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Cir Pediatr ; 35(1): 50-54, 2022 Jan 01.
Article in English, Spanish | MEDLINE | ID: mdl-35037442


Congenital megaprepuce is a urological pathology typical of childhood. It can be easily mistaken for other clinical entities such as physiological phimosis or buried penis. Owing to the risk of associated complications - primarily infectious and obstructive complications, with upper urinary tract involvement -, achieving an accurate diagnosis proves particularly significant for early treatment initiation. We present three cases of congenital megaprepuce diagnosed and operated on at our department from January 2019 to May 2020. Diagnosis, therapy, and clinical progression are described.

El megaprepucio congénito es una patología urológica propia de la infancia que puede ser fácilmente confundida con otras entidades clínicas como la fimosis fisiológica o el pene enterrado. Debido al riesgo de complicaciones asociadas, principalmente de carácter infeccioso u obstructivo con afectación del tracto urinario superior, es importante incidir en su correcto diagnóstico de cara a ofertar un tratamiento precoz. Presentamos tres casos de megaprepucio congénito, diagnosticados e intervenidos en nuestro servicio durante el periodo comprendido entre enero de 2019 y mayo de 2020, describiéndose el diagnóstico, la terapéutica empleada y la evolución clínica.

Phimosis , Diagnosis, Differential , Humans , Male , Penis , Phimosis/surgery , Prognosis , Urologic Surgical Procedures, Male
J Int Med Res ; 50(1): 3000605211072664, 2022 Jan.
Article in English | MEDLINE | ID: mdl-35023387


Bronchogenic cysts are a congenital primitive foregut-derived developmental malformation, generally occurring in the posterior mediastinum. Their development in the retroperitoneum is extremely rare. Imaging techniques, such as multidetector computed tomography (MDCT), are typically effective in the detection of these lesions. Here, we describe three cases of a retroperitoneal cyst presenting as a para-adrenal mass. Only one boy presented with abdominal pain, and the other two showed no clinical symptoms. Endocrinological evaluation of all three cases was performed, and no adrenal hormone secretion was detected. All three cases were misdiagnosed preoperatively. Each patient underwent surgery, and one symptomatic patient became asymptomatic after surgery. Pathologic examination confirmed all three masses as bronchogenic cysts. The three cases showed some similar MDCT imaging features, including a complete adrenal structure, a cystic or solid mass in the adrenal region, and no obvious enhancement. Therefore, bronchogenic cysts should be considered in the differential diagnosis of retroperitoneal masses, even though accurate preoperative diagnosis remains difficult. A contrast-enhanced MDCT scan may be useful for differentiating hyper-attenuated cysts from other soft tissue masses.

Adrenal Gland Neoplasms , Bronchogenic Cyst , Adrenal Gland Neoplasms/diagnosis , Adrenal Glands/diagnostic imaging , Adrenal Glands/surgery , Bronchogenic Cyst/diagnostic imaging , Bronchogenic Cyst/surgery , Diagnosis, Differential , Humans , Male , Retroperitoneal Space/diagnostic imaging
Medicine (Baltimore) ; 101(1): e28435, 2022 Jan 07.
Article in English | MEDLINE | ID: mdl-35029890


RATIONALE: Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency of ß-galactosidase. Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the diagnosis of this disease is not easy, specifically in late infantile GM1 gangliosidosis. This report described a case of late-infantile GM1 gangliosidosis mistaken for juvenile idiopathic arthritis. PATIENT CONCERNS: A 16-year-old girl was referred to our hospital due to persistent multiple joint deformities and mental retardation, which could not be explained by juvenile idiopathic arthritis. DIAGNOSIS: We made a diagnosis of late infantile GM1 gangliosidosis through enzyme assays and genetic testing after a skeletal survey. INTERVENTIONS: The patient underwent cervical domeplasty and laminectomy for cord compression and received rehabilitation treatment. OUTCOMES: The patient is receiving multidisciplinary care at a tertiary center for variable skeletal disease and conditions associated with GM1 gangliosidosis. LESSONS: Late infantile GM1 gangliosidosis should be considered in the differential diagnosis of progressive neurologic decline and skeletal dysostosis.

