Tumor-induced rickets-osteomalacia: an enigma

2020 ◽  
Vol 33 (8) ◽  
pp. 1097-1103
Author(s):  
Sandeep Kumar ◽  
Ravikumar Shah ◽  
Virendra Patil ◽  
Swati Ramteke-Jadhav ◽  
Munita Bal ◽  
...  
Keyword(s):  
Fibroblast Growth Factor 23 ◽  
Delayed Diagnosis ◽  
Hypophosphatemic Rickets ◽  
Total Parathyroidectomy ◽  
Elevated Alkaline Phosphatase ◽  
Case Presentation ◽  
Tertiary Hyperparathyroidism ◽  
Biochemical Evaluation ◽  
Surgical Corrections ◽  
Normal Calcium

AbstractObjectivesWe report a case of pediatric thoracic tumor-induced osteomalacia (TIO) causing severe hypophosphatemic rickets with delayed diagnosis and emphasize on timely management of this rare entity.Case presentationA young boy presented with rickets since five years of age. Biochemical evaluation revealed hypophosphatemia, hyperphosphaturia, elevated alkaline phosphatase and normal calcium levels. Initially managed as hereditary hypophosphatemic rickets, he was given phosphorus supplements and calcitriol. Despite the therapy, skeletal deformities worsened requiring surgical corrections. Subsequently, he developed iatrogenic tertiary hyperparathyroidism for which he underwent total parathyroidectomy. Later on, he was found to have fibroblast growth factor-23 secreting thoracic mass (10.5 cm in largest dimension) which was excised with significant post operative improvement. Histopathology showed phosphaturic mesenchymal tumor-mixed connective tissue variant, confirming the diagnosis of TIO.ConclusionTIO, a correctable cause of hypophosphatemic rickets, should be considered in children presenting with hypophosphatemic rickets with evident mass on examination/imaging and in refractory cases.

scholarly journals X-linked hypophosphatemic rickets: a new mutation

2020 ◽  
Author(s):  
Patrícia Maio ◽  
Lia Mano ◽  
Sara Rocha ◽  
Rute Baeta Baptista ◽  
Telma Francisco ◽  
...  
Keyword(s):  
Failure To Thrive ◽  
Hypophosphatemic Rickets ◽  
Phenotype Correlation ◽  
New Mutation ◽  
Elevated Alkaline Phosphatase ◽  
Phex Gene ◽  
Patient’S Outcome ◽  
Normal Calcium ◽  
Bone Deformities ◽  
New Mutations

Abstract Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypophosphatemia, elevated alkaline phosphatase, normal calcium, mildly elevated PTH and normal levels of 25(OH)D and 1.25(OH)D. The radiological study showed bone deformities of the radius and femur. Clinical diagnosis of phosphopenic rickets was made and the genetic study detected a heterozygous likely pathogenic variant of the PHEX gene: c.767_768del (p.Thr256Serfs*7). This variant was not previously described in the literature or databases. Knowledge about new mutations can improve patient’s outcome. Genetic analysis can help to establish a genotype-phenotype correlation.

scholarly journals Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Yun Ann Chin ◽  
Yi Zhao ◽  
Gerald Tay ◽  
Weiying Sim ◽  
Chun Yuen Chow ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Perioperative Management ◽  
Delayed Diagnosis ◽  
Accurate Diagnosis ◽  
Hypophosphatemic Rickets ◽  
Multidisciplinary Management ◽  
Tertiary Hyperparathyroidism ◽  
Phex Gene ◽  
Prevalent Form

X-linked hypophosphatemia (XLH) is the most prevalent form of hereditary hypophosphatemic rickets associated with phosphate wasting. However, its diagnosis is often missed, resulting in patients presenting late in the course of the disease when complications such as tertiary hyperparathyroidism and renal failure have already set in. Phosphate and calcitriol replacement, both of which have undesirable consequences of their own, have historically been the main stay of therapy. We describe the case of a 57-year-old gentleman with tertiary hyperparathyroidism, who was mislabelled as having achondroplasia for many years before we made a diagnosis of XLH in him. His XLH was found to be due to a hereto unreported deletion of entire exon 14 with partial deletions of introns 13 and 14 of the PHEX gene. Perioperative management in him was fraught with surgical and medical difficulties including an operation that was technically complicated due to his multiple anatomical deformities. Our case also highlights the critical importance of timely recognition and accurate diagnosis of XLH, as well as the long-term multidisciplinary management that is needed for this disorder.

scholarly journals The Metabolic Bone Disease X-linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology

