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A 27-Year-Old Man with Severe Osteoporosis and Multiple Bone Fractures

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A 27-Year-Old Man with Severe Osteoporosis and Multiple Bone Fractures The new england journal of medicine case records of the massachusetts general hospital Founded by Richard C. Cabot Eric S. Rosenberg, M.D., Editor Nancy Lee Harris, M.D., Editor Jo-Anne O. Shepard, M.D., Associate Editor Alice M. Cort, M.D., Associate Editor Sally H. Ebeling, Assistant Editor Emily K. McDonald, Assistant Editor Case 24-2014: A 27-Year-Old Man with Severe Osteoporosis and Multiple Bone Fractures Michael Mannstadt, M.D., Angela E. Lin, M.D., and Long P. Le, M.D. Presentation of Case Dr. Joel B. Krier (Pediatrics): A 27-year-old man was seen in the outpatient endocrinology From the Endocrine Unit (M.M.) and the clinic at this hospital because of severe osteoporosis and multiple bone fractures. Departments of Pediatrics (A.E.L.) and Pa- thology (L.P.L.), Massachusetts General The patient had been born to a 23-year-old primigravida mother after 40 weeks Hospital, and the Endocrine Unit (M.M.) of uncomplicated gestation. His mother noted that he had intensely blue sclerae at and the Departments of Pediatrics (A.E.L.) birth; physical examination was otherwise normal. The patient’s postnatal course and Pathology (L.P.L.), Harvard Medical School — both in Boston. was normal, and he was discharged home. When he was approximately 1 year of age, mild delays in speech and gross motor development were noted by his parents N Engl J Med 2014;371:465-72. DOI: 10.1056/NEJMcpc1404139 and pediatrician, including weakness of the leg muscles and poor body control. Copyright © 2014 Massachusetts Medical Society. He began walking at 16 to 17 months of age and shortly thereafter had the first of multiple fractures. He had had more than 12 fractures before he started school, and approximately 20 fractures before he was 10 years of age; these fractures re- sulted from minor trauma, twisting injuries, falls, and collisions that occurred during typical childhood daily activities and play. During early childhood, mild cognitive impairment and speech difficulties were diagnosed and speech therapy was initiated. By the time he started elementary school, his language development had reportedly “caught up” with that of his peers, and he did not require addi- tional speech therapy. He reportedly had mild cognitive challenges in school, for which he was granted extra time on tests and received special-education services, but he attended mainstream classes and graduated from high school. Ankle tendon–release surgery was performed during childhood to improve the range of motion; contrac- ture of the left ankle persisted. Physical therapy was performed. A bone-mineral- density (BMD) assessment performed in childhood was reportedly normal. An evaluation by a geneticist at another hospital during the patient’s early childhood reportedly showed no evidence of chromosomal abnormalities. There was a clinical suspicion of the fragile X syndrome, but definitive testing was not available at the time. When he was in his 20s, the patient began participating in a sports activity pro- gram for youth with disabilities, and fractures occurred with an increased frequency; he had had a total of approximately 30 fractures by the time he was 27 years of age. Fractures predominantly involved the ribs, hands, feet, and ankles and did not include fractures of the long bones or compression fractures. Laboratory evaluation for secondary osteoporosis, performed at a second hospital, was reportedly negative. Four months before this evaluation, BMD assessment with the use of dual-energy n engl j med 371;5 nejm.org july 31, 2014 465 The New England Journal of Medicine Downloaded from nejm.org by MICHAEL MANNSTADT on August 9, 2014. For personal use only. No other uses without permission. Copyright © 2014 Massachusetts Medical Society. All rights reserved. The new england journal of medicine x-ray absorptiometry (DEXA) revealed severe osteo- tient and his mother. He had asymptomatic hypo- porosis. The next month, a 24-hour urine collec- thyroidism, hypercholesterolemia, and vitiligo. He tion contained 120 mg (3 mmol) of calcium and reported pain, which he rated at 2 on a scale of a normal level of creatinine; other test results are 0 to 10 (with 10 indicating the most severe pain), shown in Table 1. Approximately 1 month before “muscle cramps” in his groin and knees on this evaluation, a bone scan performed at an- weight-bearing, occasional pain in his upper other hospital reportedly showed increased tech- body, and occasional palpitations. In the past, netium uptake in two ribs on the left side, as he had had bleeding and infections of his toe- well as in the right ankle, left hindfoot, and mid- nails after self-induced trauma, as well as acid shaft of both tibias, findings that were thought to reflux. He had no history of hearing loss, joint represent fractures. He was referred to the endo- dislocations, nephrolithiasis, eating disorders, lac- crinology clinic at this hospital. tose intolerance, or celiac disease. Medications The medical history was obtained from the pa- included vitamin D3, atorvastatin, and levothy- Table 1. Laboratory Blood-Test Data.