Venckutė, Greta

Introduction. Gorlin syndrome is a hereditary cancer predisposition disorder caused by ger- mline mutations in the Sonic hedgehog (SHH) pathway, most commonly involving SUFU and PTCH1. SUFU mutations confer high risk of early-onset SHH-activated medulloblastoma. Ra- diotherapy is often avoided due to secondary malignancy risk, and characteristic intracranial calcifications may complicate imaging and mimic metastases or relapse. Methods. We report a pediatric case of classic SHH-activated medulloblastoma associated with a germline SUFU mutation. Results. A 16-month-old boy presented with vomiting, ataxia and abducens nerve palsy. Brain MRI revealed a fourth-ventricle tumor causing obstructive hydrocephalus with cerebellar lep- tomeningeal dissemination and bilateral calcifications, some demonstrating contrast enhance- ment; no spinal dissemination was detected. Near-total resection was performed. Histopathology confirmed classic medulloblastoma, SHH-activated, TP53 wildtype. Genetic testing identified a SUFU mutation. The patient received three induction and two maintenance chemotherapy courses. Treatment was complicated by myelosuppression and febrile neutropenia requiring an- timicrobial therapy and transfusions. Subsequently, focal seizures and unilateral weakness de- veloped. MRI showed progressive white matter changes consistent with posterior reversible en- cephalopathy syndrome (PRES) and calcified lesions. EEG was normal, carbamazepine was initi- ated. Given lesion distribution, temporal evolution, and the underlying SUFU mutation, imaging findings were interpreted as mutation-associated and treatment-related rather than relapse. The patient remains under surveillance without recurrence; his condition has improved. Conclusions. In SUFU-associated Gorlin syndrome, intracranial calcifications and PRES may mimic medulloblastoma relapse. Accurate interpretation requires integration of genetic back- ground, clinical course, and multidisciplinary imaging review to avoid overtreatment.

Background and Aims: off-label medication are prevalent in pediatrics and represents patient safety concern associated with elevated risk of adverse drug effects. We aimed to identify fac-tors linked to off-label drug use in our pediatric emergency department (PED). Methods: Retrospective data analysis was performed. All patients diagnosed with otitis or respiratory tract infections (RTIs)aged 0-18yrs who attended our PED September 1 st - October1st ;2022 were included. Data collected: gender, age, triage cathegory, chronic diseases, vital signs, PED-prescribed treatment(medications, dosages, administration methods). Statistical analysis was performed using SPSS 28.0, p < 0.05 was considered significant. Results: We analysed 473 patient records; median age- 3.595yrs(IQR1.97-5.77); 42.7%-female. Majority were triaged as 4 (not urgent)–85.6%. 17.1% had chronic diseases. 387 medications were prescribed, 47.5% were off-label. Mostly, off-label treatment was administered for unspecified external otitis (tobramycin & dexamethasone eye drops, n = 16 (100%)), acute laryngitis (adrenalin inhalations, dexamethasone orally), unspecified acute bronchitis (dexamethasone orally, salbutamol) (p < 0.001). 34.8% of salbutamol inhalations were misused by age (n = 16). Children received some medication orally vs injections (on dansetronn = 5, 62.5%; dexamethasone n = 82, 98.7%), intranasally vs IV(midazolam n = 7, 87.5%). IV adrenalin was always prescribed for inhalations (n = 46). There was no correlation between off-label prescription and gender, triage group, chronic diseases. We noted that younger children (3.4yrs (IQR1.9- 4.9) were more likely to receive off-label treatment (ORE - 0.17, CI95% (- 0.257-- 0.084);p < 0.001).Conclusions: We observed that leading cause of off-label use was inappropriate medication administration forms. External otitis, laryngitis, acute bronchitis were with highest prevalence of drug misuse. Younger children were more likely to receive off-label treatment in PED. Conclusions We observed that leading cause of off-label use was inappropriate medication administration forms. External otitis, laryngitis, acute bronchitis were with highest prevalence of drug misuse. Younger children were more likely to receive off-label treatment in PED.

