Vaikų ligų klinika (K250000)

Background: Pulmonary artery thromboembolism in children is an exceptionally rare condition. Because its clinical presentation and associated risk factors differ from those observed in adults, the condition is frequently underdiagnosed. Case description: We present three cases of paediatric pulmonary artery thromboembolism, each with distinct clinical presentations and differing risk factors. The first case involved a 15-year-old boy who developed fatal massive bilateral pulmonary artery thromboembolism after having spinal trauma, surgery, immobility, and central venous catheter placement. The second case concerned a 17-year-old girl with Prader–Willi syndrome and multiple comorbidities, who presented with severe respiratory failure and laboratory evidence suggesting pulmonary thromboembolism, although imaging to confirm the diagnosis was limited. The third case involved a previously healthy 17-year-old boy with upper-extremity deep venous thrombosis and confirmed pulmonary artery thromboembolism despite the absence of identifiable provoking factors. Conclusions: These cases illustrate the heterogeneity of paediatric PATE presentation, the variability of underlying risk factors, and the diagnostic challenges encountered in clinical practice, underscoring the need for heightened awareness among clinicians.

Įvadas. Istoriškai žarnynas buvo laikomas primityviu organu, skirtu maistinių medžiagų absorbcijai ir atliekų šalinimui. [...].

Introduction and Aim Thrombocytopenia, characterized by a platelet count below 150 x 10⁹/L, affects hemostasis and predisposes patients to bleeding risks. This condition in children can be caused by platelet destruction, sequestration due to hypersplenism, dilutional thrombocytopenia, or impaired platelet production. Hereditary thrombocytopenia is a group of rare conditions (2.7/100000) in which function of genes coding for several molecules involving in the maturation of megakaryocyte, including GP1BA, MYH9, RUNX1, GFI1b, ETV6, etc., is defected by variants. Thrombocytopenia 5 (THC5, MIM #616216) is an autosomal dominant disorder caused by heterozygous mutation in the ETV6 gene. Notably, germline ETV6 variants not only cause low platelet but also account for the risk of hematologic malignancies. Here we report a familial case of hereditary thrombocytopenia linked to a known pathogenic variant in ETV6. Case report We report a 15-year-old male patient with personal and familial history of hematologic abnormalities. The patient was born from the third pregnancy following a complicated delivery with hypoxia. He presented with mild-to-moderate thrombocytopenia (platelet counts: 70–163 × 10⁹/L) and recurrent epistaxis, alongside developmental delay and epilepsy. Diagnostic workups including coagulation profiles and bone marrow biopsy showed no clinically relevant features. However, family history revealed that the older brother died from myeloid leukemia, and the father also has thrombocytopenia. There are multiple cancer cases on the paternal side of the family. Whole-exome sequencing (WES) revealed a heterozygous missense variant in the ETV6 gene (NM_001987.5):c.1105C>T, p.(Arg369Trp) which was confirmed to be paternally inherited. This variant is classified as likely pathogenic based on ACMG/AMP guidelines (Richards et al., 2015), with the criteria of PM2, PS4, PP1, PM5 and PS3. The same variant was also found in bone marrow tissue. Discussion ETV6 is a transcriptional repressor essential for hematopoiesis. Its role in hereditary hematological disease was first defined by Zhang et al. (2015) in an autosomal dominant manner and has a prevalence of 5% among inherited thrombocytopenia. The patient carries the ETV6 p.Arg369Trp variant, located in the DNA-binding ETS domain of the protein, which is known to account for approximately 50% of ETV6 highly deleterious variants found in familial cases. The clinical presentation of this condition is usually unsignificant with incomplete penetrance of mild to moderate thrombocytopenia, normal blood morphology and moderate degree of bleeding tendency. However, the risk of hematological malignancies for the carriers is approximately 20-30%, especially acute lymphoblastic leukemia, along with the impossibility to predict whether and when they will develop a hematological neoplasm. A long-term monitoring, including avoiding certain medications and situations, and a strategy for regular follow-up visits to assess for abnormal signs suggestive of hematological malignancies, is essential. In addition, genetic counseling and testing are crucial in helping to identify additional high-risk family members. Conclusions This case underscores the importance of recognizing ETV6 related hereditary thrombocytopenia by whole exome sequencing in patients with persistent low platelet counts and a suggestive family history. Although the initial clinical findings seem to be mild, the hematologic malignancy predisposition requires long term surveillance and genetic counseling for affected individuals and at risk relatives.

