ESPE Abstracts

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...

Aim: Case report of an 18-month-old child with a background of vitamin D dependent rickets type 1(VDDR1)], due to a mutation of CYP27B1 (c.1319_1325dup and c.335C>T: compound heterozygote).Methods: Presentation of the case and the management of hypocalcemia as well as the complications of follow-up.Results: The patient presented at the A&Es of the 2nd Department of Pediatric...

Background: Hypophosphatasia (HPP) is an inherited bone disorder caused by ALPL gene mutations. It is classified into 6 clinical types (perinatal lethal form, prenatal benign form, infantile form, childhood form, adult form, and odontohypophosphatasia). Severe types show autosomal recessive inheritance, and mild types show autosomal recessive or autosomal dominant inheritance. The adult form is asymptomatic in childhood. Treatment includes ALP enzyme ...

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare mosaic disorder caused by somatic gain-of-function RAS mutations. It is characterized by segmental epidermal nevi and fibroblast growth factor-23 (FGF23) mediated hypophosphatemic rickets. These patients also have dysplastic cortical skeletal lesions. We describe an Emirati child with CSHS whose hypophosphatemic rickets and dysplastic skeletal lesions failed to heal due to poor adherence to conventional oral phospha...

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-secreted hormone that regulates phosphorus homeostasis, result in renal phosphate wasting leading to rickets or osteomalacia. Patterns leading to FGF23 excess are still unknown. Recently, FGF23 elevated rickets has been associated with epidermal nevus syndrome, designating the cutaneous skeletal hypophosphatemia syndrome (CSHS). The clinical picture is not completely defined as, to date, only a...

Background: SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family, a group best known for its ability to methylate their substrate and, by that, regulate gene expression. Heterozygous pathogenic variants in SETD5 are known to cause neurodevelopmental delay. We present two children with pathogenic variants in SETD5 and vertebral fractures with low bone mass. Individual 1 This 15-year old male of Caucasian an...

Background: Kenny–Caffey syndrome 2 (KCS 2) is a rare cause of hypoparathyroidism, characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.Objective: We report the case of a 4-years’-old boy, who presented with the characteristic, and newly identified clinical, biochemical, radiological and genet...

Introduction: Prader-Willi syndrome (PWS) is a rare congenital neurodevelopmental disorder characterized by hyperphagia, growth hormone (GH) deficiency, short stature, and low bone mineral density. The mechanisms concerning bone metabolism disturbances in these patients are still unclear. An important role in the process of bone formation is played by osteocalcin (OC), the most abundant non-collagen protein of the bone matrix. OC has three potential gamma-carb...

Osteogenesis imperfecta, also known as "brittle or glassy bone disease", is a connective tissue disease that occurs as a result of quantitative and qualitative changes in type 1 collagen. The disease is transmitted in an autosomal dominant way and the incidence is 1:20,000.The aim: of the study was to evaluate the clinical characteristics and treatment of children diagnosed with osteogenesis imperfecta in children.<p class=...

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

Introduction: Bone mineral density (BMD) is affected not only by genetic and enviromental causes, but various hormonal factors. It seems reasonable to seek for dependencies between BMD and paediatric endocrinopathies. The aim of the study was to assess the frequency of decreased BMD in children with several endocrinological disorders and evaluate the influence of selected auxological and hormonal parameters on their BMD.Materials...

XY, 14 years old, was born at term, birth weight 4900 g, length 54 cm. No problems reported in the early years of life. Due to recurrent abdominal pain for several years associated with dyspepsia, at 13 years he performed blood tests, with evidence of hypocalcemia (6.1 mg/dl) and hyperphosphatemia (8.6 mg/dl). For this reason, he was admitted to our ward: the weight was Kg 67.1 (1.8 SDS), height 168 cm (1.5 SDS), pubertal stage 4, objective examination in the norm. The exams p...

Aggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. A heterozygous ACAN mutation has been reported as a major cause of idiopathic short stature, it causes an accelerated bone age maturation and premature growth cessation. Recently, the effectiveness of GH treatment for achieving an appropriate adult height has been reported in several cases with ACAN mutations. We report the case of a 3 years and 2 months old boy, with ...

Background: N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) is a recently established rare autosomal recessive disease caused by pathogenic variants in NANS involved in the biosynthesis of N-acetylneuraminic acid (the most common member of sialic acids). Sialic acids are ubiquitously distributed in the body including the brain and skeletal system, and are required for the development and function of multiple organs/tissues. C...