Life ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 563
Author(s):  
Jon Vincze ◽  
Brian W. Skinner ◽  
Katherine A. Tucker ◽  
Kory A. Conaway ◽  
Jonathan W. Lowery ◽  
...  
Keyword(s):  
Vitamin D ◽  
Biological Effects ◽  
Fibroblast Growth Factor 23 ◽  
Elevated Serum ◽  
Fractional Excretion ◽  
The United States ◽  
Vitamin D Supplementation ◽  
Loss Of Function ◽  
Case Presentation ◽  
Serum Inorganic Phosphate

The authors present a stereotypical case presentation of X-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab. XLH is a renal phosphate wasting disorder caused by loss of function mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). Typical biochemical findings include elevated serum levels of bioactive/intact fibroblast growth factor 23 (FGF23) which lead to (i) low serum phosphate levels, (ii) increased fractional excretion of phosphate, and (iii) inappropriately low or normal 1,25-dihydroxyvitamin D (1,25-vitD). XLH is the most common form of heritable rickets and short stature in patients with XLH is due to chronic hypophosphatemia. Additionally, patients with XLH experience joint pain and osteoarthritis from skeletal deformities, fractures, enthesopathy, spinal stenosis, and hearing loss. Historically, treatment for XLH was limited to oral phosphate supplementation, active vitamin D supplementation, and surgical intervention for cases of severe bowed legs. In 2018, the United States Food and Drug Administration (FDA) approved burosumab for the treatment of XLH and this medication has demonstrated substantial benefit compared with conventional therapy. Burosumab binds circulating intact FGF23 and blocks its biological effects in target tissues, resulting in increased serum inorganic phosphate (Pi) concentrations and increased conversion of inactive vitamin D to active 1,25-vitD.

scholarly journals Outcome of Total Parathyroidectomy and Autotransplantation as Treatment of Secondary and Tertiary Hyperparathyroidism in Children and Adults

2010 ◽  
Vol 34 (5) ◽  
pp. 993-1000 ◽  
Author(s):  
A. J. Kievit ◽  
J. G. M. Tinnemans ◽  
M. M. Idu ◽  
J. W. Groothoff ◽  
S. Surachno ◽  
...  
Keyword(s):  
Total Parathyroidectomy ◽  
Tertiary Hyperparathyroidism

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Manjunath Havalappa Dodamani ◽  
Manjeetkaur Sehemby ◽  
Saba Samad Memon ◽  
Vijaya Sarathi ◽  
Anurag R. Lila ◽  
...  
Keyword(s):  
Systematic Review ◽  
Vitamin D ◽  
World Literature ◽  
Hot Spot ◽  
Severe Disease ◽  
Delayed Diagnosis ◽  
Hypophosphatemic Rickets ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Pathogenic Variants

Abstract Background Vitamin D dependent rickets type 1 (VDDR1) is a rare disease due to pathogenic variants in 1-α hydroxylase gene. We describe our experience with systematic review of world literature to describe phenotype and genotype. Methods Seven patients from six unrelated families with genetically proven VDDR1 from our cohort and 165 probands from systematic review were analyzed retrospectively. The clinical features, biochemistry, genetics, management, and long-term outcome were retrieved. Results In our cohort, the median age at presentation and diagnosis was 11(4–18) and 40(30–240) months. The delayed diagnoses were due to misdiagnoses as renal tubular acidosis and hypophosphatemic rickets. Four had hypocalcemic seizures in infancy whereas all had rickets by 2 years. All patients had biochemical response to calcitriol, however two patients diagnosed post-puberty had persistent deformity. Genetic analysis revealed two novel (p.Met260Arg, p.Arg453Leu) and a recurring variant (p.Phe443Profs*24). Systematic review showed that seizures as most common presentation in infancy, whereas delayed motor milestones and deformities after infancy. Diagnosis was delayed in 27 patients. Patients with unsatisfactory response despite compliance were >12 years at treatment initiation. Inappropriately normal 1,25(OH)2D may be present, however suppressed ratio of 1,25(OH)2 D/25(OH)D may provide a clue to diagnosis. Various region specific and hot-spot recurrent variants are described. Patients with truncating variants had higher daily calcitriol requirement and greatly suppressed ratio of 1,25(OH)2D/25(OH)D. Conclusion Delayed diagnosis may lead to permanent short stature and deformities. Truncating variants tend to have severe disease as compared to non-truncating variants. Diagnostic accuracy of 1,25(OH)2 D/25(OH)D ratio needs further validation.

