Tag Archives: child

RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology

DOI: 10.2478/jccm-2022-0007

Introduction: Noonan syndrome (NS) is a dominant autosomal disease, caused by mutations in genes involved in cell differentiation, growth and senescence, one of them being RAF1 mutation. Congenital heart disease may influence the prognosis of the disease.
Case presentation: We report a case of an 18 month-old female patient who presented to our institute at the age of 2 months when she was diagnosed with obstructive hypertrophic cardiomyopathy, pulmonary infundibular and pulmonary valve stenosis, a small atrial septal defect and extrasystolic arrhythmia. She was born from healthy parents, a non-consanguineous marriage. Due to suggestive phenotype for NS molecular genetic testing for RASopathies was performed in a center abroad, establishing the presence of RAF-1 mutation. Following rapid progression of cardiac abnormalities, the surgical correction was performed at 14 months of age. In the early postoperative period, the patient developed episodes of sustained ventricular tachycardia with hemodynamic instability, for which associated treatment was instituted with successful conversion to sinus rhythm. At 3-month follow-up, the patient was hemodynamically stable in sinus rhythm.
Conclusions: The presented case report certifies the importance of recognizing the genetic mutation in patients with NS, which allows predicting the severity of cardiac abnormalities and therefore establishing a proper therapeutic management of these patients.

Full text: PDF

Serratia marcescens Sepsis in a Child with Deep Venous Thrombosis – A Case Report

DOI: 10.2478/jccm-2018-0004

Introduction: Venous thromboembolism is a rare condition in paediatrics that included both deep venous thrombosis and pulmonary embolism. Serratia marcescens is a gram-negative bacterium that belongs to the Enterobacteriaceae family and tends to affect immunocompromised hosts.
Case report: We report the case of an 11-year-old boy, admitted in the Pediatric Clinic I from Emergency County Hospital Tîrgu Mureș, Romania with intense pain, swelling, cyanosis and claudication of the left foot. His personal history revealed a recent appendectomy. A close family was reported to have had a deep venous thrombosis. The laboratory tests, performed on the day of admission, revealed increased inflammatory biomarkers and D-dimer. Coagulation tests gave a low activated partial thromboplastin time (APTT). Doppler venous ultrasound and CT-exam established a diagnosis of deep venous thrombosis. Anticoagulant therapy was initiated, but on the tenth day of admission, the patient developed signs and symptoms of sepsis, and the blood culture revealed Serratia marcescens. After antibiotic and anticoagulant therapy, the patient progressed favourably. The patient was a carrier of the heterozygous form of Factor V Leiden.
Conclusions: The association between deep venous thrombosis and Serratia marcescens sepsis can compromise a condition in pediatric patients.

Full text: PDF

Lung Abscess Remains a Life-Threatening Condition in Pediatrics – A Case Report

DOI: 10.1515/jccm-2017-0023

Pulmonary abscess or lung abscess is a lung infection which destroys the lung parenchyma leading to cavitations and central necrosis in localised areas formed by thick-walled purulent material. It can be primary or secondary. Lung abscesses can occur at any age, but it seems that paediatric pulmonary abscess morbidity is lower than in adults. We present the case of a one year and 5-month-old male child admitted to our clinic for fever, loss of appetite and an overall altered general status. Laboratory tests revealed elevated inflammatory biomarkers, leukocytosis with neutrophilia, anaemia, thrombocytosis, low serum iron concentration and increased lactate dehydrogenase level. Despite wide-spectrum antibiotic therapy, the patient’s progress remained poor after seven days of treatment and a CT scan established the diagnosis of a large lung abscess. Despite changing the antibiotic therapy, surgical intervention was eventually needed. There was a slow but steady improvement and eventually, the patient was discharged after approximately five weeks.

Full text: PDF

Staphylococcal Scalded Skin Syndrome in Child. A Case Report and a Review from Literature

DOI: 10.1515/jccm-2016-0028

Staphylococcal scalded skin syndrome (SSSS) is the medical term used to define a skin condition induced by the exfoliative toxins produced by Staphylococcus aureus. The disorder is also known as Ritter disease, bullous impetigo, neonatal pemphigus, or staphylococcal scarlet fever. The disease especially affects infants and small children, but has also been described in adults. Prompt therapy with proper antibiotics and supportive treatment has led to a decrease in the mortality rate.
The current case report describes the clinical progress of a patient with generalized erythema and fever, followed by the appearance of bullous lesions with tendency to rupture under the smallest pressure, and with extended areas of denudation.
The patient aged four years and six months was admitted to our clinic to establish the aetiology and treatment of a generalized bullous exanthema, followed by a skin denudation associated with fever and impaired general status.
Based on clinical and paraclinical examinations a diagnosis of Staphylococcal scalded skin syndrome was established which responded favourably to antibiotic treatment, hydro-electrolytic re-equilibration, and adequate local hygiene.
Staphylococcal infection can represent a problem of significant pathological importance sometimes requiring a multidisciplinary approach involving paediatricians, dermatologists, infectious diseases specialists, and plastic surgeons.

Full text: PDF