250 research outputs found
Olbrzymi naczyniak jamisty móżdżku u 4-miesięcznego niemowlęcia. Opis przypadku i przegląd piśmiennictwa
Cavernous malformations (CMs) are rare vascular lesions that affect 0.4–0.9% of the population. The diagnosis of CMs is simple in most typical cases although some lesions may present unusual imaging features: localization, signal intensity, or size. Extremely rare giant CMs can mimic neoplastic lesion because of their size. We report a case of giant cerebellar CM that is more than 6 cm in size, diagnosed in 4-month-old boy. We discuss magnetic resonance findings and histopathological features of this lesion.Naczyniaki jamiste to rzadkie zmiany naczyniowe, występujące u 0,4–0,9% populacji. Ich rozpoznanie w większości typowych przypadków jest łatwe, ale niektóre zmiany mogą stwarzać trudności diagnostyczne związane z nietypową lokalizacją, ich intensywnością sygnału lub wielkością. Niezwykle rzadkie gigantyczne naczyniaki jamiste mogą imitować zmiany nowotworowe. Autorzy przedstawiają 4-miesięczne niemowlę, u którego rozpoznano olbrzymi naczyniak jamisty zlokalizowany w móżdżku o wymiarze większym niż 6 cm. Omawiają cechy naczyniaka w badaniu za pomocą rezonansu magnetycznego oraz wynik badania histopatologicznego
Adalimumab for endoscopic and histopathological mucosal healing in paediatric patients with moderate to severe Crohn's disease
Abstract Introduction: Deep remission, defined as clinical remission with mucosal healing (MH), with anti-tumor necrosis factor (TNF)-α agents is a new target for therapy in Crohn's disease (CD). Provided that the efficacy of infliximab (IFX) for induction of MH in CD has been demonstrated, there are much less data for adalimumab (ADA), and none concerning MH on histopathological examination. Aim: To assess the impact of biological therapy with ADA on both endoscopic and histopathological MH in paediatric patients with CD. Material and methods: Twenty-three children (10 boys and 13 girls) aged 13.0 ±9.3 years with moderate to severely active CD diagnosed at the mean age of 5.5 ±0.83 years were included into the study. Seven (30.4%) patients had been previously treated with infliximab and switched to ADA due to intolerance or loss of response. Colonoscopy and gastroscopy with sample collection were performed in all patients before and after induction treatment with ADA. Clinical activity of the disease was assessed using the Paediatric Crohn's Disease Activity Index (PCDAI), and the endoscopic activity was scored using the Simple Endoscopic Score (SES-CD). Histological changes were evaluated by a self-adapted numerical scoring system. Results: Four (17.4%) patients reached clinical remission (PCDAI ≤ 10). When comparing data at baseline and at a week after ADA treatment, a significant decrease was observed in median PCDAI and in SES-CD score between the initial and control colonoscopies. We reported a decrease in histological scale, which was not statistically significant. A correlation was found between PCDAI and SES-CD score. Conclusions: Biological therapy with ADA has a positive impact on endoscopic mucosal healing in paediatric patients with CD, which is not associated with histological evidence of suppression of inflammation. Endoscopic MH correlates better than microscopic one with clinical remission
Long-term Survival in a Child with Malignant Insulinoma After Liver Transplantation
Insulinoma is one of the pancreatic neuroendocrine tumors (PanNET) and is exceptionally rare in children. The tumor leads to severe hypoglycemia caused by excessive insulin release. We report a pediatric patient with malignant insulinoma who underwent liver transplantation (LT) due to liver metastases of the insulinoma. A 13-year-old girl presented with symptoms of hypoglycemia due to hyperinsulinism. On computed tomography (CT), a polycystic lesion in the head of the pancreas and enlarged lymph nodes were revealed. A modified Whipple's operation was performed, and histological examination confirmed PanNET. CT also showed an enlarged liver with numerous metastases. Allogeneic LT was carried out successfully. Positron emission tomography-CT using 68Ga-DOTA-labeled somatostatin analogs (SSAs) at the age of 22 years confirmed complete metabolic remission. The patient currently remains under immunosuppressive and anti-proliferative treatment. Multiple surgical interventions, LT combined with SSAs, and immunosuppressive medication proved effective in this case of metastatic malignant insulinoma
Langerhans cell sarcoma with pulmonary manifestation, mediastinum involvement and bronchoesophageal fistula. A rare location and difficulties in histopathological diagnosis
Langerhans cell sarcoma, a neoplastic proliferation of Langerhans cells with malignant cytologic features, is a very rare disease.
Only a few cases have been documented in the English-language literature. Special methods, like immunohistochemistry
and/or ultrastructural examination, are indispensable for appropriate diagnosis. Correct diagnosis is difficult. In fact, the
disease is often misdiagnosed.
We present the case of a 47 year-old man with a large mass in the middle lobe of the lung, infiltrating anterior mediastinum,
with multiple pulmonary round lesions and enlargement of local lymph nodes, and with bronchoesophageal fistula. Clinical
examination indicated the possibility of advanced primary lung cancer.
However, the first histological diagnosis was Langerhans cell histiocytosis.