Off-label drug use is prevalent in the pediatric population and represents a patient safety concern. We aimed to identify factors for off-label drug use in our pediatric emergency department (PED). Methods. We performed a retrospective data analysis. All patients aged 0–18 referred to PED from 1 September to 1 October 2022, were included. Further analysis was performed when respiratory tract infections were diagnosed. Data collected: gender, age, triage group, chronic diseases, vital signs, and PED-prescribed treatment (medications, dosages, methods of administration). Statistical analysis used SPSS 28.0, with significance at p < 0.05. Results. Data from 473 patients were analyzed, median age 3.5 years. Chronic diseases were present in 17.1% of children. 387 medications were prescribed, 47.5% being off-label. Off-label treatment was common for external otitis, acute laryngitis, and acute bronchitis (p < 0.001). There was incorrect administration of tobramycin with dexamethasone for otitis (n = 16, 100%) and inappropriate use of salbutamol inhalations by age (34.8%, n = 16). Some medications were given orally instead of injections (ondansetron n = 5, 62.5%; dexamethasone n = 82, 98.7%) or intranasally instead of intravenously (IV) (midazolam n = 7, 87.5%). IV adrenalin was prescribed for inhalations (n = 46). Younger children were more likely to receive off-label treatment (p < 0.001). Conclusion. Our study highlights the widespread issue of off-label and unlicensed drug prescribing in pediatric emergency care. Further research is necessary, because this reliance on off-label prescribing raises concerns about patient safety and compliance, especially given the limited clinical trials and therapeutic options available.

Background and Amis Cerebral fat embolism is a rare clinical condition that typically occurs in patients with bone fractures.

Methods We report a case of 17-year-old boy, who suffered a car accident being a motorcycle driver.

Results A 17-year-old boy presents to the emergency department after a car accident he is fully conscious on arrival, complaining of pain in his chest, left leg, sacrum, and difficulty breathing. Radiological examinations revealed fractures of ribs, transverse processes of the L1, L3,L4 vertebrae, left femor, bilateral pneumothorax, pulmonary contusion. CT scan of the brain showed no trauma lesions. Due to respiratory impairment, the left pleural cavity was drained, and artificial lung ventilation was started. After stabilisation, the patient was transferred to a paediatric trauma center. Sedation and anaesthesia were applied during the transport and a splint was applied to the left leg.

Left femoral traction was applied at the trauma center. After discontinuation of sedation, the patient was unresponsive to the environment, with only a cough reflex. A CT scan of the brain a day later showed cerebral oedema. Bilateral decompressive craniectomy was performed. At the same time, a small petechial rash was observed in the axillae. Brain MRI showed mainly lesions due to fat embolization. Despite treatment, the patient's condition deteriorated, brain death was determined.

Conclusions In the presence of long bone fractures, in the absence of traumatic lesions in the brain, cerebral fat embolism cannot be ruled out in a patient with impaired consciousness. MRI is the only test that can diagnose this pathology.

Gastric teratomas are rare and typically occur in infant boys. A 4-month-old boy was admitted to the hospital for sluggishness, feeding difficulties and rhinorrhea. After a blood test, he was diagnosed with severe normocytic normochromic anaemia (Hb 63 g/l) with increased reticulocytes (9,98 %). Additional tests for causes of anaemia were performed: ferritin, vitamin B12, folic acid, bilirubins, LDH, and haptoglobin levels were normal. During physical evaluation, a palpable mass under the rib cage was detected. On abdominal ultrasound, a 9 x 6 cm (sized) polymorphic formation was observed in the upper part of the left lateral canal of the peritoneal cavity, most likely a gastric teratoma. Tumour markers were performed - Ca19-9 126,5 kU/l; CEA 2,5 mcg/l; AFP 120,1 kU/l; bHCG: 0,5 U/l. Abdominal computed tomography (CT) showed a 7,9 cm x 5,4 cm heterogeneous mass visible in the stomach wall, with a fatty component and some intratumoral polymorphous calcinates - gastric teratoma. Due to severe anaemia, a blood transfusion was given and the patient was prepared for the surgery. The tumour growing beyond the gastric fundus, both exo- and endophytically, was removed during laparotomy. Also, gastric fundus resection with anterior fundoplication was performed. Histologically, the tumour was identified as a mature cystic teratoma of the stomach. The resection margins were free of tumour. After 3 months follow-up: Ca19-9 13 kU/l, AFP 18,3 kU/l, Hb 117 g/l, abdominal ultrasound and CT - no recurrence or metastasis. These embryonic neoplasms typically present with a palpable abdominal mass; they are benign and associated with a good prognosis.

