hrp0097p1-225 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Acrodysostosis: a case report

Pitea Marco , Crocè Ludovica , Sala Elisa , Lanzafame Ruggero , Mora Stefano

A 2.6-year-old girl of Egyptian origins comes to our attention due to a deflection of the growth rate. The girl was born small for gestational age (SGA), and is affected by congenital hypothyroidism, with normal sized thyroid, treated with Levothyroxine. At the age of 1.8, due to right lameness, an x-ray of pelvis and lower limbs was performed, as indicated by the orthopaedic. The examination showed absence of the distal tibial ossification nucleus in the right leg and entangl...

hrp0097p1-423 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Craniosynostosis in hypophosphatasia

Pitea Marco , Sala Elisa , Ruggero Lanzafame , Crocè Ludovica , Mora Stefano

Hypophosphatasia (HPP) is a rare genetic disease caused by mutations with loss of function in the ALPL gene, which encodes for non-specific tissue alkaline phosphatase (TNSALP). We report a case of infantile hypophosphatasia. Due to positive family history for hypophosphatasia, a chorionic villus sampling was made, with evidence in composed heterozygous of variants c.407G>A and c.1489T>C in the ALPL gene. At birth the patient did not have clinical complications, however ...

hrp0095p1-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Pain as an onset symptom in hereditary hypophosphatemic rickets with hypercalciuria, a case report.

Sala Elisa , Pitea Marco , Lanzafame Ruggero , Mora Stefano , Vezzoli Giuseppe , Barera Graziano

We report a case of hereditary hypophosphatemic rickets with hypercalciuria (Hereditary Hypophosphatemic Rickets with Hypercalciuria, HHRH) in a 13-year-old boy, referred for evaluation due to the onset of bilateral knee pain for about two years. Pain was intermittent and walking limiting and negatively affected quality of life. Negative family history of bone/joint pathologies and kidney stones. The parents are consanguineous (first cousins), have normal stature and no histor...

hrp0095p1-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Osteogenesis imperfecta: the effectiveness of bisphosphonates

Lanzafame Ruggero , Weber Giovanna , Mora Stefano , Pitea Marco , Sala Elisa , Barera Graziano

Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility and an increased risk of fractures. Intravenous bisphosphonates are the current gold standard for the treatment of OI: the aim of this therapy is an increase in Bone Mass Density (BMD) and a consequent reduction in pathological fracture rates. Currently, the only bisphosphonate approved in Italy for pediatric population is neridronate, infused in hospital once every four months. In San Raffa...

hrp0095p1-476 | Fat, Metabolism and Obesity | ESPE2022

Do Integrase Inhibitors Alter Body Composition in Young Patients Living with Hiv? The Experience with A Dolutegravir-Based Regimen

Mora Stefano , Genovese Camilla , Stracuzzi Marta , Sala Elisa , Lanzafame Ruggero , Pitea Marco , Giacomet Vania

Medical antiretroviral treatment changed dramatically the course of the infection and life expectancy of people living with HIV (PLWH). However, age-dependent morbidity and mortality remains high, mostly due to non-HIV related conditions. Among others, cardiovascular diseases is nowadays an important cause of morbidity in PLWH. Integrase inhibitors are now part of the standard treatment scheme, because of their efficacy and tolerability. However, recent reports showed an impor...

hrp0095p2-39 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

An anomalous gait

Lanzafame Ruggero , Pitea Marco , Sala Elisa , Del Barba Paolo , Pia Guarneri Maria , Balzano Emanuela , Barera Graziano

A 5-year-old Moroccan patient comes to our attention due to impaired gait with pain in the lower limbs, easy fatigue and poor gain in weight and stature. In the previous months he had some episodes of abdominal pain. During our first physical examination he was pale, with diffuse muscular hypotrophy, uncertain gait with an enlarged base, dubious hypertrophy of the calves and Gowers' sign. No varus / valgus of the lower limbs. Symmetrical and normo-evocable osteotendinous ...

hrp0092p3-144 | GH and IGFs | ESPE2019

A Case of Paediatric GH-secreting Pituitary Adenoma Apoplexy

Partenope Cristina , Gallo Dario , Pitea Marco , Pajno Roberta , Weber Giovanna , Barera Graziano , Cinzia Pozzobon Gabriella

Background: Paediatric pituitary adenomas comprise rare but challenging pathologies in children and adolescents related to their endocrine and neurological characteristics.Objective and Hypotheses: We aimed to describe a case report of growth hormone (GH)-secreting pituitary adenoma apoplexy.Method: a 11-year-old girl presented with fever, sudden headache with vomiting. She abruptl...

hrp0092p3-205 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Childhood Craniopharyngioma: A Single Centre Experience

Gallo Dario , Partenope Cristina , Pajno Roberta , Pitea Marco , Weber Giovanna , Barera Graziano , Pozzobon Gabriella Cinzia

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

hrp0089p2-p045 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

An Unusual Case of Hypophosphatemia in a Child Affected by Di George Syndrome

Kalapurackal Mila Ann , Barzaghi Federica , Pitea Marco , Cassano Gilda , Weber Giovanna

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

hrp0089p2-p259 | Growth & Syndromes P2 | ESPE2018

Unusual Case of Combination of Beckwith-Wiedemann Syndrome and SHOX Gene Deficiency

Cassano Gilda , Osimani Sara , Pajno Roberta , Pitea Marco , Partenope Cristina , Russo Silvia , Pozzobon Gabriella

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...