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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p3-639 | Bone | ESPE2015

Is Serum Serotonin Involved in the Bone Loss of Young Females with Anorexia Nervosa?

Maimoun Laurent , Guillaume Sebastien , Lefebvre Patrick , Philibert Pascal , Bertet Helena , Picot Marie-Christine , Gaspari Laura , Paris Francoise , Mariano-Goulart Denis , Renard Eric , Sultan Charles

Objective: Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation.Methods: Serum serotonin, markers of bone turnover (osteocalcin (OC), procollagen type 1 N-terminal propeptide (PINP), type 1-C telopeptide breakdown prod...

hrp0084p3-640 | Bone | ESPE2015

Cranial MR Spectrometry Findings of Patients Aged 10–15 Years with Diagnosis of Rickets

Dogan Murat , Aydin Ilyas , Bala Keziban Asli , Kaba Sultan , Gulpinar Ozlem

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects, even different functions of vitamin D has been studied by advocating that vitamin D should be classified as a neurosteroid. It has been long known that vitamin D deficiency, VDR dysfunction, hyperparathyroidism and hypervitaminosis are potential causes for sensorineural ...

hrp0084p3-641 | Bone | ESPE2015

Evaluation of Bone Geometry, Quality and Bone Markers in Children with Type 1 Diabetes

Longhi Silvia , Franceschi Roberto , Cauvin Vittoria , Gallo Giuseppe , Lupi Fiorenzo , Reinstadler Petra , Radetti Giorgio

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children wi...

hrp0084p3-642 | Bone | ESPE2015

Comparison of Treatment Alternatives for Hypercalcemia due to Vitamin D Intoxication in Children

Demir Korcan , Doneray Hakan , Yesilkaya Ediz , Kara Cengiz , Atay Zeynep , Cetinkaya Semra , Cayir Atilla , Anik Ahmet , Eren Erdal , Demirel Fatma , Yilmaz Gulay Can , Ergur Ayca Torel , Kendirci Mustafa , Aycan Zehra , Bereket Abdullah , Aydin Murat , Orbak Zerrin , Ozkan Behzat

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system ( to collect data of chil...

hrp0084p3-643 | Bone | ESPE2015

Influence of Birth Weight and Total Body Less Head Bone Mineral Contents in 10–18 Korean Adolescents: Results from the Korea National Health and Nutrition Examination Surveys 2008–2010

Cho Won Kyoung , Lee Yoonji , Ahn Moonbae , Jeon Yeon Jin , Jung In Ah , Kim Shin Hee , Park So Hyun , Jung Min Ho , Suh Byung-Kyu

Background: In adolescents, as much as 51% of peak bone mass is accumulating and reaching 40% of bone mineral density (BMD) of adults. There are inconsistent reports on the associations between birth weight (BW) and bone mineral contents (BMC) in adolescents.Objective and hypotheses: We try to investigate the association between BW and BMC in adolescents.Method: Dual-energy x-ray aborptiometry assessment (DXA) of 10–18 adolesc...

hrp0084p3-644 | Bone | ESPE2015

Clinical and Molecular Characterisation of Patients with Pseudohypoparathyroidism

Kang Eungu , Kim Yoon-Myung , Cho Ja Hyang , Kim Gu-Hwan , Choi Jin-Ho , Yoo Han-Wook

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphataemia and Albright hereditary osteodystrophy (AHO), resulting from abnormalities of GNAS.Objective and hypotheses: This study investigated clinical features, outcomes, molecular characteristics of patients with PHP and pseudopseudohypoparathyroidism (PPHP).Method: Thirty one patients (15 males and 16...

hrp0084p3-645 | Bone | ESPE2015

Long Term Effects of Bisphosphonate Treatment in a Case with Infantile Onset Severe form of Juvenile Paget’s Disease

Gonc E Nazli , Ozon Z Alev , Buyukyilmaz Gonul , Alikasifoglu Ayfer , Simsek Ozlem , Kandemir Nurgun

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...

