Staging and evaluation of neoadjuvant chemotherapy response with 18F-FDG PET/CT in NUT-midline carcinoma in a child: A case report and review of the literature / Estadificación y evaluación de la respuesta a quimioterapia neoadyuvante con 18F-FDG PET/TAC en carcinoma de línea media - NUT en un niño: presentación de un caso y revisión de la bibliografía

NUT midline carcinoma (NMC) is a newly defined and lethal cancer with aggressive course. It mostly affects children and young adults. Diagnosis is confirmed with the evidence of BRD4-NUT mutation on the chromosome 15q14 by fluorescence in situ hybridization. Use of 18F-FDG PET/CT in NMC patients is very limited in the literature. In this report, we describe a 7-year-old boy with the diagnosis of NMC who was scanned with 18F-FDG PET/CT for staging and treatment response evaluation after the chemotherapy. It was disseminated and had moderate FDG avidity in the initial scan and showed progression after 4 cycles of chemotherapy. We also reviewed the literature related to 18F-FDG PET/CT in staging and assessment of chemotherapy response of NMC (AU)

El Carcinoma de línea media - NUT (NMC), es un cáncer letal recientemente definido con un curso agresivo. Afecta sobre todo a niños y jóvenes adultos. El diagnóstico se confirma con la evidencia de la mutación de BRD4-NUT en el cromosoma 15q14 mediante hibridación fluorescente in situ. El uso de 18F-FDG PET/TAC en pacientes con NMC está muy limitado en la bibliografía. En este informe describimos un niño de 7 años con un diagnóstico de NMC que ha sido explorado con 18F-FDG PET/TAC para la preparación y evaluación de la respuesta a la quimioterapia. El NMC estaba diseminado y mostraba una moderada captación de FDG en una exploración inicial y presentando una progresión después de 4 ciclos de quimioterapia. También analizamos la bibliografía relacionada con 18F-FDG PET/TAC en la estadificación y evaluación de la repuesta a la quimioterapia del NMC (AU)

Staging and evaluation of neoadjuvant chemotherapy response with ¹8F-FDG PET/CT in NUT-midline carcinoma in a child: a case report and review of the literature.

NUT midline carcinoma (NMC) is a newly defined and lethal cancer with aggressive course. It mostly affects children and young adults. Diagnosis is confirmed with the evidence of BRD4-NUT mutation on the chromosome 15q14 by fluorescence in situ hybridization. Use of (18)F-FDG PET/CT in NMC patients is very limited in the literature. In this report, we describe a 7-year-old boy with the diagnosis of NMC who was scanned with (18)F-FDG PET/CT for staging and treatment response evaluation after the chemotherapy. It was disseminated and had moderate FDG avidity in the initial scan and showed progression after 4 cycles of chemotherapy. We also reviewed the literature related to (18)F-FDG PET/CT in staging and assessment of chemotherapy response of NMC.

Evaluation of normal appearing white matter in multiple sclerosis: comparison of diffusion magnetic resonance, magnetization transfer imaging and multivoxel magnetic resonance spectroscopy findings with expanded disability status scale.

PURPOSE: The aim of this study was to determine diffusion magnetic resonance imaging (MRI), magnetization transfer (MT) imaging and multivoxel MR spectroscopy findings in plaques, periplaque white matter and normal appearing white matter (NAWM) regions in multiple sclerosis (MS) and to correlate the findings with the expanded disability status scale (EDSS). METHODS: A total of 30 patients with MS and 30 healthy control subjects were studied and apparent diffusion coefficient (ADC) values, MT ratio (MTR), N-acetyl-aspartate/creatine (NAA/Cr) and choline/creatine (Cho/Cr) ratios were measured in plaques, periplaques and NAWM regions and compared with the control subjects. RESULTS: The MTR and NAA/Cr ratio were decreased more in plaques than periplaques and NAWM, in contrast ADC values and Cho/Cr ratios were highest in plaques and higher in periplaques than in NAWM. Decreased MTR and NAA/Cr in NAWM demonstrated moderate inverse correlations (r = - 0.604, p < 0.001 and r = - 0.494, p < 0.001, respectively) while Cho/Cr ratios and ADC of NAWM demonstrated weak linear correlations (r = 0.370, p = 0.004, r = 0.297, p = 0.021 respectively) with EDSS. CONCLUSIONS: The MS, MTR and MR spectroscopy findings were found to be useful for detecting subtle abnormalities in NAWM. Although ADC values were significantly altered in plaque and periplaque regions a significance difference was not found in NAWM.

Membranous structures affecting the success of endoscopic third ventriculostomy in adult aqueductus sylvii stenosis.

BACKGROUND: The purpose of the present study was to observe Liliequist's membrane (LM) and membranous structures located in the prepontine cistern via 3-Tesla magnetic resonance imaging (MRI) with 3D driven equilibrium radio frequency reset pulse (DRIVE) sequence and multiplanar reformat (MPR) images and to evaluate the success of endoscopic third ventriculostomy (ETV) by assessing these membranes in adult aqueduct stenosis. PATIENTS: 29 patients (17 female, 12 male) with primary aqueductus sylvii stenosis were included in the study. 19 patients were diagnosed as long-standing overt ventriculomegaly in adults (LOVA) and patients had severe ventriculomegaly, macrocephalus, and aqueduct stenosis on MR imaging. 10 patients were diagnosed as aqueduct stenosis presented with acute onset of hydrocephalus with symptoms of raised ICP. All patients in the study group were analyzed with conventional and cine MRI before and after treatment. We performed 3D DRIVE sequence and MPR at 3-T MR equipment to determine the membranous structures in 3 dimensions. We correlated the success of the procedure considering the preoperative, postoperative MRI and intraoperative images. RESULTS: 5 patients (26.3%) with LOVA and 2 patients (20%) with aqueduct stenosis, in total 7 patients (24.1%), did not respond to ETV. Cerebrospinal fluid (CSF) flow was blocked by membranous structures located in the prepontine cistern in 4 of 8 patients. In 2 patients, CSF through the stoma was blocked either by the LM or closed tuber cinerum. In 1 patient insufficient CSF flow was observed through the stoma and the LM accompanying prepontine membranes.Totally closed membranes were observed in the prepontine cistern in 5 patients (17.24%) according to the postoperative MRI. LM was verified in all patients intraoperatively that were also demonstrated in the preoperative MRI. CONCLUSION: 3D sequences with MPR may help to observe not only the LM but also other membranes located through the prepontine cistern, which may be the reason of failed ETV.

