hrp0092p1-177 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Severe Hypocalcaemia in Propionic Acidaemia caused by Parathyroid Hormone Resistance and treated with Alfacalcidol

Sandy Jessica , Champion Michael , Cheung Moira

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

hrp0092p3-327 | Late Breaking Abstracts | ESPE2019

Severe Hypercalcaemia After Years on The Ketogenic Diet: A Novel Case Report

Sandy Jessica , Cocca Alessandra , Cheung Moira , Lumsden Daniel , Sakka Sophia

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

hrp0089p2-p411 | Thyroid P2 | ESPE2018

Awareness of the Risks of Acquired Iodine Deficiency in Strict Vegan Diets

Brandt Agnieszka , Cheung Moira , Sakka Sophia , Ajzensztejn Michal , Hulse Tony

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide but rare in developed countries. Incidence of iodine deficiency may be rising due to increased popularity of vegan diets. There is minimal information on official health promotional webpages alerting to this risk.Case presentation: We present a 2.5yr old boy and his 6yr old sister from a family who adhere to a strict vegan diet and additional dietary restriction i...

hrp0086p2-p964 | Thyroid P2 | ESPE2016

An Unusual Complication of Graves’ Disease

Adesokan Akintayo , Vigneswaran Trisha , Mathur Sujeev , Cheung Moira , Ajzensztejn Michal

Background: Atrioventricular (AV) conduction defects are rare but significant complications of hyperthyroidism. Beta-blockers and co-existent infection further increase the risk of such conduction abnormalities.Objective and hypotheses: We report the case of a 10-year old girl treated for tachycardia and hypertension associated with hyperthyroidism who developed symptomatic 2:1 heart block.Method: Our patient presented with a histo...

hrp0097rfc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Short term side effects of first bisphosphonate infusion in children with different underlying bone pathologies.

Cheung Moira , Raimann Adalbert , Semler Oliver , Högler Wolfgang

Background: Bisphosphonates act to increase bone mass by inhibition of osteoclastic bone resorption and reduction of bone turnover. Since the successful use of bisphosphonates in children with osteogenesis imperfecta, a broad range of pediatric indications with variable underlying pathomechanism emerged. While the use of bisphosphonates appears to be safe in children, data on risk factors for acute-phase reaction are sparse. A systematic characterization of si...

hrp0095fc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Derivation of local reference intervals for serum phosphate to improve diagnosis of Hypophosphataemic rickets

Thomas Maria , Anand Binu , Park Soo-Mi , Cheung Moira , Thankamony Ajay , Oddy Sue

Background: Hypophosphataemic rickets is a rare, and challenging condition to diagnose as the biochemical and radiological features are subtle compared with the more common calcipaenic rickets. Retrospective review of 4yr-old girl with PHEX mutation initially managed as Blount’s disease with surgery showed low (0.93 mmol/l), but within reference interval phosphate levels at initial presentation which caused some diagnostic uncertainty. Paediatric phospha...

hrp0095rfc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Bone biopsy histomorphometric features of vertebral changes in sickle cell disease.

Sakka Sophia , Nadar Ruchi , Inusa Baba , Cocca Alessandra , Santos Rui , Cheung Moira

Background: Vertebral changes such as biconcave end plate depressions are well described in children with sickle cell disease (SCD). However, as vertebral height reductions are a marker of osteoporosis in children, we aimed to determine whether these could present underlying osteoporosis, by performing transiliac bone biopsies in two patients.Case 1: A 13-year-old female with SCD, presented with back pain. She had delaye...

hrp0095p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Report of the first paediatric case of hypercalciuric hypocalcaemia managed with simultaneous parathyroid and kidney transplantation

Oprea Alina , Jones Helen , Buck Jackie , Kessaris Nicos , D. Sinha Manish , Ware Nick , Cheung Moira

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

hrp0095p1-219 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Use of Zoledronic acid in children with sickle cell disease: a single centre experience

Nadar Ruchi , Santos Rui , Cheung Moira , Cocca Alessandra , Inusa Baba , Sakka Sophia

Children with sickle cell disease (SCD) often suffer from back pain and present with vertebral changes, but the use of bisphosphonates is poorly reported. We present our experience on treating six children with SCD with Zoledronate in a tertiary paediatric endocrinology and haematology centre.Population: Six children with SCD were treated with zoledronate infusions between the years 2016-2021. All children had a history of significant mi...

hrp0089rfc2.5 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Identification of Characteristic Neurological Complications in Infants with Achondroplasia by Routine MRI Screening

Dougherty Harry , Shaunak Meera , Irving Melita , Thompson Dominic , Cheung Moira S

Background: Achondroplasia is the commonest type of skeletal dysplasia with an incidence of 1 in 20,000 and is due to recurrent and dominantly transmitted, activating mutations in Fibroblast Growth Factor Receptor 3 (FGFR3). Complications during infancy include foramen magnum stenosis and hydrocephalus which may lead to neurological morbidity and sudden unexplained mortality. Early detection and appropriate neurosurgical management can prevent these complications. How...