Vena cava superior syndrome in the children with mediastinal tumors: Single-center experience.

OBJECTIVE: Vena cava superior syndrome comprises various symptoms of compression of vena cava superior. The results of increased venous pressure in the upper body may cause edema of the head and neck associated with cyanosis, plethora and distended subcutaneous vessels. Vena cava superior syndrome is rare in childhood. Therefore, we planned this retrospective study. METHODS: The retrospective study was carried out on the children with mediastinal tumors in the Department of Pediatric Hematology-oncology, Erciyes University Faculty of Medicine, Kayseri, Turkey , from January 2010 to December 2017. Diagnostic procedures included hematological investigations, chestradiography, thoracic computed tomography, echocardiography and lymph node or mediastinal biopsy. RESULTS: In this study, 19 (five were female) of 41 patients with mediastinal tumors had Vena cava superior syndrome. Diagnosis included Hodgkin's lymphoma in seven (37%), non-Hodgkin's lymphoma in six (32%), acute T- lymphoblastic leukemia in four (21%), neuroblastoma and anaplastic round cell sarcoma in one each respectively. All of the 19 patients' facial swelling, venous distention and mediastinal widening. All patients received intravenous corticosteroids (0.6 mg/kg dexamethasone). Furthermore, the patient with anaplastic round cell sarcoma received emergency radiotherapy. No patients died because of Vena cava superior syndrome. CONCLUSION: Vena cava superior syndrome is a medical emergency that requiresurgent treatment. Vena cava superior syndrome studies in children are rare. In this retrospective study, we found that the most common cause of Vena cava superior syndrome was Hodgkin's lymphoma different from literature.

Twenty children with non-Wilms renal tumors from a reference center in Central Anatolia, Turkey

Background/aim: Non-Wilms renal tumors (NWRTs) are rarely encountered in children. The aim of this study is to determine the treatment strategies, prognosis, outcomes, and survival of children with NWRTs at Erciyes University in Kayseri, Turkey. Materials and methods: Medical records of all patients (n = 20) treated for NWRTs over a 23-year period (1995­2018) were reviewed retrospectively. Results: There was male predominance (female/male: 7/13); the median age at diagnosis was 3.2 years old (0.1­13.5 years old). The major histological groups included mesoblastic nephroma (MBN), (n: 5, 25%), malignant rhabdoid tumor (MRT), (n: 5, 25%), renal cell carcinoma, (n: 3, 15%), inflammatory myofibroblastic tumor (n: 2, 10%), multilocular cystic renal tumors (n: 2, 10%), metanephric adenoma (n: 1, 5%), renal neuroblastoma (n: 1, 5%), and bilateral renal Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) (n: 1, 5%). All of the patients with NWRTs had radical nephrectomy except the child with bilateral renal ES/PNET. Six children died because of progressive disease; the mortality rate was 30% (n: 6). Conclusion: We have made the first report of bilateral renal involvement of ES/PNET in the English medical literature. Physicians dealing with pediatric renal masses should be alert to the high mortality rate in children with MRT, MBN, and ES/PNET and they should design substantial management plans for NWRTs.

The use of rapamycin in patients with tuberous sclerosis complex: Long-term results.

PURPOSE: The purpose of this study was to evaluate the long-term results of eight cases diagnosed with tuberous sclerosis complex (TSC) and receiving rapamycin therapy because of epileptic seizures and/or accompanying TSC findings. METHOD: Rapamycin therapy was initiated at a dose of 1.5 mg/m2. Seizure frequency, electroencephalographic (EEG) findings, renal and cranial imaging findings, and cutaneous lesions over 3- to 6-month periods during follow-up and treatment were evaluated. RESULTS: Four girls and four boys aged 4-16 years at the start of rapamycin therapy and now aged 9-24 years were evaluated. Duration of rapamycin therapy was 1-5 years, and the monitoring period after commencement of rapamycin therapy lasted 5-8 years. Positive effects were observed at 9-12 months in three out of six cases of renal angiomyolipoma (AML) and in the second year of treatment in one. An increase in AML dimensions was observed in three cases after treatment was stopped. Seizure control was established in the first year of rapamycin therapy in all cases. An increased frequency of seizures was observed in three cases after the second year of treatment. No seizure recurrence was determined in the second year of treatment with rapamycin in five out of eight cases. Recurrence of seizure was observed in 6-12 months after the discontinuation of rapamycin in three cases. CONCLUSION: Rapamycin therapy exhibits positive effects on epileptic seizures in cases of TSC in 1-2 years but these positive effects on seizure control of rapamycin therapy decline after the second year. Larger case series are still needed to determine the duration and effectiveness of treatment in childhood.