scholarly journals Chilaiditi Syndrome: A Case Report Highlighting the Intermittent Nature of the Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Esha M. Kapania ◽  
Christina Link ◽  
Joshua M. Eberhardt
Keyword(s):  
Case Report ◽  
Complete Resolution ◽  
Clinical Symptoms ◽  
Case Reports ◽  
Delayed Diagnosis ◽  
Spontaneous Resolution ◽  
Radiographic Evidence ◽  
Case Presentation ◽  
Chilaiditi Syndrome

Background. Chilaiditi syndrome is a phenomenon where there is an interposition of the colon between the liver and the abdominal wall leading to clinical symptoms. This is distinct from Chilaiditi sign for which there is radiographic evidence of the interposition, but is asymptomatic. Case Presentation. Here, we present the case of a patient who, despite having clinical symptoms for a decade, had a delayed diagnosis presumably due to the interposition being intermittent and episodic. Conclusions. This case highlights the fact that Chilaiditi syndrome may be intermittent and episodic in nature. This raises an interesting question of whether previous case reports, which describe complete resolution of the syndrome after nonsurgical intervention, are perhaps just capturing periods of resolution that may have occurred spontaneously. Because the syndrome may be intermittent with spontaneous resolution and then recurrence, patients should have episodic follow-up after nonsurgical intervention.

scholarly journals Delayed Diagnosis of Unilateral Mandibular Condylar Fracture in a Posterior Edentulous Patient

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Sahani Anupama ◽  
Pilana Vithanage Kalani Shihanika Hettiarachchi
Keyword(s):  
Early Diagnosis ◽  
Clinical Case ◽  
Delayed Diagnosis ◽  
Mandibular Fractures ◽  
Edentulous Patient ◽  
Condylar Fracture ◽  
Physical Finding ◽  
Case Presentation ◽  
Edentulous Patients ◽  
Condylar Fractures

Background. Fractures of the mandible are common in elderly patients, and among them, condylar fractures are the most frequent type. A change in occlusion is the most common physical finding in patients with fractures of the mandible. Therefore, it is challenging to identify mandibular fractures in posterior edentulous patients due to the lack of posterior occlusal contacts. It is crucial to do radiological investigations in such patients to exclude fractures. Case Presentation. This article describes a case of delayed diagnosis of a unilateral mandibular condylar fracture for a week’s duration and treating the condition as temporomandibular pathology in a posterior edentulous, 52-year-old patient. Conclusion. This clinical case highlights the importance of radiological investigations and occlusal analysis for early diagnosis of condylar fractures, particularly in posterior edentulous patients, lacking posterior occlusal contacts.

scholarly journals Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets

2017 ◽  
Vol 9 (1) ◽  
pp. 24-26
Author(s):  
Jose Maria Fernandez Cebrian ◽  
Enrique Colás Ruiz ◽  
Laura Vega ◽  
Santiago Linacero ◽  
Edgardo Celi ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Rare Complication ◽  
Hypophosphatemic Rickets ◽  
Tertiary Hyperparathyroidism

ABSTRACT Tertiary hyperparathyroidism is a rare complication of X-linked hypophosphatemic rickets. The surgical treatment is already unclear. How to cite this article Ruiz EC, Cebrián JMF, Vega L, Linacero S, Celi E, Quintáns A. Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets. World J Endoc Surg 2017;9(1):24-26.

scholarly journals Transscaphoid Dorsal Lunate Dislocation: A Case Presentation and Review of the Literature

2020 ◽  
Author(s):  
Ahmadreza Afshar ◽  
Ali Tabrizi ◽  
Ali Aidenlou
Keyword(s):  
Daily Living ◽  
Scaphoid Fracture ◽  
Delayed Diagnosis ◽  
Proximal Row Carpectomy ◽  
Huge Amount ◽  
Level Of Evidence ◽  
Rare Injury ◽  
Case Presentation ◽  
Delayed Treatment ◽  
High Prevalence

AbstractThis case report describes a 74-year-old man with the rare injury of transscaphoid dorsal lunate dislocation (LD). He sustained a crushing injury with a huge amount of energy to his right wrist while working with a pressing machine. There were deep abrasions and areas of skin necrosis on the dorsum of the wrist. The patient was treated with closed reduction and a Herbert screw fixation for the scaphoid fracture. Six months postoperatively, avascular necrosis (AVN) of the lunate and scaphoid was apparent on the wrist radiographs. We offered a proximal row carpectomy to the patient, but he declined surgery because he was able to perform his activity of daily living. Dorsal LD as well as its variants has a high prevalence of AVN of the lunate. Delayed diagnosis, delayed treatment, and open reduction increase the risk of AVN development of the lunate. The level of evidence is therapeutic IV.

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