hrp0084p3-646 | Bone | ESPE2015

Diagnosis and Management of Gorham-Stout Disease: A Protocol Proposal

Iorgi Natascia Di , Godano Elisabetta , Mascio Alberto Di , Vercellino Nadia , Napoli Flavia , Dalmonte Pietro , Maghnie Mohamad

Background: Gorham-Stout syndrome (GSD) is a rare disorder characterized by lymphangiomatosis, osteolysis and potentially lethal in the presence of chilothorax.Objective and hypotheses: As the management of GSD is not univocal and outcomes are unpredictable we build a multifaced protocol in order to study its natural history, biomarkers of bone disease and to treat uniformly patients.Method: Seven patients (five males, two females,...

hrp0084p3-647 | Bone | ESPE2015

Vitamin D Dependent Rickets Type 1A with Genetic Analysis in Three Chinese Children

Li Wenjing , Gong Chunxiu , Wei Liya

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...

hrp0084p3-648 | Bone | ESPE2015

A Novel Mutation in CYP24A1 Gene in an Infant with Severe Hypercalcaemia and Unique Neurological Presentation

Levy-Shraga Yael , Pinhas-Hamiel Orit , Dinour Dganit , Modan-Moses Dalit

Background: Loss of function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have been recently identified in idiopathic infantile hypercalcemia (IIH), a rare entity which may lead to severe complications.Objective: We describe a unique neurological presentation in an infant with IHH due to a novel CYP24A1 mutation.Case presentation: The patient was born at term after normal pregnancy to healthy non-consanguineous parents....

hrp0084p3-649 | Bone | ESPE2015

Continuous 1–34 rhPTH Therapy in a Girl with a PTH-Gene Defect

Ertl Diana-Alexandra , Raimann Adalbert , Haeusler Gabriele

Case presentation: We recently started a 9-year-old girl with hypoparathyroidism due to a mutation in the PTH gene on a pump therapy with 1–34 rhPTH. She has received calcitriol and calcium since the age of 4 months. Bilateral nephrocalcinosis stage II/III was diagnosed at a young age. So far, her renal function remains normal. During the last 18 months symptomatic hypocalcemic episodes have become more frequent despite increased calcium and calcitriol doses. Continuous r...

hrp0084p3-650 | Bone | ESPE2015

Prevalence of Vitamin D Deficiency in Sickle Cell Anaemic Children in Jos, Nigeria

Abok Ibrahim I , Mukuwhana Rensom , Konrad Katja , Okolo Selina

Background: Children with SCA are six times likely to be vitamin D deficient. The prevalence of VDD in SCA is 65–100% (USA, Jeddah, Spain, England). Reasons for these include: recurrent illness, hospitalization, Increase resting energy expenditure, poor appetite, inadequate food intake, increased energy & micronutrient needs and probably excessive body covering. VDD in SCA is associated with increasing co morbidities. However, there are no studies from Nigeria the cou...

hrp0084p3-651 | Bone | ESPE2015

Vitamin D Level and Vitamin D Receptor DNA in Children with Diabetes Mellitus Studying Sequence Analyse and Polimorphism

Dogan Murat , Didin Muazzez , Bala Keziban , Kaba Sultan

Aım: İn this prospective planned study, it was aimed to study relationship between vitamin D level and vitamin D receptor gene polimorphism in patients with type l DM aged 0–18 years old.Methods and materials: We enrolled total 165 children in which 101 new and old diagnosed to WHO criterias TIDM patients from 0–18 years old and 64 chıldren as control group who were matched with gender and age. İn all cases serum Ca, P, PT...

hrp0084p3-652 | Bone | ESPE2015

Endocrine Function, Vitamin D and Bone Mass Status in β-Thalassemia Major

Altincik Ayca , Akin Mehmet

Background: Thalassemia major is a hemoglobin disorder characterized by regular transfusion requirement. Despite the regular transfusions and advanced iron chelation protocols, endocrine complications have been reported as the frequent morbidities of the disease.Objective and hypotheses: The aim of the study was to i) investigate the prevalence of endocrine complications, ii) to examine the relationship between endocrine complications and metabolic param...

