Revista de Osteoporosis y Metabolismo Mineral

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Category: Clinical Notes

Melorheostosis: presentation of a clinical case

Melorheostosis is a form of hyperostosis which affects both bone and the adjacent soft tissues. Its incidence is variable, although it is higher in the second and third decades of life due to the slowly progressive nature of the disease. It generally presents with pain which may cause significant functional limitation. We may be assisted in its diagnosis by its characteristic radiological image which resembles “wax melting down the side of a candle”. A case of melorheostosis is presented with clinical findings and radiological characteristics. The patient had previously been diagnosed with Paget’s disease of bone, so we proposed a differential diagnosis of this pathology.

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Gitelman syndrome and chondrocalcinosis. A clinical case review

Gitelman syndrome is a tubulopathy of autosomal recessive inheritance which presents with, among other manifestations, hypomagnesemia and hypocalciuria. We present the case of a woman of 68 years of age who came for a consultation due to arthritis in the large joints, in the absence of other symptomology. The X-ray study showed deposits of calcium pyrophosphate in the knees, pubic symphysis and other joints. Blood tests revealed hypomagnesemia and hypocalciuria compatible with Gitelman syndrome, which was confirmed following a genetic study.

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Are the current surgical criteria for asymptomatic primary hyperparathyroidism valid?

HPTP is a very frequent pathology which often develops asymptomatically. Surgical intervention being the only curative treatment for this disease there are some criteria for the indication of surgery, but these do not always fit the reality of the patient since they are based on clinical complications (osteoporosis, renal insufficiency, urolithiasis, fragility fractures).

We present the clinical case of a patient who did not meet any of the requirements for having surgical intervention according to the position documents, and who was operated on after the existence was shown of a deterioration of the trabecular bone structure, determined by the TBS (trabecular bone score) technique, and located in the adenoma using gammagraphy. The possible use of these techniques, not seen in the position documents, to complement the decision regarding surgery, is discussed.

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Preliminary study of osteoblasts in peripheral blood in the population of infants and adolescents*

The presence of osteoporosis in adult life is conditional on the adequate development and formation of bone during growth in infancy and adolescence and the successive loss which occurs throughout life. Knowledge regarding bone tissue cells and their precursors in stages of growth is scarce, given the difficulties in obtaining samples of this tissue. Recent studies suggest a method of obtaining osteoblast line cells from peripheral blood. The main objective of this work has been to quantify the osteoblast line cells in the peripheral blood of infants and adolescents, as well as noting any possible differences according to the stage of growth.
38 subjects were studied, 16 children (between 4 and 12 years of age) and 12 adolescents (aged between 12 and 18 years). Osteoblast precursor cells in peripheral blood were analysed using the flow cytometry technique. The preliminary results show higher levels of preosteoblastic cells in the youngest age group: 4.17% ± 0.92 vs 2.03% ± 0.48, p= 0.021. There is a negative correlation between the percentage of preosteoblastic cells and age r= -0.488 and weight r= -0.530, p< 0.05. In summary, this technique allows us to quantify preosteoblasts in peripheral blood, and we show that they have a higher percentage, the lower the age, during the period of infancy and adolescence.

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General and bone pain syndrome in a patient treated with tenofovir

Tenofovir (TDF), is the only nucleotide analogue reverse transcriptase inhibitor for treating human immunodeficiency virus (HIV). Occasionally, it may cause acute renal failure and Fanconi syndrome.

We report the case of a 64-year-old male diagnosed with HIV infection 22 years previous and treated with tenofovir. In outpatient follow-up, the patient complained of progressive fatigue and diffuse aching bones. In several check-ups, increased alkaline phosphatase and parathyroid hormone (PTH) were observed. Over the past month, his condition worsened and he was admitted to hospital. Analytical data included marked glycosuria, hypophosphatemia, hyperphosphaturia and hypouricemia. All changes were resolved when TDF was discontinued.This illustrates the importance of clinical evaluations that include possible TDF-induced proximal tubulopathy in patients with general bone pain syndrome or mineral metabolism disturbances.