Magnetic resonance enterography in pediatric celiac disease / A enterografia por ressonância magnética na doença celíaca pediátrica

Abstract Objective: To assess if magnetic resonance enterography is capable of showing evidence/extent of disease in pediatric patients with biopsy-proven celiac disease by comparing with a control group, and to correlate the magnetic resonance enterography findings with anti-endomysial antibody level, which is an indicator of gluten-free dietary compliance. Methods: Thirty-one pediatric patients (mean age 11.7 ± 3.1 years) with biopsy-proven celiac disease and 40 pediatric patients as a control group were recruited in the study. The magnetic resonance enterography images of both patients with celiac disease and those of the control group were evaluated by two pediatric radiologists in a blinded manner for the mucosal pattern, presence of wall thickening, luminal distention of the small bowel, and extra-intestinal findings. Patient charts were reviewed to note clinical features and laboratory findings. The histopathologic review of the duodenal biopsies was re-conducted. Results: The mean duration of the disease was 5.6 ± 1.8 years (range: 3-7.2 years). In 24 (77%) of the patients, anti-endomysial antibody levels were elevated (mean 119.2 ± 66.6 RU/mL). Magnetic resonance enterography revealed normal fold pattern in all the patients. Ten (32%) patients had enlarged mesenteric lymph nodes. Conclusion: Although a majority of the patients had elevated anti-endomysial antibody levels indicating poor dietary compliance, magnetic resonance enterography did not show any mucosal abnormality associated with the inability of magnetic resonance enterography to detect mild/early changes of celiac disease in children. Therefore, it may not be useful for the follow-up of pediatric celiac disease.

Resumo Objetivo: Avaliar se a enterografia por ressonância magnética (ERM) consegue comprovar/mostrar a extensão da doença em pacientes pediátricos com doença celíaca (DC) comprovada por biópsia, comparar com um grupo de controle e correlacionar os achados da ERM com o nível de anticorpo antiendomísio (EMA) indicador de dieta sem glúten. Métodos: Foram recrutados 31 pacientes pediátricos (idade média entre 11,7 ± 3,1 anos) com DC comprovada por biópsia e 40 pacientes pediátricos em um grupo de controle. As imagens da ERM dos pacientes com DC e no grupo de controle foram avaliadas por dois radiologistas pediátricos às cegas para o padrão da mucosa, presença de espessamento da parede, dilatação luminal do intestino delgado e achados extraintestinais. Os prontuários dos pacientes foram revisados para anotação de características clínicas e achados laboratoriais. A avaliação histopatológica das biópsias duodenais foi feita novamente. Resultados: A duração média da doença foi 5,6 ± 1,8 anos (faixa de 3-7,2 anos). Em 24 (77%) dos pacientes, os níveis EMA estavam elevados (média 119,2 ± 66,6 RU/mL). A ERM revelou um padrão de pregas normal em todos os pacientes; 10 (32%) dos pacientes apresentaram gânglios linfáticos mesentéricos aumentados. Conclusão: Apesar de a maioria dos pacientes ter níveis elevados de EMA, o que indica uma dieta pobre, a ERM não mostrou anomalia na mucosa associada à incapacidade de a ERM detectar alterações leves/precoces de DC nas crianças. Portanto, ela pode não ser útil no acompanhamento da DC pediátrica.

Apparent diffusion coefficient in differentiation of pediatric posterior fossa tumors.

PURPOSE: To investigate the contribution of preoperative apparent diffusion coefficient (ADC) values in the differential diagnosis of pediatric posterior fossa tumors. METHODS: Forty-two pediatric patients (mean age 7.76 ± 4.58 years) with intra-axial tumors in the infra-tentorial region underwent magnetic resonance imaging. ADC measurement was performed using regions of interest, obtained from the solid component of the mass lesions. ADC ratios were calculated by dividing the ADC values from the mass lesions by the ADC values from normal cerebellar parenchyma. Lesions were categorized as juvenile pilocytic astrocytoma (JPA), ependymoma and medulloblastoma based on histopathological diagnosis. ADC values of the lesions and histopathological diagnoses were statistically correlated. RESULTS: Histopathological diagnosis showed that 14 lesions were JPA, 10 were ependymoma; 18 were medulloblastoma. Both ADC values and ADC ratios were significantly correlated with tumor types (p <0.05). Astrocytoma was distinguished from ependymoma with sensitivity 85.7% and specificity 90% using an ADC ratio ≥1.7 and medulloblastoma was distinguished from ependymoma with sensitivity 100% and specificity 88.89% using an ADC ratio ≤1.18. CONCLUSION: Preoperative ADC values could differentiate the main histological subtypes of pediatric posterior fossa tumors with high sensitivity and specificity.