Gangliosidosis, GM1/diagnosis , beta-Galactosidase/deficiency , Adolescent , Arthritis, Juvenile , Diagnosis, Differential , Female , Humans , Lysosomal Storage Diseases , Magnetic Resonance Imaging
BMJ Case Rep ; 15(1)2022 Jan 04.
Article in English | MEDLINE | ID: mdl-34983807


Congenital granular cell epulis is a congenital growth rarely found on the gingiva of neonates. These remarkably large tumours present in an infant's mouth may impede with feeding, respiration or adequate mouth closure. Recognition of this entity and prompt treatment are essential for preventing any difficulties for the neonate. This is a case report of a 35-day-old female neonate who presented with a single exophytic lesion in the maxillary alveolar ridge. The differential diagnosis, management regimens and complications of this condition are reviewed. The lesion was excised under intravenous sedation and subjected to histopathological analysis. Based on the microscopic findings, the diagnosis of congenital granular cell epulis was confirmed. Clinicians including paediatricians, sonographers, dentists and surgical pathologists should be able to timely recognise and intervene such tumours as they may be potentially harmful to the infant.

Gingival Neoplasms , Granular Cell Tumor , Alveolar Process , Diagnosis, Differential , Female , Gingiva , Gingival Neoplasms/diagnosis , Gingival Neoplasms/surgery , Granular Cell Tumor/diagnosis , Granular Cell Tumor/surgery , Humans , Maxilla
Praxis (Bern 1994) ; 110(1): 8-10, 2022 Jan.
Article in German | MEDLINE | ID: mdl-34983212


CME-ECG 70: Chest Pain in a Young Patient - Differential Diagnoses beyond the Acute Coronary Syndrome Abstract. CME-ECG 70: Chest Pain in a Young Patient - Differential Diagnoses beyond the Acute Coronary Syndrome Older patients with chest pain and typical ECG changes are most likely to be diagnosed with cardiovascular diseases. However, younger patients with similar symptoms may reveal different disease patterns. In this case report, differential diagnoses and diagnostic steps, with particular attention to the ECG, will be discussed.

Acute Coronary Syndrome , Acute Coronary Syndrome/diagnosis , Chest Pain/diagnosis , Chest Pain/etiology , Diagnosis, Differential , Electrocardiography , Humans
Clin Nucl Med ; 47(2): 117-122, 2022 Feb 01.
Article in English | MEDLINE | ID: mdl-35006105


PURPOSE: The aim is to investigate the diagnostic performance of multimodal imaging with 18F-FDG PET/CT, MRI, and contrast-enhanced CT (CECT) in cases with unilateral or bilateral ovarian mass without ancillary findings of malignancy. METHODS: Retrospectively, 307 patients who had unilateral or bilateral ovarian masses and underwent preoperative FDG PET/CT and/or MRI/CECT were included. The criterion standard for the ovarian mass was the final pathology. The peak standardized uptake value (SULpeak) among benign tumors (BTs), borderline ovarian tumors (BoTs), and malignant ovarian tumors (MTs) were compared. The cutoff value of SULpeak to discriminate between BT/BoT and MT was determined from the training (n = 200) and validation (n = 131) cohorts. Diagnostic performances of SULpeak, Ovarian-Adnexal Reporting Data System (O-RADS) MRI score, CECT findings, and combination of multimodal imagings were analyzed. RESULTS: SULpeak of MT was significantly higher than that of BT or BoT (P < 0.05). There was no significant difference in SULpeak between BT and BoT (P = 0.147). The cutoff value of SULpeak for discriminating between BT/BoT and MT was 1.76 (sensitivity, 87.0%; specificity, 83.0%). Diagnostic performance for BT/BoT versus MT of O-RADS MRI, CECT, FDG PET/CT plus O-RADS MRI score, and FDG PET/CT plus CECT yielded the respective sensitivities of 100%, 94%, 95%, and 82%, and specificities of 43%, 46%, 88%, and 91%, respectively. CONCLUSIONS: Multimodal imaging biomarkers including FDG PET/CT and MR/CECT could provide additional information to differentiate ovarian masses.

