Radiological Features of Long-Standing Hypoparathyroidism

John, Deepa Regina; Suthar, Pokhraj Prakashchandra

doi:10.12659/pjr.896104

Cited by 16 publications

(6 citation statements)

References 5 publications

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“…[20,21] However, multiple parenchymal cysts and extensive leukoencephalopathy in our patient were not supportive of these 2 entities. [20,21] Also, the depositing of cerebral calcifications in our patient manifested relatively asymmetric compared with Fahr's disease and idiopathic hypoparathyroidism. [20,21] …”

Section: Discussionmentioning

confidence: 78%

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Cerebroretinal microangiopathy with calcifications and cysts

Zhu²,

Zhang³

2017

Medicine

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Rational:Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability.Patient Concerns:The 23-year-old female patient firstly presented with an adolescence onset of ophthalmological manifestations. Four years later, hematological and neurological disorders occurred, the latter of which demonstrated a relatively slow progression in the following 7 years preceding her presentation to our hospital.Interventions:During hospitalization, disorders involving digestive, cardiovascular and respiratory systems were also detected. In addition, a more comprehensive depiction of neurological disorders on neuroimaging was also obtained.Diagnoses:On the basis of multiple system disorders and the detection of mutations in conserved telomere maintenance component 1(CTC1) gene, a diagnosis of CRMCC was made.Outcomes:After supportive therapy during her 4-week hospitalization, the patient's general condition improved and was released from the hospital.Lessons:CRMCC could be primarily diagnosed with the aid of its multiple system disorders and remarkable neuroimaging features. Cerebral micro hemorrhages determined by the combination of CT and T2∗-weighted magnetic resonance images in our case could provide some additional information for diagnosis. Furthermore, several other associated disorders were depicted for the first time in our case, expanding the clinical spectrum of CRMCC.

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Section: Discussionmentioning

confidence: 78%

“…[20,21] Also, the depositing of cerebral calcifications in our patient manifested relatively asymmetric compared with Fahr's disease and idiopathic hypoparathyroidism. [20,21] …”

Section: Discussionmentioning

confidence: 90%

Cerebroretinal microangiopathy with calcifications and cysts

Zhu²,

Zhang³

2017

Medicine

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“…Mechanism of brain calcification in HP has been linked to long duration of hyperphosphatemia 7,13 and high calcium-phosphate product, resulting from the disease itself and from long-term treatment with activated vitamin D and calcium 7 . High serum phosphate may also activate the inorganic phosphate transporter pit1 and result in the expression of osteogenic molecules in the caudate nucleus and gray matter as mechanisms explaining BGC 7 .…”

Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism and Fahr’s syndrome: case series

et al. 2022

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Hypoparathyroidism (HP) is a rare metabolic disorder and causes hypocalcemia because parathyroid hormone secretion is inadequate to mobilize calcium from bone and reabsorb calcium from kidney and gut. Anterior neck surgery is the most common cause of acquired HP and autoimmune HP is the next most common form in adults. The duration, severity, and rate of development of hypocalcemia determine the clinical presentation. A variety of organs can be affected by calcification, more frequently kidneys, but also joints, eyes, skin, vasculature, and other organ systems and, although rarely seen, intracerebral calcifications. Case series: We report four cases of bilateral basal ganglia calcifications (BGC) also known as Fahr’s syndrome related to hypoparathyroidism. Discussion: Fahr’s syndrome is characterized by bilateral symmetrical calcification of areas of the brain that control movements including basal ganglia, thalamus, and others; it is a rare inherited or sporadic neurological disorder with a prevalence of less than 1/1.000.000. Main symptoms related to bilateral BGC include extra-pyramidal and cerebellar disorders, cognitive impairment, epileptic seizures, and psychiatric changes. BGC has been established as a possible outcome of HP. Its prevalence, demonstrated in the HP cohorts, varied significantly from 12 up to 74%. Currently, computed tomography (CT) is the most valuable method for diagnosis. The treatment include symptomatic support and identification of causes, but there is no specific treatment limiting the progression of calcification in the basal ganglia. Especially in HP, an early treatment can prevent calcification and neurophysiological disorders.

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“…Disturbances in mineral metabolism namely phosphorus phosphatase and calcium can also originate disorders that have been reported in association with OSL: familial hypocalciuric hypercalcemia, hypophosphatemic rickets and hypophosphatasia. 1989;Unverdi et al, 2009;John and Suthar, 2016). The genes GNAS, GCM2 and PTH, closely related to hypoparathryroidism, play a role in both calcium and phosphorus metabolism.…”

Section: Associated Disordersmentioning

confidence: 99%

Insights in Genetics of Common and Rare Diseases: 2022

2024

Frontiers Research Topics

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Frontiers is more than just an open access publisher of scholarly articles: it is a pioneering approach to the world of academia, radically improving the way scholarly research is managed. The grand vision of Frontiers is a world where all people have an equal opportunity to seek, share and generate knowledge. Frontiers provides immediate and permanent online open access to all its publications, but this alone is not enough to realize our grand goals. Frontiers journal seriesThe Frontiers journal series is a multi-tier and interdisciplinary set of openaccess, online journals, promising a paradigm shift from the current review, selection and dissemination processes in academic publishing. All Frontiers journals are driven by researchers for researchers; therefore, they constitute a service to the scholarly community. At the same time, the Frontiers journal series operates on a revolutionary invention, the tiered publishing system, initially addressing specific communities of scholars, and gradually climbing up to broader public understanding, thus serving the interests of the lay society, too. Dedication to qualityEach Frontiers article is a landmark of the highest quality, thanks to genuinely collaborative interactions between authors and review editors, who include some of the world's best academicians. Research must be certified by peers before entering a stream of knowledge that may eventually reach the public -and shape society; therefore, Frontiers only applies the most rigorous and unbiased reviews. Frontiers revolutionizes research publishing by freely delivering the most outstanding research, evaluated with no bias from both the academic and social point of view. By applying the most advanced information technologies, Frontiers is catapulting scholarly publishing into a new generation. What are Frontiers Research Topics?Frontiers Research Topics are very popular trademarks of the Frontiers journals series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area.

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Radiological Features of Long-Standing Hypoparathyroidism

Cited by 16 publications

References 5 publications

Cerebroretinal microangiopathy with calcifications and cysts

Cerebroretinal microangiopathy with calcifications and cysts

Hypoparathyroidism and Fahr’s syndrome: case series

Insights in Genetics of Common and Rare Diseases: 2022

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