Ref Number = PITIKA-ASPR0094
Kuntum Basitha , Ardhani Indra Puspita, Hario Widhi Nugroho, Elvia Maryani , Isna Nurhayati,
Eva Musdalifah
OBJECTIVE: Russel silver syndrome (SRS) is a syndrome in which prenatal and postnatal growth failure are associated with other distinct physical characteristics. SRS is sporadic and caused by genetic alteration in chromosome 7 and 11p15. This case report describes severe malnutrition with suspected clinical SRS in a 1-year-old boy.
CASE: A 1-year-old boy presented with chief complaint of no weight gain. He frequently had cough accompanied by fever. He was born at term with history of intrauterine growth restriction and small for gestational age (SGA), weighed 1300 grams, 45 cm in length with head circumference -2SDs at birth. He was then referred to NICU. Physical examination showed microcephaly, prominent forehead, triangular face, and proptosis eyes. Thoracic examination revealed pansystolic murmur grade I 1/6 on left parasternal and rhonchi with no chest retraction. The nutritional status were severe underweight and severely stunted with body weight and length <- 3 SDs, baggy pants and muscle wasting. Chest x-ray revealed bilateral bronchopneumonia, while echocardiography showed ventricular septal defect. Leukocytosis was found in blood count. He frequently vomited while feeding thus we inserted a nasogastric tube for high calories feeding. We assessed the patient with severe malnutrition, bronchopneumonia, ventricular septal defect, and suspected clinical SRS. We treated the patient with antibiotic combination and other supportive management. The patient then referred to a tertiary hospital for more comprehensive approaches.
CONCLUSION: The patient was assessed with suspected clinical SRS based on Netchine-Harbison scoring system, which consist of SGA, postnatal growth failure, relative macrocephaly at birth, protruding forehead and feeding difficulties. Clinical scoring system is helpful to diagnose this rare syndrome in limited resource for genetic confirmation. The presence of congenital heart disease may be related to SRS, particularly to those with 11p15. Referral to a multidisciplinary center for early intervention is necessary for optimum patient’s management.
Keywords: russel silver syndrome, genetic, severe, malnutrition, fever
Disclaimer: The Views and opinions expressed in the articles are of the authors and not of the journal.
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