Kiudelienė, Rosita

Background. Postoperative speech impairment (POSI) and cranial nerve deficits (CND) are common complications of pediatric posterior fossa (PF) tumor surgery. Intraoperative MRI (ioMRI) has proven a useful tool in achieving gross total resection. The risk of POSI and CND with ioMRI remains unclear, making it the primary scope of this study. Additionally, we assessed whether POSI was associated with CND.

Introduction and Aim DICER1 syndrome is a rare, autosomal dominant tumor predisposition syndrome caused by germline mutations in the DICER1 gene. These mutations can lead to a wide range of benign and malignant tumors, most notably pleuropulmonary blastoma (PPB). Other associated tumors include lung cysts, multinodular goiter, adenoma, cystic nephroma, ovarian tumors, and thyroid neoplasms. Recognizing DICER1 syndrome's diverse presentations is crucial for early diagnosis and management. We report case of pathogenic heterozygous DICER1 gene variant for pediatric patient. Case Report Our 7-year-old patients has been diagnosed with acute lymphoblastic T-Cell lymphoma, affecting her upper mediastinum, right lung, pleura, diaphragm, right lower cervical lymph node, and right pararenal lymph node. CNS status– I. The patient received treatment according to the ALL-IC BFM-2009 protocol. Before the protocol M, a high level of homocysteine (14 μmol/l) was detected along with a homozygous mutation in methionine synthase reductase. After 24 years of taking methotrexate, the concentration level in the patient's blood serum was tested, and it reached 235.247 μmol/l (NR <150 μmol/l). After an additional 42 hours, the level dropped to 48.168 μmol/l (NR < 1.0 μmol/l). Due to the high level and potential side effects of this medication, the patient underwent a series of follow-up tests to diagnose and treat any possible adverse effects as quickly as possible. Additionally, at 42 hours, hyperkalemia and acute kidney injury stage 3 (according to AKIN criteria) were diagnosed . At 66 hours, the individual has developed grade 4 myelotoxicity according to the WHO scale, along with impaired protein synthesis function of the liver. Due to the patient's side effects, the patient required sessions of hemodiafiltration, replacement therapy with blood components, and correction of the antidote dose - calcium folinate. Discussion DICER1 syndrome is rare, with an estimated prevalence of about 1 in 10,600 individuals in the general population, though many carriers remain asymptomatic (Kim et al., 2019). The condition is characterized by incomplete penetrance and variable expressivity, often making diagnosis challenging without genetic testing. The tumor spectrum includes pleuropulmonary blastoma, cystic nephroma, multinodular goiter, and various rare pediatric tumors such as embryonal rhabdomyosarcoma (Schultz et al., 2020). In our case, the patient's diagnosis of embryonal rhabdomyosarcoma, multiple thyroidectomies, and early-onset nodular goiter all resemble symptoms linked to DICER1. Multinodular goiter is one of the most common developing features in DICER1 carriers, with up to 75% of female carriers over 20-year-old (Schultz et al., 2020). We conclude that found genotype is compatible with the patient’s phenotype. Conclusions and Recommendations This case reports the significance of early and accurate diagnosis of DICER1 syndrome and critical role of molecular testing in pediatric oncology to identify underlying genetic predispositions. This diagnosis is crucial for implementing tailored surveillance protocols and providing comprehensive genetic counseling, which are essential for optimizing patient outcomes and managing familial risk.

