Lowe (oculocerebrorenal) syndrome
                    • Cataracts, glaucoma, severe mental retardation
                  • Cystine storage disease
                  • Chemotherapy: Ifosfamide renal-tubule toxicity
                • Oncogenic rickets: Rare paraneoplastic syndrome
                  • Nonossifying fibroma
                  • Hemangiopericytoma
                  • Osteoblastoma
                  • Linear sebaceous nevus syndrome
                • Chronic renal disease: Renal osteodystrophy with secondary hyperparathyroidism
                  • ↓ glomerular function → phosphorus retention → hypocalcemia
                  • Tubular dysfunction → ↓ synthesis of 1,25-dihydroxy vitamin D → hypocalcemia
                  • Hypocalcemia → hyperparathyroidism

            IMAGING

            • General Features

              • Radiographic Findings

                • MR Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Servaes S et al: The etiology and significance of fractures in infants and young children: a critical multidisciplinary review. Pediatr Radiol. 46(5):591-600, 2016
                                  2. Elder CJ et al: Rickets. Lancet. 383(9929):1665-76, 2014
                                  3. Kemper MJ et al: Renal osteodystrophy in children: pathogenesis, diagnosis and treatment. Curr Opin Pediatr. 26(2):180-6, 2014
                                  4. Shore RM et al: Rickets: part I. Pediatr Radiol. 43(2):140-51, 2013
                                  5. Shore RM et al: Rickets: part II. Pediatr Radiol. 43(2):152-72, 2013
                                  6. Clarke NM et al: Vitamin D deficiency: a paediatric orthopaedic perspective. Curr Opin Pediatr. 24(1):46-9, 2012
                                  7. Biyyam DR et al: Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets. Pediatr Radiol. 40(5):782, 2010
                                  8. Slovis TL et al: Evaluating the data concerning vitamin D insufficiency/deficiency and child abuse. Pediatr Radiol. 38(11):1221-4, 2008
                                  9. Mughal Z: Rickets in childhood. Semin Musculoskelet Radiol. 6(3):183-90, 2002
                                  10. Ecklund K et al: Rickets on MR images. Pediatr Radiol. 29(9):673-5, 1999
                                  11. Lee DY et al: Acquired vitamin D-resistant rickets caused by aggressive osteoblastoma in the pelvis: a case report with ten years' follow-up and review of the literature. J Pediatr Orthop. 14(6):793-8, 1994
                                  12. Oestreich AE et al: Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. Pediatr Radiol. 19(5):341-2, 1989
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Clinical Issues