hrp0084p3-653 | Bone | ESPE2015

Late Sequel of Meningococcemia: Presenting as Skeletal Dysplasia

Karabulut Gulcan Seymen , Yuksel Aysegul Bute , Alanay Yasemin , Hatun Sukru

Background: Although there is considerable literature dealing with the diagnosis, initial management and early complications of meningococcemia, data about late complications is scarce. Growth plates may be influenced permanently by ischemia leading to late orthopedic complications such as leg length discrepancy, angular deformity and distorted body proportion. We present a patient with disproportionate short stature due to late squeal of meningococcemia who was misdiagnosed a...

hrp0084p3-655 | Bone | ESPE2015

A Longitudinal, Prospective, Long-Term Registry of Patients with Hypophosphatasia

Linglart Agnes , Hogler Wolfgang , Langman Craig , Mornet Etienne , Ozono Keiichi , Rockman-Greenberg Cheryl , Seefried Lothar , Bedrosian Camille , Fujita Kenji P , Cole Alex , Kishnani Priya

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterised by bone mineralisation defects and osteomalacia, and systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase activity, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease s...

hrp0084p3-656 | Bone | ESPE2015

Retrospective Evaluation of Patients Diagnosed as Nutritional Rickets: A Single Centre Study

Karaca Meryem , Cetinkaya Semra Caglar , Keskin Meliksah , Aycan Zehra

Background: Nutritional rickets continues to be an important health care problem. Its incidence has decreased in our country following the free vitamin D distribution that started in 2005 but it continues to stay on the agenda as a preventable disorder.Aim: Our aim was to evaluate patients diagnosed with nutritional rickets following the vitamin D supplementation program.Method: We evaluated patients diagnosed with nutritional rick...

hrp0084p3-657 | Bone | ESPE2015

Discrepancy in Bone Age Rating Using Tanner-Whitehouse Rating and Automated Bone Age Determination in a Child Who was Later Diagnosed with Metaphyseal Dysplasia

Birkebaek Niels , Hellfritzsch Michel

Background: In the last 50 years bone age has been manually evaluated using the method of Tanner and Whitehouse. Recently automated image analysis has been introduced for bone age determination. The automated method shows good agreement with manual evaluation; further, the precision of the automated method may be higher compared to the manual method.Objective and hypotheses: To report on the discrepancy of bone age determination using the manual TW2 meth...

hrp0084p3-658 | Bone | ESPE2015

Vitamin Levels in Pregnant Women and in Cord Blood in Newborn in Our Area – Preliminary Results

del Campo Maria Ruiz , del Prado Yolanda Ruiz , Chocarro Yoana Yerro , Gonzalez Jose Julian Revorio

Background: There is increasing interest in vitamin D nutrition during pregnancy because of widespread reports of a high prevalence of low vitamin D status in pregnant women in high-latitude areas. It has been related to adverse events in mother and child. Neonates present a greater risk of hypocalcaemia, rickets and a higher incidence of infections during the 1st year of life.Objective and hypotheses: Real situation of pregnant women and newborn in rela...

hrp0084p3-659 | Bone | ESPE2015

Vitamin D Status in Romanian Children 0–18 Years – Should we be More Careful Regarding Supplementation?

Chirita-Emandi Adela , Puiu Maria

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

hrp0084p3-660 | Bone | ESPE2015

4 Years Follow-Up for 25OHD and iPTH in Vitamin D Substituted Patients with Diabetes Mellitus 1: An Unicentric Prospective Study

Weissenbacher Claudia , Roeb Julia , Sydlik Carmen , Pozza Susanne Bechtold Dalla , Marx Michael , Schmidt Heinrich

Background: Vitamin D deficiency/insufficiency seems to occur frequently in children and teenagers but it is a matter of debate if limits (<20 ng/ml; <30 ng/ml) are correct. Besides its effect in bone metabolism Vit-D is also supposed to have a positive influence in diabetes mellitus 1 (DM1).Objective and hypotheses: To study 25OHD and iPTH values in a group of patients (pts) (n=57) with DM1 without Vit-D substitution (2011), with 1000 I...