Introduction: Cytomegalovirus (CMV) infection is a leading cause of congenital infection worldwide. Although cardiac involvement has traditionally been considered uncommon, recent evidence suggests that CMV can be associated with myocardial inflammation and clinically significant arrhythmias, particularly in preterm neonates. Furthermore, current myocarditis guidelines emphasize that arrhythmias may be a key manifestation of viral myocardial injury and can occur after the acute phase of infection (1–3). Case report: We present a case of an extremely preterm neonate born at 27 weeks of gestation (birth weight 796g) with normal initial cardiac evaluation according to the gestation age after birth who was found to have a high–level of CMV viremia (130,000 copies) at 33 weeks of age. Treatment with ganciclovir was initiated. The clinical course was complicated by necrotizing enterocolitis requiring surgery with stoma formation. At 36 weeks of age, the patient’s condition worsened, requiring reintubation and oxygen therapy. Repeated cardiology assessment revealed a patent ductus arteriosus and arrhythmia. Electrocardiography showed atrial tachycardia with intermittent wide QRS complex tachycardia up to 300 BPM. Treatment with amiodarone, furosemide, and spironolactone reduced tachycardia episodes, but atrial rhythm disturbances and occasional ventricular extrasystoles persisted. Elevated troponin I (84.7ng/L) and NT-proBNP (4866ng/L) pointed to possible complications of CMV myocarditis. The patient was extubated on the 5th day of continuing antiarrhythmic treatment. Conclusion This case highlights that significant CMV infection in neonates can cause cardiac complications later in the disease course. Clinicians should remain vigilant for myocarditis and arrhythmias even after the acute phase of infection.

Introduction Recurrent otitis in infancy is common, but persistence despite culture-guided therapy should prompt reconsideration of the diagnosis. Temporal bone Langerhans cell histiocytosis (LCH) is rare, may mimic mastoiditis or chronic suppurative otitis, and can present with complications such as facial nerve palsy, making recognition challenging. Case presentation A 7-month-old infant experienced three episodes of otitis between the months of July and August 2025, presenting with otalgia, otorrhea, and irritability. Ear discharge cultures repeatedly grew Staphylococcus aureus, and antibacterial therapy was adjusted according to susceptibility results, however, symptoms recurred. The patient was admitted to the department of pediatrics and started on intravenous piperacillin/tazobactam. Immunological evaluation showed decreased cytotoxic T lymphocytes and an increased CD4/CD8 ratio. Ten days later facial asymmetry developed, including drooping of the left oral commissure and incomplete closure of the left eye. Neurological examination confirmed left peripheral facial nerve palsy. Brain MRI showed bilateral mastoiditis, cervical lymphadenopathy, possible left occipital osteomyelitis, and nonspecific right infratemporal fossa/skull base changes suspicious for infiltrative disease. After these findings, multidisciplinary discussion prompted biopsy of the radiologically identified lesion together with bone marrow examination to differentiate between LCH and other oncologic processes. The next day, temporal bone CT revealed bilateral destructive lesions involving the skull base, calvarium, and facial bones. Bone marrow trephine biopsy later showed 14% Langerhans cells, while peripheral blood smear demonstrated features of anemia, mild thrombocytosis, and predominance of neutrophil lineage cells. Later the biopsy of an occipital bone lesion confirmed LCH and a positron emission tomography scan demonstrated metabolically active destructive bone lesions in the right sphenoid, left mandibular ramus, and left occipital bone, establishing multifocal osseous and multisystem LCH. Disease-specific treatment was initiated 10 weeks after the initial hospitalization. Conclusions This case illustrates how recurrent culture-positive otitis in an infant may conceal an underlying destructive multisite bone disease. Refractory otitis, cranial neuropathy, and atypical destructive imaging findings should prompt urgent reassessment and early tissue diagnosis, as timely recognition of LCH is essential for appropriate treatment. The majority of cases respond to surgery, targeted LCH