Hemophagocytic lymphohistiocytosis (HLH) is an inflammatory hyperactivity disorder that can potentially endanger one’s life. We revised all HLH cases diagnosed at Kaunas Clinics paediatric onco-haematology centre in 2010-2023 based on HLH-2004 criteria, analysed clinical manifestations, laboratory tests, aetiology, and outcomes. We found 12 cases, (3 boys and 9 girls) with a median age of 9,08 years. All the patients had fever, splenomegaly was diagnosed in 8 (66,7%). Laboratory findings included anaemia (61,5%), neutropenia (91,6 %), thrombocytopenia (75%), hypertriglyceridemia (45.5 %), hypofibrinogenemia (63,6 %). Hemophagocytosis was discovered in 7 (58.3%): bone marrow (41,6 %), liver (33,3%), skin (8.3%), three patients had hemophagocytosis in more than one site. Serum ferritin concentration varied from 102 to 20000 μg/L; with ≥500 μg/L occurring in 8 (66.7 %) cases. Soluble CD25 and natural killer activity were performed in 7 and 4 patients respectively, and all of them were abnormal. Other manifestations that were not included in HLH criteria were hepatitis in 8, rash and/or arthralgia in 4 and neurological damage in 2 cases. Primary HLH was diagnosed in 2 cases, while secondary HLH occurred in the setting of macrophage activation syndrome (4), Langerhans cell histiocytosis (1), Ebstein-Barr viral infection (1), unknown (4). Altogether, 5 deaths were registered, the last one in 2015. We conclude that the diagnosis of HLH is always problematic because of the diversity of presentation and variability of laboratory tests. Tests such as NK-cell activity, and soluble CD25 levels are not always possible to perform and receive in time for diagnosis confirmation. Hepatitis and neurological damage, although not included in the criteria, can help to suspect this syndrome and start treatment in time. Acknowledgment of HLH is essential for diagnosis and immediate treatment leading to improved prognosis.

Backgrounds: Children who have contracted COVID are at risk of experiencing a variety of long-lasting symptoms collectively known as prolonged COVID syndrome. According to world data, about 30% of children infected with SARS-CoV-2 will experience certain symptoms. In this study, we aimed to create a continuous follow-up program for children after COVID infection. Moreover, our aim was to improve longterm periodic communication with the patient's parents to discuss her/his condition and timely recognize the signs of prolonged COVID. In addition, provide individualized assistance, monitoring of the patient and symptoms, assessment of the persistence of symptoms, and provide specific treatment. Methods: Continuous follow-up program in the frame of a prospective observational study was created and is conducted in our hospital. The program started in March 2022. Criteria for the inclusion: 1 month up to 18 years of age, diagnosed with COVID-19, or have been diagnosed with MIS-C syndrome according to the clinical criteria. After the inclusion, in a period of one year, 5 medical assessments of the state of health are planned to be carried out. In case of specific symptoms, a patient is referred to a specialist. Results: Currently, ~40 children with their caregivers are included into the program. The median age for inclusion – 9y, 42%-female. Nine children required additional consultation with a pediatric neurologist with the most frequent complaint of headaches. 4 children have ongoing consultations with a psychiatrist and continuous visits are planned. Six children were referred to a pediatric rheumatologist complaining of prolonged joint aches and the assessment regarding autoimmune diseases is ongoing. Conclusions/Learning Points: Our further plans are to collect more data and analyze the symptoms and signs according to age and gender.