hrp0084p3-661 | Bone | ESPE2015

Bone Mineral Density in Prader-Willi Females During the Transition Phase

Grugni Graziano , Fintini Danilo , Mazzilli Giuliana , Bocchini Sarah , Sartorio Alessandro , Crino Antonino

Background: Adult subjects with Prader-Willi Syndrome (PWS) have low Bone Mineral Density (BMD) and are at risk of osteoporosis. Several observations suggest that peak bone mass is usually achieved by late adolescence, in the presence of adequate gonadal hormone concentrations. Consequently, the altered bone characteristics of PWS patients may be related to inadequate sex steroid levels during pubertal development.Aim: To investigate BMD in PWS females d...

hrp0084p3-662 | Bone | ESPE2015

Seasonal Differences in Plasma 25-OH Vitamin D Concentrations in Cord Blood

Gomez Sandra Ortigosa , Varo Cristina Manzano , Algar Oscar Garcia , Sierra Antonio Mur , Costa Roser Ferrer , Lezcano Antonio Carrascosa , Fernandez Diego Yeste

Background: 25-OH vitamin D levels in newborns depend directly on their mother’s status. In a previous study, 25-OH vitamin D levels were determined in cord blood in a cohort of women after winter months, showing deficient values in 94% of population (mean 25-OH vitamin D value 10.4±6.1 ng/ml). Correlation between low 25-OH vitamin D levels and low sun exposure, dark skin phototype and Indo-Pakistani ethnicity were observed.Objective and hypoth...

hrp0084p3-663 | Bone | ESPE2015

Spondyloenchondrodysplasia with Immune Dysregulation and without Neurological Involvement: Report of Two Siblings with ACP5 Gene Mutation

Guven Ayla , Cebeci Ayse Nurcan , Crow Yanick

Background: Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized by metaphyseal enchondroma-like bone lesions and dysplasia of the vertebrae. SPENCD with immune dysregulation (SPENCDI) describes the syndrome of combined immunodeficiency, autoimmunity and spondyloenchondrodysplasia caused by the mutations in the ACP5 gene on chromosome 19. Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cereb...

hrp0084p3-664 | Bone | ESPE2015

Short Stature in Osteogenesis Imperfecta is not Caused by Deficiencies in IGF1 or IGF-BP3

Semler Oliver , Hoyer-Kuhn Heike , Allo Gabriel , Schoenau Eckhard

Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).Method...

hrp0084p3-665 | Bone | ESPE2015

Vitamin D Status in Children in the Western Part of Turkey

Ozhan Bayram , Evrengul Havva , Agladioglu Sebahat Yilmaz , Yasar Sukru Umit , Demir Suleyman

Background: An optimal vitamin D status is important for the growth and development of bones in children and adolescents. The prevalence of vitamin D deficiency is still high, even in low-latitude and industrialized countries, and vitamin D deficiency in childhood is reemerging as major public health issue.Objectives: To determine the frequencies of 25-hydroxyvitamin D (25(OH)D) deficiency and insufficiency in children and adolescents.<p class="abste...

hrp0084p3-666 | Bone | ESPE2015

Parathyroid Adenoma Should be Considered in the Management of Hypophosphataemic Rickets

Okdemir Deniz , Gul Ulku , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Background: X-linked dominant hypophosphatemic rickets (XLHR) is a rare hereditary metabolic bone disorder. Calcitriol and phosphates are used for the treatment and hyperparathyroidism rarely occurs as a complication. We report a case of XLHR who developed autonomous parathyroid hyperfunction during treatment and underwent surgery for that.Case: A male patient was presented with short stature and bone deformities at age 11 months and diagnosed with XLHR ...