Introduction Hepatoblastoma is the most common type of liver cancer in children under 3 years. Although most hepatoblastomas are sporadic, they are strongly associated with genetic syndromes including familial adenomatous polyposis (FAP) [1]. Case Presentation A liver tumour was suspected in a 9-month-old female patient due to poor weight gain with her weight at the 3rd percentile (7430 g). A family history of familial adenomatous polyposis was noted. The patient was confirmed to have a mutation in the FAP gene that led to the development of hepatoblastoma. Ultrasound examination revealed an 8 cm localized nodular mass in the right lobe of the liver. Laboratory findings included mildly elevated liver enzymes (AST - 132 IU/I, GGT - 102 IU/I, LDH - 751 U/I), normocytic normochromic anaemia (Hb - 94 g/l), thrombocytosis (PLT - 836x10*9/l) and significantly elevated AFP levels (332 000 kU/I). MRI showed a large heterogenous mass occupying nearly the entire right liver lobe, measuring 12,4x8,2x8,5 cm. The mass compressed and slightly displaced the vena cava inferior to the left, compresses/overgrows the middle and right hepatic veins and the right portal vein branch. Percutaneous liver biopsy confirmed epithelial hepatoblastoma. No distal metastases were found. After evaluation of tumour spread on MRI, PRETEXT stage III was diagnosed and six courses of cisplatin chemotherapy were planned. After 4 courses of chemotherapy size of tumour shrinked to 6.1x4.7x9.1 cm and AFP to 6283.8 kU/I. Surgery was performed to remove the right lobe of the liver and gallbladder. After surgery, 2 more courses of chemotherapy were administered. After the treatment – AFP - 7,4 kU/I, condition of a patient was satisfactory, weight started to increase – at 1 year 9 months - 11,4 kg (25 ‰). Discussion The diagnosis of hepatoblastoma is based on clinical, histological, laboratory and radiology findings. The treatment of hepatoblastoma is complex: pre- and/or post-operative chemotherapy and surgery to remove the tumour [2]. Prognosis is related to AFP level, platelet count, PRETEXT stage, vascular invasion and distant metastases at the time of primary diagnosis [3]. Conclusions Congenital cancer syndromes are important factors of hepatoblastoma. Survival and complex treatment strategy depends on risk factors. With complex treatment, the 5-year survival rate is between 70% and 100% [4].

Posterior fossa tumour (PFT) surgery carries a risk of mutism or severely reduced speech. As for higher-cognitive language functions, word-finding difficulties have been reported, but no study has compared pre- and postoperative word-finding speeds to identify impairment caused by surgery. The current study investigated changes in word-finding ability associated with PFT surgery and examined factors affecting postoperative ability.

Hepatoblastoma (HB) yra retas auglys, dažniausiai pasi­reiškiantis pacientams iki 4 metų. Simptomai yra nespe­cifiniai – pykinimas, vėmimas, svorio netekimas. Dažnai galima apčiuopti darinį viršutiniame dešiniajame kepenų kvadrante. Diagnostikai svarbūs laboratoriniai ir vaizdo tyrimai. Gydymas susideda iš chirurginės intervencijos ir chemoterapijos cisplatina. Straipsnyje pristatomas klini­kinis atvejis 9 mėn. mergaitės, kuri kartu su mama atvyko dėl svorio nepriaugimo. Pacientė buvo konsultuota gydy­tojo radiologo, vaikų chirurgo, otolaringologo ir genetiko, kol instrumentiniais tyrimais ir biopsija buvo nustatyta hepatoblastoma. Pasitvirtinus genetinei predispozicijai bei neradus metastazių plaučiuose, buvo pradėta chemo­terapija ir taikytas chirurginis gydymas. Po operacijos, tęsiant chemoterapiją, buvo pasiekta remisija.