Ovarian Neoplasms , Positron Emission Tomography Computed Tomography , Biomarkers , Diagnosis, Differential , Fluorodeoxyglucose F18 , Humans , Molecular Imaging , Positron-Emission Tomography , Radiopharmaceuticals , Retrospective Studies , Tomography, X-Ray Computed
BMJ Case Rep ; 15(1)2022 Jan 06.
Article in English | MEDLINE | ID: mdl-34992056


Differential diagnosis of a new abdominal mass is broad and includes infection, malignancy and other inflammatory processes. Definitive diagnosis may be challenging without invasive biopsy, as history, physical exam and imaging may be non-specific. A 69-year-old man with a history of abdominal tuberculosis presented with a new painful abdominal cyst consistent with reactivation of tuberculosis versus new malignancy. Investigations revealed 4+ acid-fast bacilli from the aspirate suggestive of tuberculosis, but no improvement was noted on antituberculous therapy. Core needle biopsy noted c-KIT-positive spindle cells, diagnostic for a gastrointestinal stromal tumour, while cultures grew non-tuberculous mycobacteria.

Cysts , Gastrointestinal Stromal Tumors , Tuberculosis, Gastrointestinal , Tuberculosis , Abdomen/diagnostic imaging , Aged , Diagnosis, Differential , Gastrointestinal Stromal Tumors/diagnosis , Humans , Male , Tuberculosis/diagnosis , Tuberculosis/drug therapy , Tuberculosis, Gastrointestinal/complications , Tuberculosis, Gastrointestinal/diagnosis , Tuberculosis, Gastrointestinal/drug therapy
Gen Dent ; 70(1): 26-29, 2022.
Article in English | MEDLINE | ID: mdl-34978986


A cartilaginous choristoma is a nonneoplastic nodular growth of histologically normal cartilage in an abnormal site. This report describes a case of a cartilaginous choristoma on the lateral surface of the tongue in a 65-year-old woman. The entire lesion was excised, and histologic examination revealed mature cartilaginous tissue surrounded by dense connective tissue. Choristomas are rare findings in the oral cavity, easily confused with proliferative processes or soft tissue neoplasms. Nevertheless, choristomas may be part of the differential diagnosis for lesions similar to the one described in this case report.

Choristoma , Tongue Diseases , Aged , Cartilage , Choristoma/diagnosis , Choristoma/surgery , Diagnosis, Differential , Female , Humans , Tongue , Tongue Diseases/diagnosis , Tongue Diseases/surgery
Zhonghua Bing Li Xue Za Zhi ; 51(1): 33-38, 2022 Jan 08.
Article in Chinese | MEDLINE | ID: mdl-34979751


Objective: To investigate the clinicopathological characteristics and differential diagnosis of pediatric SMARCB1/INI1-deficient poorly differentiated chordoma (PDC) of the skull base. Methods: Five cases of SMARCB1/INI1-deficient PDC were identified in 139 cases of chordoma diagnosed in Sanbo Brain Institute, Capital Medical University, Beijing, China from March 2017 to March 2021. The clinical and imaging data of the 5 PDCs were collected. H&E and immunohistochemical staining, and DNA methylation array were used, and the relevant literatures were reviewed. Results: All 5 PDCs were located at the clivus. The average age of the patients was 6.4 years, ranging from 3 to 16 years. Three patients were female and two were male. Morphologically, in contrast with classical chordomas, they presented as epithelioid or spindle tumor cells organized in sheets or nests, with necrosis, active mitoses, and infiltration into surrounding tissue. All cases showed positivity of CKpan, EMA, vimentin and brachyury (nuclear stain), and loss of nuclear SMARCB1/INI1 expression. S-100 protein expression was not frequent (2/5). Ki-67 proliferative index was high (20%-50%). All cases had over-expressed p53. It was necessary to differentiate SMARCB1/INI1-dificient PDC from SMARCB1/INI1-dificient tumors occurring at skull base of children or the tumors with epithelial and spindle cell morphological features. The 3 PDCs with DNA methylation testing showed the methylation profiles different from the pediatric atypical teratoid/rhabdoid tumors. They formed an independent methylation profile cluster. The clinical prognosis of the 5 patients was poor, and the overall survival time was 2-17 months. Conclusions: PDC is a special subtype of chordoma, which often affects children and occurs in the clivus. The PDC shares epithelioid or spindle cell morphologic features which are different from the classic chordoma. Besides the typical immunohistochemical profile of chordoma, PDC also has loss of nuclear SMARCB1/INI1 expression and distinct epigenetic characteristics.