hrp0084p3-667 | Bone | ESPE2015

Neurological Clinic Delays the Diagnosis of Pseudohypoparathyroidism

Teresa Perez Maria , Regina Labra , Zoa Garcia , Ana Llorente

Background: The pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of clinical entities caused by a defect in the peripheral action of parathyroid hormone (PTH). Biochemically it manifests itself with hypocalcemia, hyperphosphatemia and elevated PTH. PHP-Ia is the most frequent and multiple hormone resistance, associated signs of Albright hereditary osteodisfrofia (OHA) and mutations in the gene encoding GNAS Gsa protein.Case presentation: ...

hrp0084p3-668 | Bone | ESPE2015

Treatment of Life Threatening Hypercalcaemia in Two Infants

Helvacioglu Didem , Kilinc Suna , Guven Ayla

Introduction: Physicians often treat patients with high doses of vitamin D for various ailments and on occasion the prescribed doses far exceed the requirements of the patients. We present here two infants with vitamin D intoxication.Case presentation: A 6 month-girl child was brought to the hospital with complaints of persistent vomiting and refusal to feed. She was clinically dehydrated. She was administered 150.000 IU every day for 8 days. Serum calci...

hrp0084p3-669 | Bone | ESPE2015

Comparison of the Levels of Vitamin D in Children in Northern Spain (Domestic or Foreign)

Sarasua-Miranda Ainhoa , Diez-Lopez Ignacio , Lorente-Blazquez Isabel

Background: In recent years, vitamin D is attracting increasing interest due to the resurgence of vitamin D deficiency and rickets in developed countries, identifying their extraesqueletics actions and greater understanding of its many benefits. Vitamin D deficiency in children prevalence of vitamin D deficiency in certain regions described up to 80%, especially at high latitudes (above 37) and some breeds.Objective and hypotheses: To study the degree of...

hrp0084p3-670 | Bone | ESPE2015

A Cause of Severe Hypercalcaemia: Overdose or Hypersensitivity to Vitamin D?

Orbak Zerrin , Yesilcibik Remziye Seda , Unal Bahri

Background: Hypercalcaemia is caused by many different conditions. Vitamin D intoxication with severe hypercalcemia is rare in the neonatal and infancy period. Here we described a 4-month-old male with severe hypercalcemia secondary to taking oral 600 000 units of vitamin D. He was diagnosed vitamin D 24-hydroxylase gene (CYP24A1) mutation after evaluation.Case presentatıon: He was admitted to our hospital with high serum calcium level (23 mg/dl). S...

hrp0084p3-671 | Bone | ESPE2015

How are we Using Bisphosphonates in Children with Secondary Osteoporosis in a Tertiary Centre?

Price Victoria , Hatchard Lynne , Ramakrishnan Renuka , Senniappan Senthil , Dharmaraj Poonam

Background: Bisphosphonates inhibit osteoclast activity, decreasing bone resorption and increasing bone mineral density (BMD). A Cochrane review in 2007 concluded further evidence is required for use of bisphosphonates in children with secondary osteoporosis.Objective and hypotheses: We appraised our current practice of bisphosphonate use in children with secondary osteoporosis (as defined by the 2013 International Society for Clinical Densitometry Posit...

hrp0084p3-672 | Bone | ESPE2015

Pseudohypoparathyroidism: Clinical Heterogeneity Illustrated by Three Different Cases

Lemay Annelies , den Brinker Marieke , Dotremont Hilde , Ceulemans Berten , France Annick

Background: Pseudohypoparathyroidism represents a group of clinical and molecular heterogeneous disorders, characterized by functional hypoparathyroidism, caused by end-organ resistance to the action of PTH. Pseudohypoparathyroidism manifests as hypocalcemia, hyperphosphatemia and elevated plasma levels of PTH. A combination of features, also known as Albright osteodystrophy including disproportionate short stature, obesity, dysmorphia, may co-exist.Case...

hrp0084p3-673 | Bone | ESPE2015

Successful Treatment of Severe Hypercalcemia in an Infant with Williams Syndrome Using a Single Infusion of Pamidronate Followed by Low Calcium Diet