Magnetic resonance enterography in pediatric celiac disease.

OBJECTIVE: To assess if magnetic resonance enterography is capable of showing evidence/extent of disease in pediatric patients with biopsy-proven celiac disease by comparing with a control group, and to correlate the magnetic resonance enterography findings with anti-endomysial antibody level, which is an indicator of gluten-free dietary compliance. METHODS: Thirty-one pediatric patients (mean age 11.7±3.1 years) with biopsy-proven celiac disease and 40 pediatric patients as a control group were recruited in the study. The magnetic resonance enterography images of both patients with celiac disease and those of the control group were evaluated by two pediatric radiologists in a blinded manner for the mucosal pattern, presence of wall thickening, luminal distention of the small bowel, and extra-intestinal findings. Patient charts were reviewed to note clinical features and laboratory findings. The histopathologic review of the duodenal biopsies was re-conducted. RESULTS: The mean duration of the disease was 5.6±1.8 years (range: 3-7.2 years). In 24 (77%) of the patients, anti-endomysial antibody levels were elevated (mean 119.2±66.6RU/mL). Magnetic resonance enterography revealed normal fold pattern in all the patients. Ten (32%) patients had enlarged mesenteric lymph nodes. CONCLUSION: Although a majority of the patients had elevated anti-endomysial antibody levels indicating poor dietary compliance, magnetic resonance enterography did not show any mucosal abnormality associated with the inability of magnetic resonance enterography to detect mild/early changes of celiac disease in children. Therefore, it may not be useful for the follow-up of pediatric celiac disease.

Pediatric central nervous system tumors in the first 3 years of life: pre-operative mean platelet volume, neutrophil/lymphocyte count ratio, and white blood cell count correlate with the presence of a central nervous system tumor.

PURPOSE: The aim of this study is to describe the relationship of pre-operative complete blood count parameters [mean platelet volume (MPV), neutrophil/lymphocyte count ratio (NLCR), and white blood cell count (WBC)], with the clinical, radiological, and histopathological features and the management options for patients under 3 years of age with a newly diagnosed central nervous system tumors. METHODS: Children with central nervous system (CNS) tumors in the first 3 years of life admitted in the Erciyes University Hospital between April 2004 and April 2014 were enrolled in this study. The CBC parameters were compared with those of an age- and sex-matched normal control group. RESULTS: In the study group, the means of MPV and WBC were 8.00 ± 1.24 fl, and 10,855 ± 3642/mm3 respectively; the median (25-75%) of NLCR was 0.98 (0.66-1.46). For the control group, the means of MPV and WBC were 6.8 ± 0.73 fl and 8565 ± 2522/mm3; the median (25-75%) of NLCR was 0.52 (0.36-0.70). The MPV, WBC, and NLCR were higher in the study group. The median overall survival (OS) of the patients was 60 months (range 0-81.6 months); and median event free survival (EFS) was 24 months (range 0-70.1 months). The formulation of MPV, NLCR, and WBC was found to be predictive for the diagnosis of CNS tumor in children with nonspecific symptoms. The univariate and multiple binary regression analyses showed a positive association of MPV, NLCR, and WBC and the risk of a diagnosis of CNS tumor. There was no relationship between MPV, WBC, NLCR, and histological subgroups. However, there were no associations between CBC parameters and OS or EFS of the patients. CONCLUSIONS: By causing suspicion, MPV, NLCR, and WBC may provide both an earlier radiological investigation decision and thereby an early diagnosis of CNS tumor in children with nonspecific symptoms in the first 3 years of life.

Diffusion weighted imaging in differentiating malignant and benign neuroblastic tumors.

