Silver-Russell syndrome: case report

• Published in: Residência Pediátrica Vol. 12; no. 1
• Main Authors: Bravo, Fernanda, Ton, Bárbara, Baldon, Isabella, Bravo, Paula
• Format: Journal Article
• Language: English
• Published: 2022
• ISSN: 2236-6814; 2236-6814
• DOI: 10.25060/residpediatr-2022.v12n2-310

Objective: Silver-Russell syndrome (SRS) is a rare but well-recognized condition associated with classic phenotypic characteristics. This article aims to describe a patient with SRS, in order to help professionals in the diagnosis and adequate therapeutic management, since the early approach results in a better prognosis. METHODS: This is a case report of a male child, 1 year and 4 months old, admitted to an infirmary, who was diagnosed with SRS. Patient information was collected with the family during hospitalization. Analysis of medical records and literature review was also performed. RESULTS: A patient with chronic malnutrition, who had macrocranial physical examination, elongated facies, large ears with low implantation, occipital capillary rarefaction, micrognathia, hypospadias, 5th finger clinodactyly and delayed developmental milestones, received a diagnosis of SRS during hospitalization. Complementary exams ruled out pathologies of the gastrointestinal tract and in the speech-language evaluation, swallowing disorders were not detected. An enteral diet for nutritional recovery was initiated, but the patient maintained insufficient weight gain and an important food aversion, being the patient submitted to gastrostomy. On an outpatient return after hospital discharge, the patient remained low weight gain despite the use of hypercaloric formula and appropriate volume for his age. CONCLUSION: SRS leads to a wide spectrum of abnormal physical characteristics and functional abnormalities. Multidisciplinary monitoring and early, specific intervention are necessary for better management of this group of patients.