Multiple endocrine neoplasia type 1 revealed by a hip pathologic fracture

Slouma, M.; Abbés, M.; Dhahri, R.; Litaiem, Noureddine; Gueddiche, N.; Mansouri, Nada; Msekni, Issam; Gharsallah, I.; Métoui, L.; Louzir, B.

doi:10.1007/s10067-020-05281-3

Cited by 5 publications

(7 citation statements)

References 41 publications

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“…It can be caused by parathyroid adenoma or diffuse hyperplasia of the parathyroid 20 . These two entities share similar clinical presentations, such as bone pain and fractures 21 . They also share histological features, including predominant bone marrow fibrosis and increased vascularity 21 .…”

Section: Discussionmentioning

confidence: 99%

“…20 These two entities share similar clinical presentations, such as bone pain and fractures. 21 They also share histological features, including predominant bone marrow fibrosis and increased vascularity. 21 The cardinal biochemical features of this disease are increased levels of serum calcium, depression of serum phosphate, excessive urinary excretion of calcium and phosphorus, along with high levels of parathyroid hormone.…”

Section: Discussionmentioning

confidence: 99%

“…21 Osteitis fibrosa cystica is the classic bone complication of long-term primary HPT occurring in 1.5% of cases. 21 Other radiographic changes include salt-and-pepper appearance of the skull, subperiosteal resorption of the phalanges, osteolysis of the distal clavicles, and cysts. 22,23 Diffuse demineralization and pathological fractures may also be seen.…”

Section: Discussionmentioning

confidence: 99%

“…The diagnosis is mainly based on biological findings 21 …”

Section: Discussionmentioning

confidence: 99%

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Hypercalcemia in a patient with a bowing femur

Slouma

Rahmouni

Dhahri

et al. 2020

Clinical Case Reports

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…The diagnosis is mainly based on biological findings 21 …”

Section: Discussionmentioning

confidence: 99%

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Hypercalcemia in a patient with a bowing femur

Slouma

Rahmouni

Dhahri

et al. 2020

Clinical Case Reports

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“…In 99mTc-Sestamibi scan delayed imaging, the tracer is abnormally aggregated at the lesion (Figures 1A,2A,4A) (5). A diagnosis of MEN1 diagnosis should be considered when pathological fractures occur in young patients with endocrine disorders (23).…”

Section: Parathyroid Tumorsmentioning

confidence: 99%

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

et al. 2021

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We aimed to provide ideas for clinicians, especially radiologists, for the diagnosis of multiple endocrine neoplasia (MEN) syndromes.Background: MEN syndromes include MEN1, MEN2, and MEN4 and usually involve 2 or more endocrine tumors. The MEN syndromes are a group of euchromatic dominant genetic diseases, and the main genes involved include MEN1 (MEN1), RET (MEN2), and CDKN1B (MEN4).Methods: In this article, involving 8 cases (4 cases of MEN1, 2 cases of MEN2A, 1 case of MEN2B, 1 case of MEN4) from our center, we introduced the disease spectrum, clinical manifestations (especially imaging findings), and related genes involved in each type of MEN syndromes. We also discussed the differential diagnosis between MEN and sporadic tumors and emphasized that MEN should be screened and the relevant required examinations. Conclusions:Considering that MEN syndromes involve multiple endocrine gland tumors and nonendocrine organ diseases, it is very important to identify potential patients early and perform multiple examinations on them, including biochemical and multitype, and multisite imaging examinations according to the disease spectrum of each type. Considering that this is a group of genetic diseases, both interviewing patients about their family history and genetic testing are also very important. Only in this way can a comprehensive and accurate diagnosis be made, enabling patients to receive appropriate treatment and improve their prognosis.

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Hypoparathyroidism: Musculoskeletal Manifestations Related to Parathormone Deficiency

Slouma,

Hannech,

Gharsallah

2024

CRR

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Background: Hypoparathyroidism is a rare metabolic disorder characterized by a deficiency in the parathyroid hormone. Aim: This manuscript aims to provide an updated review of musculoskeletal diseases and conditions associated with adult-onset nonsurgical nongenetic hypoparathyroidism. Musculoskeletal manifestations are frequent in patients with hypoparathyroidism and can reveal this disease. Methods: They may include myopathy, shoulder disorder, immune-negative non-erosive peripheral arthritis, axial involvement simulating spondylarthritis, and diffuse ligamentous ossifications. An association between hypoparathyroidism and spondyloarthritis or autoimmune diseases is possible. T-cell activation can be seen in patients with hypoparathyroidism and may explain the co-occurrence of hypoparathyroidism with other autoimmune diseases. The treatment of these manifestations is based on conventional therapy with calcium and active vitamin D. Parathyroid hormone may have an anabolic effect on muscle atrophy and muscle weakness. Diffuse myalgia, muscle cramps, weakness, and myopathy can appear in patients with hypoparathyroidism. Result: Besides, parathyroid hormone can promote bone formation and bone resorption by stimulating osteoclast differentiation by increasing RANKL (receptor activator for nuclear factor kappa- B ligand) expression. Therefore, hypoparathyroidism can be responsible for an increase in bone mineral density. Conclusion: The risk of fractures does not appear to be reduced due to changes in bone microarchitecture and the high risk of falls. Treatment with parathyroid hormone has been shown to improve bone microarchitecture.

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Multiple endocrine neoplasia type 1 revealed by a hip pathologic fracture

Cited by 5 publications

References 41 publications

Hypercalcemia in a patient with a bowing femur

Hypercalcemia in a patient with a bowing femur

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis

Hypoparathyroidism: Musculoskeletal Manifestations Related to Parathormone Deficiency

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