Report the case of a 9-year-old girl with special education needs, who consults for neuro-cognitive symptoms, short stature, brachydactyly and obesity. The diagnosis was made on the basis of pathognomonic imaging findings and laboratory tests showing hypocalcemia, hyperphosphatemia and increased serum parathyroid hormone (PTH) levels. Due to the hereditary nature of this rare disease, it is important to say that her mother has a similar phenotype. Pseudohypoparathyroidism 1A it is a rare disease, an autosomal dominant familial metabolic disorder with a variable imprinting pattern and inheritance. Results from a specific deficiency of a subunit of stimulatory G protein, manifested by resistance to parathormone and a characteristic phenotype, referred to as Albright hereditary osteodystrophy (AHO). Read More

Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024

Authors: Innocente Natalia, Anoni Maria Clara, Galeano Monica, Lipsich Jose

Keywords: Albright hereditary osteodystrophy, Pseudohypoparathyroidism

Purpose or Case Report: The most common cause of genetic rickets is X-linked hypophosphatemia (XLH) due to an inactivating mutation in the phosphate-regulating neutral endopeptidase X-linked (PHEX) gene. This mutation leads to elevated fibroblast growth factor 23 (FGF23) concentrations and renal phosphate wasting, which causes hypophosphatemic rickets and osteomalacia. Children with rickets often exhibit leg deformities, poor growth, and disproportionate short stature. The primary treatment goal is to correct or at least improve rickets/osteomalacia based on clinical and biochemical parameters. The conventional treatment for patients with XLH consists of oral supplements of inorganic phosphate salts combined with active vitamin D, but in some patients, adherence is poor. There is a new, promising human monoclonal antibody called burosumab. This treatment specifically targets the excessive activity of XLH by improving renal phosphate reabsorption and promoting intestinal phosphate absorption through the stimulation of 1,25-dihydroxyvitamin D production. Thus, enhancing phosphate homeostasis in these children, burosumab increases serum phosphate levels, alleviating symptoms, and leading to a reduction in skeletal and muscular complications. The purpose of this article is to assess the radiographic images of 7 patients with congenital rickets under treatment with borusumab, using the Rickets Severity Score (RSS). Read More

Meeting name: SPR 2025 Annual Meeting , 2025

Authors: Anoni Maria Clara, Galeano Monica, Gonseski Vivia Carolina, Sanchez Salinas Paola

Keywords: Pediatric, Bone Density, X-Ray

The objective of this review is to summarize the earliest radiological findings of AMC (arthrogryposis multiplex congenital), detail the most frequently affected joints, identify associated syndromes, and expose the radiological findings in children whose therapy was delayed. Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Infante Ignacio, Mackintosh Cecilia, Anoni Clara, Otero Eduardo, Galeano Monica

Keywords: joint contractures, associated syndromes, pediatric radiology