Odeh Rasha , Albaramki Jumana , Alassaf Abeer

Background: 15% of patients with Williams syndrome develop hypercalcemia that is described as mild and transient. There are, however, reported cases with severe hypercalcemia that did not respond to traditional therapy. Pamidronate was used in the treatment of this condition, and was successful in the few reported cases in the literature.Case presentation: We report a 9 month old female who presented with failure to thrive, polyuria and polydipsia. She h...

hrp0084p3-674 | Bone | ESPE2015

25-Hydroxy Vitamin D Levels in Patients with Chronic Diseases on Corticosteroid Treatment

Yordanova Desislava , Stefanova Elissaveta , Kazakova Krasimira , Todorova Zdravka , Dimitrova Mihaela

Background: Corticosteroids are medicines that are used to treat many chronic diseases. They are very effective anti-inflammatory drugs by suppressing the immune system, and are also used as a replacement therapy in conditions with low levels of endogenous cortisol. Glucocorticoid effects on bone metabolism include: reduced absorption of calcium in the intestine; increased calcium urinary excretion; increased bone resorption and reduced bone density. Corticosteroid treatment i...

hrp0084p3-675 | Bone | ESPE2015

Pseudohypoparathyroidism Type 1b, a Rare Diagnosis in Adolescents

Vlachopapadopoulou Elpida-Athina , Dikaiakou Eirini , Karavanaki Kyriaki , Anagnostou Elli , Tsitoura Maria-Eleni , Tsolia Mariza , Mackay Deborah J G , Michalacos Stephanos

Background: Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to parathyroid hormone (PTH), and possibly TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented with fatigue and spontaneous carpal spasms in association with a febrile viral infection. Past medical history was significant for an episode of asymptomatic hypocalcemia treated with...

hrp0084p3-676 | Bone | ESPE2015

What Lies Beneath: An Enigma of Missed Opportunities and Calcium Problem

Hammouche Dalia , Rafiq Anjum , Puthi Vijith

Aim: To highlight the importance of tangential thinking in unusual clinical presentations, and tracking of family history with emergence of index case.Methods: A case review of three siblings presenting with varied symptoms and diagnosis to the different speciality clinic and noted to have Hypocalcaemia.Results: 14 year old boy, diagnosed at age of 3 years with Duchenne’s muscular dystrophy (DMD), confirmed with identification...

hrp0084p3-677 | Bone | ESPE2015

A Novel Homozygous Six Nucleotide Deletion in GLUT2 Gene in a Fanconi–Bickel Syndrome Family

Abbasi Farzaneh , Abbasi Rowshanak , Ghafouri-Fard Soudeh

Background: Fanconi–Bickel syndrome (FBS) is a rare autosomal recessive disorder characterised by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family.Results: Here, we report an Iranian family with two affected siblings. The clinical fin...

hrp0084p3-678 | Bone | ESPE2015

Final Height in a Patient with Fanconi Syndrome and GH Deficiency Treated with GH

Schmitt-Lobe Maria Claudia , Salm Leticia , Dadan Lais

Background: The Fanconi syndrome (FS) and GH deficiency (GHD) is a rare association. The FS is a dysfunction in the proximal tubule that can be idiopathic or primary. This dysfunction leads to renal loss of bicarbonate, phosphate, glucose, potassium and amino acids. One of the clinical feature is a delay in body growth. The correction of acidosis can protect the loss of growth. According to the prevalence of idiopathic GHD, it would be expected that 1 in 4 000 patients and, wi...

hrp0084p3-679 | Bone | ESPE2015

Carpal Spasm in Hypophosphataemic Patient

Lee Sanghyun , Sim Yeji , Kim Heungsik

Background: Phosphate is an essential ion and plays a vital role in many physiological processes. Carpopedal spasm is known as a symptom of hypocalcaemia, or rarely, hypomagnesemia. We present an unusual case of carpal spasm seen in hypophosphataemia.Case presentation: 14 year old boy was admitted with acute onset of both carpal spasm. He had shrimp salad made 2 days ago, and two times of vomiting and large amount of diarrhea was developed before carpope...

