Two Different Causes of Paediatric Hypercalcaemia

Kutı́lek, Štěpán; Plášilová, Ivana; Chrobok, Viktor

doi:10.18295/squmj.2018.18.03.022

Cited by 4 publications

(2 citation statements)

References 13 publications

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“…Primary hypercalcemia is typically present in early infancy, especially in the neonatal period, and is less common in adolescence and adulthood, where it is frequently found secondary to other health conditions (e.g., hyperparathyroidism) [26][27][28] . For pediatricians, it is especially important to consider WBS in neonates and infants when facing idiopathic hypercalcemia either with or without associated congenital heart defects 3,28,29 . Hypercalcemia was found in 10.5% of the patients in the study sample, and this value is lower than that described in the literature.…”

Section: Discussionmentioning

confidence: 99%

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

Pires

Ribeiro

Sousa

et al. 2021

Arq. Neuro-Psiquiatr.

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Background: Williams-Beuren syndrome is a multisystemic disorder caused by a microdeletion of the 7q11.23 region. Although familial cases with autosomal dominant inheritance have been reported, the vast majority are sporadic. Objective: To investigate the main complaints and clinical findings of patients with Williams-Beuren syndrome. Methods: A total of 757 parents of patients registered in the Brazilian Association of Williams-Beuren Syndrome (ABSW) received a questionnaire via WhatsApp from March to July 2017. Results: In total, 229 parents answered the survey. Age of diagnosis ranged from 2 days to 34 years (median: 3 years). The main clinical findings reported by the parents were abdominal colic (83.3%), failure to thrive (71.5%), feeding difficulty in the first year (68.9%), otitis (56.6%), urinary tract infections (31.9%), precocious puberty (27.1%) and scoliosis (15.9%). Cardiac defects were present in 66% of patients, and the most frequent defect was supravalvular aortic stenosis (36%). Arterial hypertension was reported in 23%. Hypercalcemia was reported in 10.5% of patients, mainly during the first year of life. Hyperacusis and hypersociability were common complaints (both present in 89%). Other behavioral and neuropsychiatric symptoms reported by the parents included attention deficit (89%), anger crises (83%), excessive fear (66%), depression (64%), anxiety (67%) and hypersexuality (33%). The most common complaints were hypersensitivity to sounds, talkative personality, emotional dependence and learning difficulties. In 98.3%, the parents denied family history. Conclusions: Williams-Beuren syndrome requires close follow-up with different medical specialties due to their variable clinical comorbidities, including language and school learning difficulties, behavioral and psychiatric problems.

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Section: Discussionmentioning

confidence: 99%

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

Pires

Ribeiro

Sousa

et al. 2021

Arq. Neuro-Psiquiatr.

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“…Hypercalcemia occurs in 15–50% of children with Williams syndrome [ 20 , 21 ]. In our case, calcium abnormality was not observed during the observational period.…”

Section: Discussionmentioning

confidence: 99%

Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report

et al. 2021

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Background A decrease in bone mineral density is common in patients with Williams syndrome. However, appropriate management for osteoporosis in Williams syndrome patients has not been established. We report the case of a 12-year-old female patient with Williams syndrome, who underwent denosumab treatment for osteoporosis. Case presentation A 12-year-old Japanese female patient with Williams syndrome was shown to have very low bone mineral density. Bone mineral density was evaluated before treatment and at 5, 9, 17, 23, and 29 months of treatment by dual-energy X-ray absorptiometry. After denosumab therapy for 29 months, lumbar and total hip bone mineral density values had increased by 51.6% and 37.6%, respectively. No new fractures occurred during the observation period. Conclusions To the best of our knowledge, this is the first experience with denosumab treatment in Williams syndrome patients with osteoporosis. Based on our findings, denosumab may be an effective treatment option for Williams syndrome patients with osteoporosis.

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