In spite of treatment, the progression of pulmonary lesions was observed. Therefore, upper- and middle-lobectomy was
performed. The diagnosis of Langerhans histiocytosis was confirmed microscopically again. Nevertheless, the patient’s
condition deteriorated progressively and he was admitted to the National Tuberculosis and Lung Diseases Research Institute
in order to establish a final diagnosis. Revision of earlier resected specimens, as well as an immunohistochemical and
ultrastructural examination of samples, taken once again from a bronchial tumor, led to the establishment of a diagnosis of
a unique form of Langerhans cell sarcoma with rare pulmonary manifestation.Mięsak z komórek Langerhansa jest niezwykle rzadkim złośliwym rozrostem nowotworowym. Dotychczas w piśmiennictwie
anglojęzycznym opisano nieco ponad dwadzieścia przypadków. Rozpoznanie jest bardzo trudne i wymaga zastosowania
diagnostyki immunohistochemicznej i/lub ultrastrukturalnej. Często choroba jest rozpoznawana jako inny proces nowotworowy, a nawet jako rozrost łagodny. W prezentowanej pracy przedstawiono przypadek 47-letniego mężczyzny, u którego
stwierdzono nieprawidłową guzowatą masę w okolicy płata środkowego płuca, naciekającą przednie śródpiersie, z rozsianymi,
okrągłymi zmianami w płucach, z powiększeniem okolicznych węzłów chłonnych oraz z przetoką oskrzelowo-przełykową.
Wyniki badań klinicznych wskazywały na możliwość zaawansowanego raka płuca. W badaniu mikroskopowym wycinków
pobranych z drzewa oskrzelowego rozpoznano histiocytozę z komórek Langerhansa. Pomimo wdrożonego leczenia obserwowano
progresję choroby. W związku z tym zdecydowano się na operację wycięcia płata górnego i środkowego płuca.
Ponownie rozpoznano histiocytozę z komórek Langerhansa. Ze względu na dalszy postęp choroby pacjent został przekazany
do Instytutu Gruźlicy i Chorób Płuc. Ocena wcześniejszych preparatów histologicznych wycinków pochodzących z oskrzela,
z materiału operacyjnego oraz powtórnie pobranych z oskrzela głównego prawego, poszerzona o szeroki panel przeciwciał
immunohistochemicznych i badanie ultrastrukturalne pozwoliła ustalić rozpoznanie rzadkiej postaci mięsakowatej histiocytozy
z komórek Langerhansa
Is there a common cause for paediatric Cushing’s disease?
Introduction: According to recent literature, somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are the most common changes in patients with Cushing’s disease (CD). Data on the frequency of these mutations in the paediatric population are limited. The aim of the presented study was to determine the frequency of the USP8 gene mutations in a group of paediatric patients with CD treated at the Children’s Memorial Health Institute (CMHI).
Material and methods: Eighteen patients (nine females) with CD were treated at CMHI, Warsaw, Poland between 1993 and 2019. All patients underwent transsphenoidal surgery (TSS) as a primary treatment for CD. The average age of all patients at TSS was 13.10 years (5.42–17.25). DNA was extracted from formalin-fixed paraffin-embedded resected tumour tissue. Sanger sequencing was performed on DNA sequence corresponding to the exon 14 of USP8 gene.
Results: The mean age at diagnosis of CD was 13.08 years, and the average duration of symptoms before diagnosis was 2.96 years. All patients were operated at CMHI by the same neurosurgeon. Fifteen out of 18 patients (83.33%) had initial biochemical remission after a single TSS procedure (post-operative serum cortisol < 1.8 μg/dL). The result of genetic testing was negative for all samples at the hotspot area of the USP8 gene.
Conclusion: The current retrospective study demonstrates that mutations in the USP8 gene may not be as common a cause of paediatric Cushing’s disease, as previously reported
Giant Intrapericardial Myxoma Adjacent to the Left Main Coronary Artery
A 62-years-old woman was admitted to the hospital because of chronic cough, expectoration of thick mucus, hoarseness and tightness in the precordial area. Computed Tomography (CT) examination revealed the presence of a giant intrapericardial tumor with the dimensions of 80 × 38 × 32 mm. It was located anteriorly and laterally to the left atrium, posteriorly to the pulmonary trunk and the ascending aorta. This hypodense change modeled the left atrium without evidence of invasion. CT coronary angiography and 3-dimensional reconstruction were applied to enable precise planning of cardiac surgery. CT evaluation confirmed that it is possible to remove the tumor without damage to the adjacent left main coronary artery. The patient underwent cardiac surgery with sternotomy and cardiopulmonary bypass. A cohesive, smooth, vascularized tumor pedunculated to the left atrial epicardium was visualized. The location and dimensions corresponded to those determined by CT scan examination. The entire tumor was successfully dissected together with adjacent adipose and fibrous tissue. Histological evaluation revealed the presence of myxoid cells, blood vessels, degenerative changes, and microcalcifications embedded in profuse hyalinized stroma. Those histological features enabled identification of the intrapericardial tumor as a myxoma. Follow-up CT examination did not demonstrate any signs of recurrence of the myxoma. According to our knowledge, a myxoma located inside the pericardial sac has never been described before
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