* 3 Mo before Reference Range, This Presentation, Variable Adults† at Another Hospital Sodium (mmol/liter) 135–145 138 Potassium (mmol/liter) 3.4–4.8 4.0 Carbon dioxide (mmol/liter) 21–33 19 Creatinine (mg/dl) 0.60–1.50 0.56 Calcium (mg/dl) 8.5–10.5 9.0 Phosphorus (mg/dl) 2.6–4.5 3.0 Alkaline phosphatase (U/liter) 40–115 136 Alkaline phosphatase bone isoenzyme (%) 28–66 70 25-Hydroxyvitamin D (ng/ml) >32 20 Parathyroid hormone (pg/ml)‎ 10–65 39 N-terminal telopeptide (μg/liter) 30–110 37 C-terminal telopeptide (pg/ml) 87–1200 231 Thyrotropin (μU/ml) 0.4–5.0 2.55 Thyroxine (μg/dl) 4.5–10.9 7.9 Thyroid peroxidase antibodies (IU/ml) <35, negative Negative Tissue transglutaminase IgA antibodies (U/ml) <4.0, negative <3 Sex hormone–binding globulin (nmol/liter) 10–50 25 Testosterone (ng/dl) 250–1100 537 Serum protein electrophoresis Normal Normal Cholesterol (mg/dl) Total <200 (desirable) 227 Low-density lipoprotein <130 (desirable) 172 High-density lipoprotein 35–100 39 Triglycerides (mg/dl) 0–150 82 Glycated hemoglobin (%) 3.80–6.40 5 * To convert the values for creatinine to micromoles per liter, multiply by 88.4. To convert the values for calcium to milli- moles per liter, multiply by 0.250. To convert the values for phosphorus to millimoles per liter, multiply by 0.3229. To convert the values for 25-hydroxyvitamin D to nanomoles per liter, multiply by 2.496. To convert the values for thyroxine to nanomoles per liter, multiply by 12.87. To convert the values for testosterone to nanomoles per liter, multiply by 0.03467. To convert the values for cholesterol to millimoles per liter, multiply by 0.02586. † Reference values are affected by many variables, including the patient population and the laboratory methods used. The ranges used at Massachusetts General Hospital are for adults who are not pregnant and do not have medical condi- tions that could affect the results. They may therefore not be appropriate for all patients. 466 n engl j med 371;5 nejm.org july 31, 2014 The New England Journal of Medicine Downloaded from nejm.org by MICHAEL MANNSTADT on August 9, 2014. For personal use only. No other uses without permission. Copyright © 2014 Massachusetts Medical Society. All rights reserved. case records of the massachusetts general hospital roxine sodium. He had no known allergies. His Calcium supplementation and continuation diet included dairy products (one or two glasses of vitamin D supplementation and thyroid- of milk daily and several servings of cheese per replacement therapy were recommended. Exer- week) and two to three cans of carbonated soft cise with weight-bearing and strength training drinks daily. He exercised with light weights and was also advised. a stationary bike; walking was occasionally lim- Two months later, diagnostic tests were per- ited by leg pain. He lived with his parents and a formed. sibling, had graduated from a community col- lege with an associate’s degree, and worked part- Differential Diagnosis time in a service industry. He had casual social contacts through various hobbies. Although he Dr. Michael Mannstadt: The history of this 27-year- had a few good friends in high school, he was old man is most notable for numerous fractures “not very social” as an adult. He spent time in that have occurred since early childhood and re- his room playing online games, worrying, and cent BMD assessment with the use of DEXA re- picking his toenails, which he described as an vealing severe osteoporosis. Since the problem of obsessive behavior. He did not smoke, drink al- multiple bone fractures and osteoporosis is the cohol, or use illicit drugs. His mother was of major feature in this case, I will construct my French Canadian and Native American ancestry differential diagnosis around bone fragility and and his father of Dutch and English ancestry. will use some of the other findings, including His maternal aunt had osteoporosis and had mul- unusual facial features, pale blue sclerae, dis- tiple fractures after 45 years of age after falls, his colored and wide-spaced dentition, and joint lax- father had hypertension and hypercholesterolemia, ity, to narrow the list of possible diagnoses. his maternal grandmother and uncles had diabe- tes mellitus type 2, and his sisters were healthy. Osteomalacia and rickets On examination, the blood pressure was Osteoporosis, a disease of low bone mass, has to be 125/86 mm Hg, the pulse 67 beats per minute, distinguished from osteomalacia, a defect in the the height 167 cm (9th percentile), the weight mineralization of the bony matrix.
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