Chordoma , Rhabdoid Tumor , Biomarkers, Tumor/genetics , Child , Chordoma/diagnosis , Chordoma/genetics , Diagnosis, Differential , Female , Humans , Male , Prognosis , Rhabdoid Tumor/diagnosis , SMARCB1 Protein/genetics , Skull Base
In Vivo ; 36(1): 446-449, 2022.
Article in English | MEDLINE | ID: mdl-34972747


BACKGROUND/AIM: Measuring the fraction of exhaled nitric oxide (FeNO) is useful in the diagnosis of asthma and cough variant asthma. The aim of this study was to clarify the significance of measuring the FeNO in the differential diagnosis of acute cough. PATIENTS AND METHODS: We analyzed 80 patients who visited the clinic with the chief complaint of acute cough having experienced an asthma-like episode from January 2014 to July 2015. RESULTS: Infectious cough alone was present in 21% of patients, while 30% had asthmatic cough alone and 49% had a combination of infectious and asthmatic cough. The values of FeNO in those with asthmatic cough (30.4±24.7 ppb) and asthmatic/infectious cough (33.2±17.4 ppb) were significantly higher than those with just infectious cough (13.7±3.2 ppb) (p=0.0089 and p<0.0001, respectively). CONCLUSION: FeNO measurement is useful for distinguishing asthmatic diseases, even in the differential diagnosis of acute cough.

Asthma , Nitric Oxide , Asthma/diagnosis , Cough/diagnosis , Cough/etiology , Diagnosis, Differential , Exhalation , Humans
Cir Pediatr ; 35(1): 36-41, 2022 Jan 01.
Article in English, Spanish | MEDLINE | ID: mdl-35037439


OBJECTIVES: To review intestinal duplications isolated from the digestive tract. MATERIAL AND METHODS: Description of the 27 isolated intestinal duplication cases published; presentation of a new case. RESULTS: Intestinal duplication isolated from the digestive tract represents an extremely rare malformation. This type of duplication is not in close contact with any segment of the intestinal tract, and it has its own vascular pedicle. Preoperative diagnosis rates are lower than those found in classic duplications. In addition to the potential complications, malformation torsion is also to be considered. CONCLUSIONS: This infrequent variant is to be considered at differential diagnosis. Potential torsion should also be taken into account in order to decide when an asymptomatic patient should undergo surgery.

OBJETIVOS: Revisión de las duplicaciones intestinales aisladas, sin conexión con el tracto digestivo. MATERIAL Y METODOS: Se recopilan los 27 casos de duplicación intestinal aislada publicados hasta el momento y se presenta un nuevo caso. RESULTADOS: Las duplicaciones intestinales aisladas sin conexión con el tracto digestivo representan una variante de la malformación extremadamente rara. Este tipo de duplicaciones no están en contacto íntimo con ningún segmento del tracto intestinal y cuelgan de un pe­dículo vascular propio. Tienen menos tasa de diagnóstico prequirúrgico que las duplicaciones clásicas y a las posibles complicaciones hay que añadir la torsión de la malformación. CONCLUSIONES: Es interesante conocer esta variante infrecuente para considerarla en el diagnóstico diferencial. La posibilidad añadida de torsión debe tenerse en cuenta para decidir el momento de la cirugía en el paciente asintomático.