Vaikai ir jaunuoliai sudaro penktadalį Lietuvos populiacijos ir 100 procentų Lietuvos ateities. Jie - būsimoji mūsų šalies darbo jėga ir ateinančių kartų tėvai. Jų sveikata bus svarbus veiksnys, lemiantis šalies klestėjimą ir gyventojų ilgaamžiškumą. Šalys, kurios investuoja į vaikų sveikatą, gauna įspūdingą ekonominį atlygį, nes kiekvienas vaiko sveikatos labui išleistas euras per gyvenimą grįžta dešimteriopa nauda visuomenei. Lietuvoje vaikų sveikata tapo prioritetinė tik politiniuose dokumentuose. Realiame gyvenime valstybės rūpestį vaikų sveikata dažnai užgožia politinės intrigos ir asmeninės ambicijos, o labiausiai kvalifikuotas šios srities specialistas - vaikų ligų gydytojas, išstumiamas iš pirminės vaikų sveikatos priežiūros. Norėdami padėti visiems gydytojams, kurie savo praktikoje susiduria su vaikų sveikatos priežiūra, vedantieji Lietuvos vaikų ligų specialistai parengė trumpus dažniausių vaikų susirgimų ir būklių diagnostikos ir gydymo algoritmus. Tikimės, kad jie padės šeimos gydytojams, skubios pagalbos gydytojams ir pirminėje sveikatos priežiūros grandyje dirbantiems vaikų ligų gydytojams greičiau ir efektyviau įtarti, diagnozuoti ir pradėti gydyti įvairius vaikų susirgimus. Taip pat gydytojams bus lengviau nuspręsti, kur siųsti pacientą, įtariant sudėtingesnę patologiją; su kokiais specialistais ir kokiuose centruose konsultuotis dėl tolimesnio paciento ištyrimo bei ilgalaikio gydymo ir priežiūros. Šia knyga vaikų ligų gydytojai siekia prisidėti prie vaikų sveikatos priežiūros kokybės bei efektyvių paslaugų prieinamumo gerinimo mūsų šalyje ir padėti užtikrinti Vaikų teisių konvencijoje deklaruojamą vaiko teisę į geriausią įmanomą sveikatos priežiūrą.

Geležies stokos anemija (GSA) - lėtinė liga, kuri vystosi palaipsniui. Pradžioje mažėja geležies atsargos, atsiranda geležies stokos eritripoezė, galutinėje stadijoje išsivysto geležies stokos anemija, sutrinka audinių aprūpinimas deguonimi, ištinka audinių hipoksija. Pacientai dažnai būna prisitaikę prie lėtinės hipoksijos, todėl klinikiniai anemijos požymiai būna neišreikšti.

Introduction and Aim Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, characterized by the development of hundreds to thousands of adenomas in the colorectum. The syndrome is inherited as an autosomal dominant trait and caused by mutations in the adenomatous polyposis (APC) gene. Hepatobastoma is rare extracolonic manifestation of FAP, accounting <1% cases. We report two cases of hepatoblastoma and germline APC gene pathogenic variants for pediatric patients. [...].

Title of Case: A RARE HEMATOLOGICAL COMPLICATION OF EBV INFECTION Background: Increasing awareness and recognition of the HLH is leading to more frequent diagnoses, meaning there are forms of this syndrome that do not quite fit strictly into two categories, usually known as primary and secondary. Viral infections, especially EBV, should always be considered as they can trigger the manifestation of HLH in any subtype. Case Presentation Summary: A nine-year old boy was admitted to the hospital due to fever, vomiting, fatigue and headache. During examination cervical lymphadenopathy was observed and leukopenia, thrombocytopenia, abnormal liver function tests, hepatosplenomegaly, positive EBV IgG and negative IgM were found. These findings without confirmed infectious etiology raised a suspicion of HLH so further investigations were performed: hyperferritinemia, hyperlipidemia, hypofibrinogenemia and high EBV viral load (165,000 copies/ml) were revealed. With 5/9 criteria (fever, splenomegaly, cytopenia, hyperferritinemia, hyperlipidemia, hypofibrinogenemia) HLH was diagnosed and dexamethasone was administered. Within six days the fever resolved, blood counts, liver function returned to normal, EBV viral load reduced to 48,709 copies/ml. However, with reduced dexamethasone dosage symptoms relapsed and HLH-2004 protocol with the addition of etoposide and cyclosporine was initiated. Meanwhile increased levels of soluble IL-2 receptors and signs of secondary immunodeficiency (low numbers of T and B cells and low IgG) were found. Genetic tests for familial HLH were negative. After one month of treatment EBV viral load decreased to 214 copies/ml. In the absence of clear etiology of HLH, the initial treatment is continued. Learning Points/Discussion: The dichotomy between primary EBV-provoked (associated with immunodeficiency) HLH and secondary HLH is becoming increasingly vague. EBV viral load could be a useful tool for assessing treatment response in EBV-induced HLH even in the absence of an active EBV-associated disease (negative IgM).

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.