PURPOSE: Our aim was to assess diffusion weighted imaging (DWI) of neuroblastic tumors and whether apparent diffusion coefficient (ADC) value may have a role in discrimination among neuroblastoma, ganglioneuroblastoma and ganglioneuroma. MATERIAL AND METHODS: The DWIs (b = 0-800 s/mm(2)) of 24 children (13 girls, 11 boys) who were diagnosed neuroblastic tumors on histopathological examination (neuroblastoma = 15, ganglioneuroblastoma = 5, ganglioneuroma = 4) were evaluated retrospectively. The ADC maps were performed by drawing freehand ROI on PACS (Sectra Workstation IDS7, Linköping, Sweden). RESULTS: We observed a significant decrease in ADC value of neuroblastomas 0.869 ± 0.179 × 10(-3) mm(2)/s compared to ganglioneuroblastomas 0.97 ± 0.203 × 10(-3) mm(2)/s and ganglioneuromas 1.147 ± 0.299 × 10(-3) mm(2)/s (p = 0.026). There was no significant difference in between ganglioneuroblastoma and ganglioneuroma (p = 0.16). In detecting neuroblastomas; the sensitivity, specificity, negative and positive predictive values of ADC were 74, 67, 78.6, 66 % respectively with a cut-off value of 0.93 × 10(-3) mm(2)/s. CONCLUSION: Our study stands out as the most comprehensive study with larger sample size on this topic. Moreover, we are able to suggest a cut-off value which can discriminate neuroblastoma from ganglioneuroblastoma and ganglioneuroma. We believe that ADC will evolve to an objective, quantitative measurement in discrimination among malignant and benign neuroblastic tumors.

Characterization of tympanic cavity volume in newborns using computerized tomography scanning / Caracterización del volumen de la cavidad timpánica en recién nacidos usando tomografía computadorizada

This study reports tympanic cavity (TC) volume in newborns, which was missing in the literature. Ex vivo histology and computerized tomography (CT) scans were performed on temporal bone and data were analyzed in part using software developed in house. CT images with a slice thickness of 0.5 mm were obtained from 5 newborn cadavers and analyzed independently by two expert researchers. The border of the TC was delineated manually and measurement of area of interest was calculated on masked images. Then, the area measurements from all sections were added to estimate the total volume. The agreements between the histological and CT findings were then compared for accuracy, repeatability and reliability. The Dice and Jaccard similarity coefficient measures were used as a statistical validation metric to evaluate the assessor's performance in manual volume segmentation. Good assessor agreement was observed with average Dice values above 0.8 indicating that consistent and reliable volume measurements were feasible. The proposed protocol was shown to be accurate in calculating the TC volume, and thus can be used for computer-assisted presurgical planning or for diagnosing structural alterations in TC.

El objetivo fue determinar el volumen de la cavidad timpánica (CT) en recién nacidos, información no encontrada en la literatura. Se realizaron escaners a través de tomografia computadorizada (TC) y estudios histológicos en el hueso temporal; los datos se analizaron utilizando un software desarrollado en nuestra institución. Se obtuvieron imágenes de secciones de TC, de 0,5 mm de grosor, a partir de 5 cadáveres de recién nacidos, los que fueron analizados de forma independiente por dos investigadores expertos. El margen de los cortes de TC fue delineado manualmente y la medición del área de interés se estimó sobre imágenes ocultas. Después, se añadieron las mediciones de área de todas las secciones para estimar el volumen total. Las concordancias entre el estudio histológico y los hallazgos de la TC se compararon en cuanto a precisión, repetibilidad y confiabilidad. Se utilizaron las medidas de coeficiente de similitud de Jaccard y Dice como métrica de validación estadística para evaluar el desempeño del asesor en la medición manual del volumen. Se observó una buena correlación del evaluador con los valores medios de Dice, por encima de 0,8 indicando que es factible obtener mediciones coherentes y confiables de volumen. El protocolo propuesto ha demostrado ser preciso para calcular el volumen de la CT, y por lo tanto se puede utilizar para la planificación prequirúrgica asistida o para el diagnóstico de alteraciones estructurales en la CT.

The Age-Related Development of Maxillary Sinus in Children.