Digestive System Abnormalities , Diagnosis, Differential , Digestive System Abnormalities/diagnosis , Digestive System Abnormalities/surgery , Humans , Intestines , Tomography, X-Ray Computed
Medicina (B Aires) ; 82(1): 142-146, 2022.
Article in Spanish | MEDLINE | ID: mdl-35037873


A 40-year-old woman was scheduled to receive chemotherapy for a high-risk common B-cell acute lymphoblastic leukemia (ALL), diagnosed 10 months earlier in the wake of lower limb bruising and petechiae, and metrorrhagia. At that time, she had thrombocytopenia and a normal transvaginal gynecological ultrasound. Upon admission, she complained of a 3-month history of incapacitating left groin pain radiated to the thigh, and right lower quadrant abdominal pain associated with diarrhea. On physical examination, she had tenderness in the right iliac fossa and a positive psoas sign on the left. Computerized scan of the abdomen and pelvis reported an image compatible with a left psoas abscess and signs of typhlitis. The biopsy of the left psoas muscle demonstrated infiltration by nests and cords of moderately differentiated keratinizing squamous carcinoma. Gynecological examination revealed macroscopic abnormalities of the cervix correlated with the same histopathological diagnosis. The second primary cancers most frequently associated with ALL are Hodgkin lymphoma, squamous skin cancer, endocrine tumors, kidney cancer, non-Hodgkin lymphoma, and breast cancer. Muscle metastases from solid tumors are rare, and usually arise from the lung, kidney, thyroid, and melanoma. Malignant psoas syndrome is caused by neoplastic infiltration of the muscle. The differential diagnosis should be made with a psoas abscess, which may arise from typhlitis if secondary. We have not been able to find records of cervical cancer as second primary cancer after ALL.

Una mujer de 40 años se internó de forma programada para recibir quimioterapia por una leucemia linfoblástica aguda (LLA) B común de alto riesgo, diagnosticada 10 meses antes a raíz de hematomas y petequias en los miembros inferiores, y metrorragia. En ese momento, presentaba trombocitopenia y una ecografía ginecológica transvaginal normal. Al ingreso de la internación programada, se quejó de dolor inguinal izquierdo con irradiación al muslo e impotencia funcional de 3 meses de evolución, dolor en fosa ilíaca derecha y diarrea. En el examen físico tenía dolor a la palpación profunda en la fosa ilíaca derecha y signo del psoas positivo a la izquierda. La tomografía de abdomen y pelvis reveló una imagen compatible con un absceso del psoas izquierdo y signos de tiflitis. La biopsia del psoas izquierdo demostró infiltración por nidos y cordones de carcinoma escamoso queratinizante moderadamente diferenciado. El examen ginecológico dirigido evidenció anomalías macroscópicas del cuello uterino correlacionadas con el mismo diagnóstico histopatológico. Los segundos cánceres primarios más frecuentemente asociados a LLA son linfoma de Hodgkin, cáncer escamoso de piel, tumores endocrinos, cáncer renal, linfoma no-Hodgkin y cáncer de mama. Las metástasis musculares de tumores sólidos son infrecuentes, y habitualmente provienen del pulmón, riñón, tiroides y melanoma. El síndrome del psoas maligno es causado por infiltración neoplásica del músculo. El diagnóstico diferencial debe realizarse con el absceso del psoas, que puede originarse en una tiflitis si es secundario. No hemos podido encontrar registros de cáncer de cuello uterino como segundo cáncer primario luego de LLA.

Carcinoma, Squamous Cell , Psoas Abscess , Uterine Cervical Neoplasms , Adult , Biopsy , Diagnosis, Differential , Female , Humans , Psoas Abscess/diagnosis