                                          • Diagnostic Checklist

                                            TERMINOLOGY

                                            • Definitions

                                              • Failure to mineralize cartilage & osteoid at growth plates (physes) of immature skeleton in setting of low ion concentrations
                                                • Initial deficiency may be considered as calcipenic or phosphopenic
                                                • Lack of phosphate becomes ultimate problem
                                                  • Underlying factor in all rickets: Failed apoptosis of hypertrophic chondrocytes
                                                    • Key enzyme (caspase-9) dependent on phosphorylation
                                                    • Failure of apoptosis disrupts endochondral ossification
                                              • Most common cause: Nutritional vitamin D deficiency
                                                • ↓ dietary vitamin D &/or ↓ exposure to sunlight
                                                • Primary calcium deficiency uncommon
                                              • Many other causes, including
                                                • Prematurity
                                                  • < 28 weeks gestational age, birth weight < 1,000 g
                                                  • 80% of fetal bone mineralization occurs in 3rd trimester
                                                    • Typical neonatal nutrition not sufficient
                                                    • Exacerbated by medications used for chronic lung disease of prematurity, including steroids & calcium-excreting diuretics
                                                  • Radiologic rickets in up to 55%; may be detected initially at proximal humeri on chest radiographs
                                                • Prenatal factors
                                                  • Maternal medical problems resulting in severe vitamin D deficiency
                                                • Liver disease: ↓ formation of 25-hydroxy vitamin D; unconjugated bilirubin interferes with osteoblasts
                                                  • Chronic liver disease
                                                    • Biliary atresia, total parenteral nutrition, tyrosinemia
                                                  • Anticonvulsant therapy
                                                    • Phenytoin, phenobarbital activate P-450 cytochrome oxidase → ↑ degradation of 25-hydroxy vitamin D
                                                • Malabsorption: Binding with malabsorbed fatty acids → ↓ calcium & vitamin D absorption
                                                  • Celiac disease, inflammatory bowel disease, pancreatic insufficiency
                                                • Hereditary hypophosphatemia: ↑ FGF-23 signaling
                                                • Renal tubular disorders: Various impairments of renal tubular resorption of phosphate & 1-α-hydroxylation of 25-hydroxy vitamin D
                                                  • Vitamin D-resistant rickets
                                                    • Familial hypophosphatemic rickets
                                                    • X-linked hypophosphatemic rickets
                                                  • Fanconi syndrome
                                                    • Nephrotic-glucosuric dwarfism + hypophosphatemic rickets
                                                  • Lowe (oculocerebrorenal) syndrome
                                                    • Cataracts, glaucoma, severe mental retardation
                                                  • Cystine storage disease
                                                  • Chemotherapy: Ifosfamide renal-tubule toxicity
                                                • Oncogenic rickets: Rare paraneoplastic syndrome
                                                  • Nonossifying fibroma
                                                  • Hemangiopericytoma
                                                  • Osteoblastoma
                                                  • Linear sebaceous nevus syndrome
                                                • Chronic renal disease: Renal osteodystrophy with secondary hyperparathyroidism
                                                  • ↓ glomerular function → phosphorus retention → hypocalcemia
                                                  • Tubular dysfunction → ↓ synthesis of 1,25-dihydroxy vitamin D → hypocalcemia
                                                  • Hypocalcemia → hyperparathyroidism

                                            IMAGING

                                            • General Features

                                              • Radiographic Findings

                                                • MR Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Microscopic Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Treatment

                                                              DIAGNOSTIC CHECKLIST

                                                              • Consider

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Servaes S et al: The etiology and significance of fractures in infants and young children: a critical multidisciplinary review. Pediatr Radiol. 46(5):591-600, 2016
                                                                  2. Elder CJ et al: Rickets. Lancet. 383(9929):1665-76, 2014
                                                                  3. Kemper MJ et al: Renal osteodystrophy in children: pathogenesis, diagnosis and treatment. Curr Opin Pediatr. 26(2):180-6, 2014
                                                                  4. Shore RM et al: Rickets: part I. Pediatr Radiol. 43(2):140-51, 2013
                                                                  5. Shore RM et al: Rickets: part II. Pediatr Radiol. 43(2):152-72, 2013
                                                                  6. Clarke NM et al: Vitamin D deficiency: a paediatric orthopaedic perspective. Curr Opin Pediatr. 24(1):46-9, 2012
                                                                  7. Biyyam DR et al: Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets. Pediatr Radiol. 40(5):782, 2010
                                                                  8. Slovis TL et al: Evaluating the data concerning vitamin D insufficiency/deficiency and child abuse. Pediatr Radiol. 38(11):1221-4, 2008
                                                                  9. Mughal Z: Rickets in childhood. Semin Musculoskelet Radiol. 6(3):183-90, 2002
                                                                  10. Ecklund K et al: Rickets on MR images. Pediatr Radiol. 29(9):673-5, 1999
                                                                  11. Lee DY et al: Acquired vitamin D-resistant rickets caused by aggressive osteoblastoma in the pelvis: a case report with ten years' follow-up and review of the literature. J Pediatr Orthop. 14(6):793-8, 1994
                                                                  12. Oestreich AE et al: Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. Pediatr Radiol. 19(5):341-2, 1989