Stuve-wiedemann syndrome in a child: a case report

Abstract

Introduction: Stüve-Wiedemann Syndrome was first described in 1971. However, this disease was considered a single entity only a few years later. The syndrome is now known to be an autosomal recessive disorder in which the patient has dysautonomia, bone dysplasia and respiratory distress and eating disorder. Objective: To report the case of a girl with Stuve-Wiedemann Syndrome. Case Description: A 7-year-old female SSG patient presented, at birth, with early neonatal sepsis, septic shock, pneumonia, respiratory acidosis, jaundice without the need for phototherapy, food intolerance, anemia, seizures, interstitial pulmonary edema, myositis and osteomyelitis of the right humerus. After 11 months of follow-up, she was referred to a maternal-fetal clinic for genetic testing to investigate the symptoms. The patient was diagnosed with Stüve-Wiedemann Syndrome. Final Considerations: This disease is considered a primary congenital bone dysplasia, characterized by skeletal and joint changes, bowing of the long bones, episodic hyperthermia, periodic respiratory infections, eating disorders and high mortality. These were facts found in the case of the child presented here. On the other hand, this disease can manifest other symptoms such as fissured tongue and episodes of hyperhidrosis, but it was not found in our patient's case. Rare diseases of genetic origin have a high negative impact on patients' quality of life. However, with the practice of physical activity, patients can have a healthy diet. Swimming practice by SSG presents itself as an extremely important activity for the physical and psychological development of this child, contributing to the improvement of her quality of life.