Background and aim. Since COVID pandemics, ~50% of children can have asymptomatic infection. However, they tend to have post-covid symptoms. Due to unexplained symptom origin (without confirmed COVID), they are referred to different paediatric specialists. Aims:to analyse SARS-CoV-2 antibody levels in children referred to our University Hospital ambulatory care with unexplained symptoms, to clarify percentage of asymptomatic covid cases and related post-covid symptoms. Methods:prospective study was conducted including children up to age of 18y without previous SARS-CoV-2 infection, were not breastfed during the last months, nor vaccinated against SARS-CoV-2. Parents were asked to fill-in the questionnaire about symptoms within one year before referral. Results:in total, 124 children were included into the study, 47.5% were female. Median age was 8.6y. 63.7% had different chronic diseases, e.g., asthma or arthritis and 56.4% were allergic. 41% noted that they have had symptoms of acute infection within one year, 24% had family member who tested positive for SARS-COV-2. 24.2% of children had antibodies against SARS-CoV-2 (Ab+). No correlation between positive test of family member and Ab+ child was found. No significant difference was observed between Ab+ versus Ab- within age groups, with or without chronic diseases. There were 57 children with unexplained symptoms and 26% of those children had Ab+. Most of those symptoms were respiratory (dyspnoea, cough), followed by neurological symptoms (insomnia, tiredness). Conclusions:we did find 24% of the Ab+ children who were defined as never ill with COVID. Majority of unexplained symptoms within the Ab+ group were respiratory and/or neurological.

Nepaisant to, kad ūminio respiracinio distreso sindromas (ŪRDS) yra identifikuotas jau prieš daugiau nei 40 metų, jis išlieka viena labiausiai neišaiškintų patologijų, su minimaliom pagalbos galimybėm. Mirštamumas nuo šio klastingo sindromo siekia iki 40 proc. Dėl savo painios ir sudėtingos patogenezės ir agresyvios eigos, gydymo galimybės išlieka labai ribotos. Dabar gyvename tokiu metu, kada kalbėti apie šį sindromą yra itin svarbu, visgi nauja koronaviruso atmaina nepraleidžia progos didinti ŪRDS atvejų skaičių. Norint užkirsti kelią jo progresavimui, kiekvienos srities klinicistas privalo mokėti laiku identifikuoti respiracinio distreso požymius, išmanyti egzistuojančių metodų specifikas ir jas taikyti pagal rekomendacijas arba jei to neleidžia aplinkybės bent jau neatidėliojant nusiųsti pacientą teisingam specialistui. Tą galima pasiekti tik pilnai išmanant šio sindromo kilmę, patogenezę, patofiziologiją, diagnostikos principus ir gydymo metodus bei jų taikymo principus. Taip pat yra be galo svarbu ieškoti naujų tiek nemedikamentinių, tiek medikamentinių priemonių, galinčių efektyviai gydyti ar užkirsti kelią šio sindromo išsivystymui. Dabar yra intensyviai tyrinėjamos įvairios farmakologinės priemonės ŪRDS gydymui. Dauguma jų rodo geras perspektyvas. Tikėtina, kad netolimoje ateityje turėsime daugiau pagalbos galimybių pacientams su šia patologija.

Ūminis pilvas yra dažna ir gyvybei pavojinga, skubios pagalbos skyriuje sutinkama patologija, kuri privalo būti kuo greičiau atpažinta ir nedelsiant pradedama gydyti. Ūmaus pilvo patogenezė gali būti labai įvairi, nuo funkcinės iki organinės kilmės. Vaistų sukeltas pankreatitas viena iš retesnių priežasčių, dėl ko gali išsivystyti ūmaus pilvo būklė, apie kurią yra ne daug kalbama ir dažnai užmirštama. Dauguma vaistų sukeltų ūminio pankreatito atvejų yra lengvo ar vidutinio sunkumo, bet sunkūs ar net mirtini gali nusinešti pacientų gyvybes. Vaistų sukelto pankreatito gydyme svarbiausias aspektas yra jį sukėlusio vaisto nutraukimas, dėl ko labai svarbu išsiaiškinti pacientų vartojamus receptinius ir nereceptinius medikamentus ir suprasti, kurie iš jų gali lemti kasos pažeidimą. Ypatingai svarbu pagalvoti apie tai skyriuje gydant vyresnio amžiaus pacientus, kurių gydyme stebima polifarmacija. Laiku atpažinus patologiją ir suteikus tinkamą pagalbą stebimos geros išeitys, tačiau netinkamos diagnostikos atvejai gali privesti ir prie mirties ar labai sunkių komplikacijų. Šioje literatūros analizėje pateikiamos vaistų sukelto pankreatito išsivystymo teorijos, klinikos, diagnostikos ir gydymo principai.