Spondylo-epimetaphyseal dysplasia -ACAN (SEMD- ACAN) is a rare form of osteo-chondrodysplasia that represents a group of vertebral, epiphyseal, and metaphyseal dysplasia. This genetic condition is caused by biallelic loss-of-function mutations in the ACAN gene, which encodes for aggrecan, an essential component of the extracellular matrix in cartilage. Biallelic loss-of-function mutations in this gene result in a range of characteristic symptoms, including disproportionate sho...

We describe a 5 years-old patient referred to our centre for dysmorphic features and delayed psychomotor development. Negative family history, second child, full-term birth, eutocic delivery, regular growth parameters at birth and neonatal adaptation. Autonomous walking at 20 months with clumsiness; first words at 2 years with dysarthria and dysphagia. Brain MRI and array-CGH were normal. At the neurological examination: perioral hypotonia, sialorrhea, praxic difficulties. At ...

A 17-year-old girl comes to our attention for a second opinion due to reduced bone mineralization. She has a family history of osteogenesis imperfecta: her mother and younger sister have a COL1A1 mutation. The girl never had any fractures, but considering the familiarity it was carried out a DEXA, showing a Z-score of -1.9 SDS at the femoral level and -2 SDS at the lumbar level; no fractures visible in the spine X-ray. The genetic analysis of COL1A1 was carried out, which came...

Background: Fibrous dysplasia (FD) is rare disease that affects skeletal system characterized mostly by abnormal bone formation. The newly formed disorganized mass includes fibrous tissue with poorly organized immature trabeculae. FD is a highly incapacitating condition where fractures, deformities and consecutive functional impairment could occur as mono, olygo or polyostotic form. Aside from predominantly asymmetric skeletal involvement, extra-skeletal manif...

Transversal study. Patients from 0 to 17 years of age who had undergone an analytical determination of 25OHD during the year 2021 in our hospital were collected. The following were contrasted: 25OHD, PTH, total calcium, age, sex, reason for requesting analysis, time of year and country of origin. 25OHD ranges: normal >30 ng/mL, suboptimal 20-30 ng/mL and deficit <20 ng/mL; and normal PTH: 9-60 pg/mL.Results: 1. Prevalence of vitami...

Background: Hypophosphatasia (HPP) is a rare inherited disease of bone metabolism caused by inactivating mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSAP). Infantile HPP is characterized by early onset abnormal skeletal mineralization with hypercalcemia and low alkaline phosphatase (ALP). It has been rarely reported from Thailand, resulting in limited disease awareness. We reported an infantile HPP Thai patient who p...

Introduction: Osteogenesis imperfecta (OI) is a rare heterozygous disorder of collagen production. It is characterized by low bone mass, bone fragility, blue sclera, and progressive hearing loss. Expanded Sillence Classification divides OI into 7 types with Type I OI as the mildest and commonest form. Hyperplastic callus (HC) is a rare but characteristic complication in patients with OI type V. We report a infant with Type I OI with hyperplastic callus.<p ...

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). The syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, often alopecia and severe hypocalcemia.Objectives: To study the effectiveness of our designed protocol of continuous high dose intracaval calcium infusion for the tre...

X-linked hypophosphataemia (XLH) is a dominant disorder caused by mutations in PHEX (located at Xp22.1), associated with rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children. The characteristics and severity of XLH vary between patients. Early diagnosis and specific treatment is usually decisive to improve short and long term patient outcomes. We describe the variability of phenotype in two sisters carrying the ...

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same pre...

Background: XLH is a rare, genetic, life-long disease caused by PHEX pathogenic variants. It is associated with progressive accumulation of musculoskeletal features and symptoms that evolve across the patient’s lifetime if untreated. Although the disease is well characterised in children and adults, there are limited data describing the health outcomes and experiences of adolescents, particularly at end of skeletal growth (EOSG), a crucial phase during t...

Introduction: X Linked hypoposphatemic rickets (XLH) is a rare genetic disorder characterized by variable clinical features. It is often misdiagnosed with other types of rickets. A novel effective treatment is currently available. We report four cases of XLH who presented to our centre over a period of five years and describe their clinical presentation, diagnostic, treatment challenge and outcome.CASE 1 -The child presented with short s...