INTRODUCTION: Paranasal sinuses are complex structures and show individual variation. Providing normative values for paranasal sinus size and their changes related to age could be helpful in evaluating the presence of some diseases related to sinonasal region. The purpose of the current study was to investigate the development of maxillary sinuses and evaluate the volume changes according to age and sex by using stereological and ellipsoidal formula methods after that to compare these approaches with each other in children. MATERIALS AND METHODS: This retrospective volumetric computed tomography (CT) study was carried out on 361 individuals (180 females, 181 males) between 0 and 18 years old (10 females, 10 males in each group, only 14 age group includes 11 males) with no signs of sinus pathology volumetric estimations determined on CT images using point-counting approach of stereological methods and ellipsoid formula by using morphometric data. RESULTS: Maxillary sinus volume measurements that were obtained using 2 methods were increased with age in both sexes until 16 years old. There was a significant correlation determined between 2 methods (ICC 0.894-1.000 for right and 0.862-0.999 for left maxillary sinus measurements). According to the sex, the right and left mean maxillary sinuses volumes were determined at 8.30 ± 5.19 and 8.57 ± 5.53 cm(3) in male and at 7.60 ± 4.57 and 7.99 ± 4.73 cm(3) in female by using ellipsoid formula respectively. By the stereological method these values were 8.28 ± 5.26, 8.44 ± 5.35 cm(3) and 7.64 ± 4.55, 7.85 ± 4.73 cm(3) respectively. There was no statistically significant difference between the volume of maxillary sinuses with sex and side using both methods. CONCLUSIONS: This study presents the basic data for studies relative to the development of the maxillary sinus in children according to 2 methods. The current study demonstrated that the point-counting method and ellipsoid formula are both effective in determining volume estimation of maxillary sinuses and are well suited for CT studies.

Inflammatory Myofibroblastic Tumor of the Kidney and Bilateral Lung Nodules in a Child Mimicking Wilms Tumor With Lung Metastases.

Renal inflammatory myofibroblastic tumor (IMT) is an extremely rare lesion especially in children. This report describes a case of renal IMT accompanied by multiple lung nodules mimicking Wilms tumor with lung metastasis in a 3-year-old boy. To our knowledge, this is a unique case of IMT which has not been reported in the literature previously.

Susceptibility-Based Differentiation of Intracranial Calcification and Hemorrhage in Pediatric Patients.

Differential diagnosis of intracranial hemorrhage versus calcification on conventional magnetic resonance images (MRIs) is often challenging. Although computed tomography (CT) confirms calcification, phase information obtained during susceptibility-weighted imaging can be useful in distinguishing between 2 pathologies. Fourteen patients previously diagnosed to have hemorrhage or calcification with imaging were included in the study retrospectively. Phase shift values of hemorrhage and calcification were compared by using Student t test. The pathologies identified were tuberous sclerosis, Sturge-Weber syndrome, craniopharyngioma, congenital cytomegalovirus, subependymal hemorrhages, and hemorrhagic microembolic infarction. Calcifications appeared hypointense whereas hemorrhages were hyperintense on phase maps (left-handed magnetic resonance system). Statistical comparison of phase shift values yielded significant difference between hemorrhage versus calcification (P < .01). Phase maps were found to offer valuable data to differentiate 2 pathologies when used complementary to conventional magnetic resonance images. Considering the relatively higher risks of radiation exposure in children, susceptibility-weighted imaging with phase maps may help to waive radiation exposure from CT.

MR imaging findings in children with pseudotumor cerebri and comparison with healthy controls.

OBJECTIVE: The aim of this study was to discuss the MR imaging findings of pseudotumor cerebri in children by comparing with healthy controls. MATERIALS AND METHODS: Forty-two pseudotumor cerebri patients from hospital records between 2003 and 2011 were retrospectively reviewed. Between 2007 and 2011 25 patients (16 boys, 9 girls) whose brain MR images were on PACS workstation were included. Thirty MR imaging examinations (14 boys, 16 girls) which were interpreted as normal constituted the control group. Two pediatric radiologists reviewed each MRI for optic nerve sheath distension, intraocular protrusion of the optic nerve, posterior globe flattening, horizontal tortuosity of the optic nerve, and decreased pituitary gland size. The sensitivity, specificity, and overall accuracy of the findings on MRI were calculated. RESULTS: Optic nerve sheath enlarged in the PTC group (mean value, 4.3 mm) than in the control group (mean value, 3.2 mm). It had 88 % sensitivity and 80 % specificity. Pituitary gland size was decreased in PTC group (mean value, 3.63 mm) than in the control group (mean value, 5.05 mm). It had a sensitivity of 64 % and specificity of 90 %. Posterior globe flattening had 56 % sensitivity and 100 % specificity, intraocular protrusion of the optic nerve had 40 % sensitivity and 100 % specificity, and horizontal tortuosity of the optic nerve had 68 % sensitivity and 83 % specificity. CONCLUSIONS: According to our study, posterior globe flattening, intraocular protrusion of the optic nerve, horizontal nerve sheath tortuosity, optic nerve sheath distension, and decreased pituitary gland size are reliable neuroradiological diagnostic markers for pediatric pseudotumor cerebri.