Introduction Toxic megacolon is a rare but potentially fatal complication of severe colitis characterized by acute non-obstructive colonic dilatation and systemic toxicity. Although most commonly associated with ulcerative colitis, toxic megacolon may occasionally represent the first manifestation of previously undiagnosed disease and is uncommon in children, accounting for 1-5% of patients with inflammatory bowel disease. We present a severe case of toxic megacolon revealing ulcerative colitis successfully managed without surgical intervention. Case presentation A 10-year-old patient was transferred to a tertiary care hospital due to persistent bloody stools, abdominal pain, and nausea. Gastrointestinal symptoms had been present intermittently for several months but no definitive diagnosis had been established. On admission the patient presented with abdominal distension and diffuse abdominal tenderness without signs of peritoneal irritation. Laboratory tests showed leukocytosis (17×109/l), elevated CRP (79 mg/l), anemia (hemoglobin 87 g/l), hypoalbuminemia, and hypokalemia. Abdominal radiography revealed marked colonic dilatation reaching approximately 10 cm. CT confirmed significant colon dilatation up to 6 cm without evidence of perforation. Clinical and radiological findings were consistent with toxic megacolon secondary to suspected inflammatory bowel disease. Conservative management was initiated including bowel rest, parenteral nutrition, intravenous fluids, electrolyte correction, broad-spectrum antibiotics, and high-dose intravenous methylprednisolone. Due to insufficient clinical response, intravenous cyclosporine therapy with therapeutic drug monitoring was introduced. Gradual clinical improvement followed with normalization of inflammatory markers and reduction of colonic dilatation on follow-up imaging. Subsequent rectoscopy with biopsy confirmed ulcerative colitis with low inflammatory activity. Biological therapy was initiated. Conclusions Toxic megacolon represents a severe complication of ulcerative colitis that frequently requires urgent surgical intervention. Early recognition, close clinical monitoring, and timely escalation of immunosuppressive therapy may allow successful conservative management even in severe presentations and help avoid emergency surgery.

Background Hypersensitivity pneumonitis (HP) is a rare immune-mediated pediatric interstitial lung disease, often misdiagnosed because of nonspecific clinical and radiologic features. We report a case initially mistaken for miliary tuberculosis. Case Report A 12-year-old girl presented with a 3-month history of progressive dyspnea, cough, low-grade fever, reduced exercise tolerance, and weight loss. She was hypoxemic (SpO 88%) with bilateral crepitations; laboratory tests showed elevated serum IgG and LDH, chest radiography demonstrated diffuse nodular infiltrates suggestive of miliary tuberculosis. Despite a negative tuberculin test, antituberculosis treatment was empirically initiated after bronchoscopy and respiratory tract sampling. After three weeks, the treatment was discontinued due to drug-induced liver injury and negative microbiology. Subsequent chest CT showed extensive bilateral ground-glass opacities and centrilobular nodules. Lung biopsy revealed interstitial infiltration with macrophages, lymphocytes, plasma cells, eosinophils, multinucleated giant cells, and small granulomas, confirming HP. Environmental history revealed exposure to household mold, parrots, and intensive incense burning, particularly in the patient’s bedroom. The patient received one month of systemic prednisolone and was advised to avoid all triggers. Her symptoms were resolved within months. The earlier signs of pulmonary restriction were no longer present, and radiological findings were normalized. Conclusions This case highlights the diagnostic complexity of pediatric hypersensitivity pneumonitis (HP) and emphasizes the importance of considering environmental lung disease once infection, asthma, and other pulmonary conditions have been excluded. A detailed and systematic exposure history is essential, as identification and elimination of household antigens resulted in sustained clinical and radiological improvement in our patient. The diagnosis can often be established based on typical symptoms, thorough clinical history, and timely high-resolution CT findings, making invasive procedures such as lung biopsy unnecessary in many cases. In the acute stage, prompt removal of the triggering antigen may be sufficient to achieve recovery