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Patient of 92 years with gouty Arthropathy


Gout is a metabolic disease characterised by the deposition of monosodium urate crystals in the interior structures of the joints. Its prevalence is approximately 8.4 cases per 1000 individuals and is more frequent in middle-aged and older males1.
Although hyperuricemia is a necessary predispositional factor, its presence does not always imply the development of gout. In fact, the majority of hyperuricemic patients never develop gout2,3,4. Individual differences in the formation of the crystals or in the inflammatory response, or in both, could play a role in determining if a patient with hyperuricemia will develop gout. Unfortunately, there is not yet a satisfactory explanation for some of the clinical aspects of acute gout, including5,6,7,8 the precipitation of acute attacks by trauma or surgery, its predilection for the first metatarsal-phalangeal joint, and the spontaneous resolution of the attacks.
The clinical manifestations of gout include recurrent attacks of acute inflammatory arthritis, accumulation of monosodium urate crystals in the form of tophaceous deposits, nephrolithiasis caused by the uric acid and chronic nephropathy. Three classic stages are described in the natural history of the progressive deposition of monosodium urate, which includes acute gouty arthritis, an interval, or intercritical gout, and then chronic tophaceous gout.
Acute gouty arthritis generally occurs some years after a period of asymptomatic hyperuricemia. A typical attack, which is markedly inflammatory, consists of severe pain, reddening, swelling and functional impairment which reach their maximum intensity after a few hours. In general (80%), the initial attacks only affect a single joint, typically in the lower extremities, often at the base of the big toe (podagra), or the knee. The associated signs of inflammation frequently extend beyond the affected joint and at times, can affect a number of joints, with tenosinovitis, dactilitis and even celulitis also apparent.
Overall, it has been observed that 12-43% of patients with episodes of gout show normal or even reduced values of uric acid in the blood9,10,11.

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Increased bone modelling as a presentation of Graves’ disease

The adverse effects of hyperthyroidism on bone have been described for years. Thyroid hormones are necessary for growth, maturation, metabolism and bone remodelling. However, untreated thyrotoxicosis causes increased remodelling, osteopenia or osteoporosis and increased fracture risk. Since the introduction of antithyroid drugs and radioiodine, hyperthyroid bone disease is less common. Here we present a rare case of an asymptomatic patient with thyrotoxicosis making its debut as increased bone remodelling.

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Familial hypocalciuric hypercalcemia: sometimes it is not what it seems

Familial hypocalciuric hypercalcemia (FHH) is an uncommon cause of hypercalcemia. Its prevalence is estimated to be 1:78,000 people. We describe a case with atypical presentation confirmed by genetic diagnosis.

This is a case of a woman of 74 years of age with osteoporosis referred to the endocrinology service with suspected primary hyperparathyroidism (HPTP). She presented with a high level of parathyroid hormone (96.3 pg/ml, normal limits (NL): 15-65 pg/ml), with normal levels of calcium, phosphorus and magnesium, as well as a raised level of calciuria.

She subsequently presented with normal levels of PTH, raised levels of calcium, combined with normal -high calciuria. The calcium/creatinine clearance ratio (CCCR, in mmol/l) varied between 0.011 and 0.02 mmol/l. A CCCR <0.01 is suggestive of FHH, and a CCCR >0.02, of HPTP. This ratio is within the range between 0.01 and 0.02 mmol/l, a reason which justifies requesting a genetic test in all patients with normal or high PTH, hypercalcemia and CCCR <0.02, requirements which our index case meets.

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Vertebral fractures as a debut to Cushing syndrome diagnosed after a pregnancy

The case is described of a 34 year old patient with Cushing’s disease diagnosed as a result of having multiple pathological vertebral fractures after giving birth. The sudden appearance of acute fractures in five vertebral bodies, the phenotype characteristics of the patient and her medical history  pointed to a diagnosis of Cushing’s syndrome, a condition which rarely coincides with pregnancy. After a resection of the hypophysary adenoma and the start of treatment with teriparatide, the patient experienced notable clinical and densitometric improvement. This case demonstrates the importance of suspecting a bone metabolism disorder in the presence of pathological fractures in young patients, even more in certain states, such as pregnancy or lactation.

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