337 Department of Pediatrics, Clinical Hospital Centre Zagreb. (11th October 2021)

• Record Type: Journal Article
• Authors: Čičak, Ivana; Novak, Milivoj; Cvitković, Miran; Galić, Slobodan; Matić, Toni; Rubić, Filip; Malčić, Ivan; Šarić, Dalibor; Bartoniček, Dorotea; Dilber, Daniel; Belina, Dražen; Benjak, Vesna; Dasović-Buljević, Andrea; Grizelj, Ruža; Filipović-Grčić, Boris; Ninković, Dorotea; Vuković, Jurica; Omerza, Lana; Aničić, Mirna; Antabak, Anko; Ćuk, Mario
• Is Part Of: Archives of disease in childhood. Volume 106(2021)Supplement 2
• Page Start: A142
• Page End: A142
• Publication Date: 2021-10-11
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2021-europaediatrics.337
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : We report the case of a full term male child with multiple organ dysfunctions caused by mutations of the TTN gene. Our patient had cardiac abnormalities verified by fetal echocardiography at 26 weeks of gestational age, when fetal hydrops due to cardiac decompensation was shown. Due to specific appearance seen at birth – generalized oedema, light facial and sexual dimorphism with hypogenitalism and chryptorchidism, axial hypotonia in addition to the proven congenital heart defects, a genetic disorder or syndrome with muscle involvement was suspected. Multiple comorbidities were present since birth, mainly cardiac and neurologic, some of which have been described in patients with core myopathies (atrial and ventricular septal defects, supraventricular tachycardia, hypotonia, developmental delay, myopathy). Due to the complexity of the heart defect at the age of 2 months a partial pulmonary trunk banding and ligation of the ductus Botalli (PDA) was initially carried out, and at 9 months a complete correction of heart defect was performed. Our patient also had failure to thrive as well as recurrent vomiting, wich was later on asociated with extraluminal compression of the proximal duodenum, intestinal malrotation and malfixation. Although a surgical approach somewhat increased tolerance of peroral food intake, chronic diarrhoea and failure to thrive persisted. In addition, our patient had several metabolic and endocrine disorders including hypocalcemia, hypomagnesemia, hyponatremia, repeatedly elevated levels of PTH, hypothyroidism etc. Our patient had recurrent, mainly respiratory infections with multiresistant microorganisms, and recuired intubation and long-lasting mechanical ventilation. The above mentioned multiple disorders of various organ systems, with complications caused by multiple sepses, ultimately resulted in multiorgan failure, and despite all the applied treatment at the ICU, resulted in a lethal outcome. Coresponding findings described in other patients with core myopathies included neonatal hypotonia, poor suckling, severe motor skill delay, complex heart defects and cardiomyopathy.