Doğuştan kitlelerin tespiti için prenatal ultrasonografinin faydası

Amaç: Konjenital kitleler artmış perinatal komplikasyon ve ölüm riski ile ilişkilidir. Bu nedenle doğum öncesi görüntüleme çalışmaları, optimum doğum sonrası müdahaleleri belirlemek için esastır. Biz bu yazıda; konjenital kitlelerin belirlenmesinde prenatal ultrasonografinin yararlılığını değerlendirdik. Yöntem : Kitlesi olan 19 yenidoğan bebek bu retrospektif çalışmaya alındı. Ultrasonografik tanı, tanı anındaki gebelik yaşı, hayatta kalma ve hastalığın histolojik doğrulama verileri incelendi. Bulgular: Kitlesi olan bu 19 yenidoğan bebeğin (8 erkek ve 11 kız), 13ünde (%68) tanı prenatal dönemde konuldu. Kitleler abdominal (n: 12), göğüs (n: 6) ve kranial (n: 1) yerleşimli idi. Abdominal ve torakal kitlelerin prenatal tanı oranları sırasıyla, 10/12 (%83), 3/6 (%50) idi. Intrakranial kitle ise prenatal dönemde tespit edilemedi. Pre natal saptanan kitlelerin kesin tanıları, 4 hastada; teratom, 2 hastada; over kistadenomu, 2 hastada; Wilms tümörü, 1 hastada; nöroblastom ve 1 hastada da; rabdomiyom idi. Kalan 3 hastada ise çeşitli (mezenter kisti, gastroenterik kist, lenfanjioma) kitlel er vardı. Sonuç : Bizim veriler abdominal ve kistik kitlelerin prenatal dönemde ultrasonografik inceleme ile daha kolay tespit edildiğini göstermektedir.Objective : Congenital masses are associated with an increased risk for perinatal complications and death; therefore prenatal imagining studies are fundamental to determine the optimal postnatal interventions. Herein we evaluate the usefulness of the prenatal ultrasonography in determination of congenital masses. Method : Nineteen newborn babies with mass were enrolled in this retrospective study. Data of the ultrasonographic diagnosis, gestational age at diagnosis, survival, and histological confirmation of the disease were reviewed. Results : Of the 19 newborn babies (8 male and 11 female) with mass, 13 p atients were diagnosed prenatally (68%). The location of the masses were abdominal (n: 12), thoracic (n: 6) and cranial (n: 1). The ratio of prenatal diagnosis of abdominal, and thoracic mass was established as 10/12 (83%), 3/6 (50%), respectively. The intracranial mass could not be detected in the prenatal period. Definitive diagnosis of the prenatally detected masses were teratoma in 4 patients, ovary cystadenoma in 2 patients, Wilms tumor in 2 patients, neuroblastoma in 1 patient, and rhabdomyoma in 1 pa tient. The remaining 3 patients had variety of masses (mesenteric cyst, gastroenteric cyst, lymphangioma). Conclusion : Our data shows that abdominal and cystic masses are more easily detected during prenatal periods by ultrasonographic examination

Atypical presentation of chronic granulomatous disease in an adolescent boy with frontal lobe located Aspergillus abscess mimicking intracranial tumor

Chronic granulomatous disease (CGD) is an uncommon congenital phagocyte disorder characterized by recurrent life-threatening infections. CGD generally present with recurrent suppurative infections, however, intracranial fungal abscess complicating CGD may cause a diagnostic problem to anyone unfamiliar with its clinical and radiological features.BACKGROUND: Chronic granulomatous disease (CGD) is an uncommon congenital phagocyte disorder characterized by recurrent life-threatening infections. CGD generally present with recurrent suppurative infections, however, intracranial fungal abscess complicating CGD may cause a diagnostic problem to anyone unfamiliar with its clinical and radiological features.HISTORY: We report the case of a 16-year-old boy who was consulted with a differential diagnosis of an intracranial tumor. The clues of his medical history and physical examination made us consider the diagnosis of CGD. Cytometric dihydrorhodamine assay and genotyping confirmed an autosomal recessive CGD. He was successfully treated without any complication or sequel for 18 months follow-up period with surgery and interferon-gamma, in addition with, liposomal amphotericin B and voriconazole that were found to be sensitive to the Aspergillus fumigates, which had been grown from the culture of the abscess cavity.DISCUSSION: We discuss the pathogenesis, radiological techniques, and management of cerebral Aspergillus abscess in a patient with CGD.CONCLUSION: Presentation of CGD with a cerebral Aspergillus abscess, mimicking a brain tumor is extremely rare in children; clinicians and neurosurgeons must be aware. The best management modality for cerebral Aspergillus abscess is to be vigilant about the disease, whereas adjuvant surgical and medical therapy with a close follow-up must be warranted for all case

Hashimoto thyroiditis associated with ataxia telangiectasia

Ataxia telangiectasia is a rare genetic disease characterized by neurological manifestations, infections, and cancers. In addition to these cardinal features, different autoimmune diseases can be seen in patients with ataxia telangiectasia. Although there were reports of positive autoimmune thyroid antibodies associated with ataxia telangiectasia, to our knowledge, we report the first cases of nodular Hashimoto thyroiditis in two patients with ataxia telangiectasia in the English medical literature. These cases illustrate that despite the rarity of nodular Hashimoto thyroiditis associated with ataxia telangiectasia, physicians should be aware of this possibility. Furthermore, thyroid examination of patient with ataxia telangiectasia is recommended for early diagnosis

Rectal Cancer with Synchronous External Iliac Lymph Node Metastasis Invading the External Iliac Artery and Its Surgical Management: A Case Report

Isolated external iliac lymph node recurrence is rare in rectal carcinoma. Herein we present a 78-year-old male with synchronous external iliac lymp node metastasis invading the external iliac artery and its successul surgical resection

Multiple Fungal Brain Abscesses in a Child with Acute Lymphoblastic Leukemia

Fungal infection is a severe problem in children suffering from cancer. We report a case of a four-year-old girl who was diagnosed with acute lymphoblastic leukemia and multiple Aspergillus niger abscesses at the induction phase of the treatment. She was treated with granulocyte transfusions, liposomal amphotericin B with a combination of voriconazole for four months, followed by oral variconazole alone for 17 months. She was successfully treated with this combination without any sequel, and the planned chemotherapy was also completed. Our experience revealed that antifungal treatment including intravenous amphotericin B and variconazole augmented by granulocyte transfusion is an alternative option for the management of this catastrophic complication.Fungal infection is a severe problem in children suffering from cancer. We report a case of a four-year-old girl who was diagnosed with acute lymphoblastic leukemia and multiple Aspergillus niger abscesses at the induction phase of the treatment. She was treated with granulocyte transfusions, liposomal amphotericin B with a combination of voriconazole for four months, followed by oral variconazole alone for 17 months. She was successfully treated with this combination without any sequel, and the planned chemotherapy was also completed. Our experience revealed that antifungal treatment including intravenous amphotericin B and variconazole augmented by granulocyte transfusion is an alternative option for the management of this catastrophic complication.PMID:22777270[PubMed

Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in various organ systems. We would like share our experience from 86 patients and the results of rapamycin treatment in seven children with TSC