Vaikams Helicobaterpylori (H. pylori) infekcija dažniausiai yra besimptomė, retai sukelia peptinę opaligę, pasireiškiančią pilvo skausmu epigastriume. Vaikams, kuriems diagnozuota peptinė opa, dažnai nustatoma ir įspėjamųjų simptomų, kurie padeda atskirti nuo vaikų, kuriems simptomus sukelia funkciniai pilvo skausmai. Diagnostinio tyrimo indikacijos yra aiškiai apibrėžtos: neabejotinos - dokumentuota peptinė opaligė ar MALT limfoma, santykinės - folikulinis gastritas, gydymui atspari geležies stokos anemija arba pirmos eilės giminaitis, sergantis skrandžio vėžiu. Tyrimas ir gydymas nerekomenduojamas vaikams, besiskundžiantiems funkcinio pobūdžio pilvo skausmais be įspėjamųjų simptomų, esant naujai nustatytai anemijai ar prastam augimui. Pirminė diagnostika yra paremta endoskopine biopsija su patvirtinamuoju tyrimu. Serologiniai tyrimai vaikams nerekomenduojami. Neinvaziniai tyrimai naudojami eradikacijai įvertinti. H. pylori gydymo sėkmė priklauso nuo griežto 2 savaičių gydymo režimo laikymosi patvirtintomis medikamentinėmis schemomis. Vis dėlto, kai H. pylori infekcija nėra pagrindinė priežastis, gydymas simptomų nepalengvina.

Atopinis dermatitas (AD) - lėtinė odos liga, reikalaujanti ilgalaikės priežiūros. Dėl ilgalaikio kortikosteroidų vartojimo ribotumo ir nepageidaujamų reiškinių alternatyvūs gydymo būdai yra labai aktualūs. Vietiniai kalcineurino inhibitoriai (pimekrolimuzas, takrolimuzas) yra saugaus profilio ir veiksmingi, tinkami jautrioms odos vietoms, įskaitant veidą, gydyti. Pimekrolimuzas pasižymi geru vietiniu toleravimu, minimaliu sisteminiu ir steroidus tausojančiu poveikiu, todėl rekomenduojamas vaikams, sergantiems lengvo ir vidutinio sunkumo AD. Proaktyvus kalcineurino inhibitorių taikymas mažina AD paūmėjimų dažnį ir pagerina gyvenimo kokybę. Vietinės reakcijos (degimas, niežulys) dažniausiai yra lengvos ir laikinos. Derinami su emolientais ir individualiu gydymo planu, kalcineurino inhibitoriai yra saugaus profilio ir efektyvi ilgalaikė strategija valdant AD.

Objectives To investigate the frequency of cardiac follow-up after cancer treatment, and to quantify the long-term effects on the cardiovascular system. Methods Retrospective analysis of patients (aged 1mo to 16yrs at time of diagnosis) treated in the paediatric oncology department (from May 2017 to December 2025) was performed using an electronic database system. Demographic, treatment, and cardiac follow-up (including electrocardiogram (ECG) and transthoracic echocardiogram (TTE)) data was collected. Results 44 patients (24 male/20 female) with a mean age of 5.25yrs were included in the study. They were treated for 15 different cancer types, with the most common(N=7) being nephroblastoma. 6 patients with neurofibromatosis were not treated, and had no follow-up data. Out of the remaining sample size(N=38), majority(58%) received only chemotherapy, while the rest were split between only radiotherapy(13%) and a combination of both(24%). Two patients received treatment, but available documentation did not indicate what type. 36 patients(95%) had at least one cardiac follow-up visit, 26 patients(68%) had 2 or more visits, with an average of 14.1mo between visits (range 4-40mo). Observation period for the majority of cohort(79%) was less than 5yrs. All patients had at least one ECG and 94%(N=34) had at least one TTE done during follow-up. Ejection fraction stayed within normal parameters (median 70%, range 56-85%). One patient had abnormal ECG findings (premature ventricular contractions) that required treatment, only three patients had pathological valve regurgitation above the third degree (two patients with isolated tricuspid and two patients with both tricuspid and pulmonary valve regurgitation). Conclusions This data demonstrates that paediatric cancer survivors receive timely cardiac follow-up right after treatment at our center. We did not identify significant short term cardiovascular sequelae for majority of patients. Further studies and longer observation period are needed to demonstrate the efficiency of the current observation model and thoroughness of evaluation.