Neurofibromas of the bladder in a child with neurofibromatosis type 1 causing chronic renal disease.

Neurofibromatosis type 1 (NF1) is an autosomal-dominant inherited disorder and its prominent feature is the neurofibroma and renal involvement includes renal artery stenosis and renal artery aneurysms causing renovascular hypertension. The genitourinary tract may be rarely involved, leading to urinary symptoms of obstruction and hydronephrosis. Herein, we report a 12-year-old boy with chronic renal failure associated with neurofibromas of the bladder, which leads to urinary obstruction.

Evaluation of pediatric thoracic disorders: comparison of unenhanced fast-imaging-sequence 1.5-T MRI and contrast-enhanced MDCT.

OBJECTIVE: The purpose of this study was to investigate the efficacy of thoracic MRI with fast imaging sequences without contrast administration at 1.5 T for evaluating thoracic abnormalities by comparing MRI findings with contrast-enhanced MDCT findings. SUBJECTS AND METHODS: A prospective study included consecutively registered pediatric patients who from December 2009 to January 2012 underwent thoracic MDCT followed within 2 days by MRI for evaluation of thoracic abnormalities. The final study sample consisted of 71 children (36 boys, 35 girls; mean age, 8.6 ± 4.5 years; range, 2 months-16 years) and 71 paired thoracic MRI and MDCT studies. Thoracic MRI was performed in the axial and coronal planes with the following fast imaging sequences: T1-weighted fast-field echo inversion prepulse, T2-weighted balanced fast-field echo multiple 2D, T1- and T2-weighted turbo spin-echo cardiac-triggering parallel imaging technique without cardiac monitoring, and STIR. Thoracic MDCT was performed with i.v. contrast administration. Two pediatric radiologists independently reviewed each MRI and MDCT study for abnormalities in the lung, large airways, and mediastinal, pleural, and musculoskeletal structures. The sensitivity, specificity, and overall accuracy of MRI were calculated. Interobserver agreement was measured with the kappa coefficient. RESULTS: With MDCT as the reference standard, 51 of 71 (72%) patients had abnormal findings on MDCT studies, including infections in 21 (42%) cases, neoplasms in 19 (37%) cases, interstitial lung disease in seven (14%) cases, pleural effusion in three (6%) cases, and congenital bronchogenic cyst in one (2%) case. The overall diagnostic accuracy, sensitivity, and specificity of MRI for detecting thoracic abnormalities were 69 of 71 (97%), 49 of 51 (96%), and 20 of 20 (100%). Two undiagnosed findings with MRI that were detected with MDCT were mild bronchiectasis and small pulmonary nodule (3 mm). Almost perfect interobserver agreement was found between two reviewers with 70 of 71 agreements (κ = 0.97; 95% CI, 0.92-1.00; p < 0.001). CONCLUSION; MRI with fast imaging sequences without contrast administration is comparable to contrast-enhanced MDCT for detecting thoracic abnormalities in pediatric patients. Use of MRI with fast imaging sequences without contrast administration as a first-line cross-sectional imaging study in lieu of contrast-enhanced MDCT has the potential to benefit this patient population owing to reduced radiation exposure and i.v. contrast administration.

Gastric signet ring carcinoma in a patient with ataxia-telangiectasia: a case report and review of the literature.

Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency disease characterized by progressive cerebellar ataxia, telangiectasia, sinopulmoner recurrent infections, and cancer susceptibility. Individuals with A-T are known to be at increased risk of certain malignancies including leukemia, lymphoma, and breast and gastric cancer. We present an 18-year-old case of A-T with Hashimoto thyroiditis who admitted with complaints of nausea, vomiting, anorexia, and weight loss. An upper endoscopic biopsy revealed gastric signet ring cell carcinoma. To the best of our knowledge, we report the first case of signet ring cell carcinoma in the patient with A-T. Our experience with occurrence of Hashimoto thyroiditis and gastric signet ring cell carcinoma in the same case of A-T underlines that the clinicians handling A-T must be vigilant about both malignancy and autoimmune disorders.