hrp0084p3-680 | Bone | ESPE2015

Efficacy and Safety of Oral Alendronate Treatment in Children and Adolescents with Osteoporosis

Buyukgebiz Atilla , Bober Ece , Abaci Ayhan

Background: Osteoporosis is very rare in childhood and main reasons are growth retardation, immobilisation, calcium and vitamin D deficiency, long term steroid therapy. There is no concensus about the treatment of children and adolescents with osteoporosis. Biphosphonates have been important in the treatment of osteoporosis.Objective and hypotheses: To evaluate the efficacy and safety of oral alendronate on bone mineral density (BMD) in children and adol...

hrp0084p3-681 | Bone | ESPE2015

A Case of Vitamin D Deficient Rickets Showing Resistance to the Treatment of Active Vitamin D: Severe Calcium Deficiency Cause Vitamin D Resistance

Tanaka Hiroyuki , Hasegawa Kosei , Takatsuka Moe , Okahara Chika , Noguchi Yoshie , Takata Tsutomu , Ogura Kazuo

Case presentation: A 2-year-boy was referred tour hospital for the rickets. He was the first son between non-consanguineous parents and fed with breast milk. But after weaning, he was avoided from taking egg, dairy products including cow’s milk. He was also suffered from developmental delay and had strong food preference. He could take only two kinds of foods, steamed rice and soy bean product, tofu. X-ray findings showed typical rachitic change on long bone metaphysis. L...

hrp0084p3-682 | Bone | ESPE2015

Metadiaphyseal Dysplasia Associated with Confirmed GH Deficiency: Family Report

Armasu Ioana , Braha Elena , Crumpei Iulia , Vasiliu Ioana , Manolachie Adina , Puiu Mirela , Zetu Irina , Mogos Voichita , Vulpoi Carmen

Background: Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton.Case presentation: We present two children (brother 7 years and sister 11 years), investigated for growth retardation, part of five children brotherhood from apparently healthy non-consanguineous couple (mother’s height=158 cm and father’s height=16...

hrp0084p3-683 | Bone | ESPE2015

Hypocalcaemia by Parathyroid Dysfunction in Children and Adolescents

El Mahdi Haddam Ali , Fedala Soumeya Nora , Chentli Farida , Meskine Djamila

Background: Dysfunction of the parathyroid gland is a rare cause of hypocalcaemia. It may be caused by a deficiency or resistance to PTH. Generally symptomatic It can be hereditary, congenital or acquired.Objective and hypotheses: Analysis of clinical, paraclinical, etiological and progressive children’s and adolescents hypocalcaemia by parathyroid dysfunction.Method: This is a retrospective study of hypocalcaemia by parathyro...

hrp0084p3-684 | Bone | ESPE2015

VDR Gene Analysis Results of Four Patients with Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets

Papatya Cakir Esra Deniz , Aldemir Ozgur , Ucakturk SeyitAhmet , Eren Erdal , Ozen Samim

Background: Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) caused by vitamin D defective receptor.Objective and hypotheses: We performed VDR gene analysis four patients with alopecia, skeletal dysplasia, and hypocalcaemia.Method: Genomic DNA extracted from peripheric blood. Whole gene sequence analysis was performed.Results: We found homozigot p.Q152* (c.454G>T) mutation three patients. Two ...

hrp0084p3-685 | Bone | ESPE2015

Nutritional Rickets in a Bottle-Fed 2 Months Old Baby

Solis Maria Magdalena Hawkins , de Alvare Ana Dolores Alcalde , Yebra Yebra Julia , Pose Araceli Garcia , Martinez Ana Sancho

Background: Nutritional rickets (NR) is the most common growing bone disease, and vitamin D deficiency (VDD) may predispose to other diseases (diabetes mellitus, cancer, and multiple sclerosis). Maternal VDD and exclusive breastfeeding without supplementation are the most frecuent causes of NR in the neonate. VDD is still a problem in Europe. There are few reports of maternal hypovitaminosis D and rickets in bottle-fed infants during early infancy. We report a case of Nutritio...