H-type tracheoesophageal fistula in an extremely low birth weight premature neonate: appearance on magnetic resonance imaging.

Many diagnostic methods have been used to establish the diagnosis for a suspected H-type tracheoesophageal fistula (TEF). In case of a strong assumption of an H-type fistula, besides all standard diagnostic work-up tools a more aggressive combined approach is advisable. However, in a critically ill premature infant, conventional invasive investigations could not be performed as being potentially hazardous and not always easy to achieve. We describe the unique imaging features of an H-type TEF on magnetic resonance imaging (MRI). Our case demonstrates that MR images could be used for diagnosis, and localization of an H-type TEF could be detected safely and accurately in a sick preterm infant.

Magnetic resonance imaging measurement of left ventricular blood flow and coronary flow reserve in patients with chronic heart failure due to coronary artery disease.

BACKGROUND: Coronary sinus flow reflects global cardiac perfusion and has been used for the assessment of myocardial flow reserve, which is reduced in chronic heart failure(CHF). Coronary flow reserve (CFR) can be measured by using phase-contrast (PC)velocity-encoded cine (VEC) magnetic resonance imaging (MRI). PURPOSE: To quantify and compare global left ventricular (LV) perfusion and CFR inpatients with CHF and in a healthy control group by measuring coronary sinus flow with PC VEC MRI, and to correlate this with global LV perfusion, segmental first-pass perfusion, and viability in the same patients. MATERIAL AND METHODS: Cardiac MRI was performed in 20 patients with CHF of ischemic origin and in a control group of healthy subjects (n=11) at rest and after pharmacological stress induced by i.v. dipyridamole. The MRI protocol included cine MRI, VEC MRI, first-pass perfusion, and delayed contrast-enhanced MRI for viability.Global LV perfusion was quantified by measuring coronary sinus flow on VEC MRI at rest in all subjects. CFR was determined as the ratio of global LV perfusion before and after pharmacologic stress. RESULTS: At rest, global LV perfusion was not significantly different in patients with CHF and the control group. After administration of dipyridamole, global LV perfusion and CFR were significantly lower in patients with CHF compared to the control group(P<0.001). An inverse correlation was observed between CFR and the number of infarcted and/or ischemic segments (P=0.083, P=0.037). CONCLUSION: A combined cardiac MRI protocol including function and perfusion techniques together with VEC MRI can be used to evaluate global LV perfusion and CFR in patients with CHF. Global LV perfusion and CFR measurements may have potential in the monitoring of CHF. Impaired CFR may contribute to progressive decline in LV function in patients with CHF.

Prevalence and risk factors for gall bladder polyps.

OBJECTIVE: Polyps of gallbladder are tumour-like lesions of this organ. Little has been known about factors associated with the occurrence of gallbladder polyps. We aimed to examine prevalence and factors associated with gallbladder polyps in our region. DESIGN: Prospective clinical study. SETTING: Kocaeli University Teaching Hospital. SUBJECTS: Four hundred and thirty two patients were enrolled to the study. INTERVENTIONS: Subjects were screened for the presence of any pathological condition for gallbladder by upper abdominal ultrasonography completed a questionnaire, and underwent a physical examination and blood chemistry tests. RESULTS: Family history of gastrointestinal disease, gallbladder disease and any neoplastic disease and abnormality in HDL-cholesterol levels had most consistent association at univariate analysis. Multivariate logistic regression analysis showed that family history of any gastrointestinal disease and abnormalities of HDL-cholesterol levels were significant. CONCLUSIONS: Our findings suggest the formation of gallbladder polyps is associated with fat metabolism. Other unknown factors may also influence the formation of this lesion. Relationship between gallbladder polyps and family history of some diseases suggests us to perform some genetic studies.

Massive intracerebral haemorrage due to developmental venous anomaly.

In cases of intracerebral haematoma associated with developmental venous anomalies (DVAs), there is usually an associated cavernoma, which is thought to be the source of haemorrhage. Only a few cases have been reported in the literature where an intracerebral haemotoma has been caused by a DVA without an associated cavernoma. In this report we describe a case with a massive haematoma due to venous angioma alone.

Diffusion weighted MRI of primary pituitary abscess. Case report.

Pituitary abscess is a rarely seen entity that can lead to serious neuroendocrine disorders or even be fatal if not diagnosed or treated correctly. Preoperative diagnosis plays an important role in planning the operation and treatment strategies. This report describes the diagnostic value of diffusion-weighted imaging (DWI) in addition to conventional magnetic resonance imaging (MRI) of primary pituitary abscess formation caused by Klebsiella ozaenea in a 33-year-old man.

MR Spectroscopy Findings in Lhermitte-Duclos Disease. A Case Report.

Lhermitte-Duclos disease (LDD) is a rare hamartomatous focal or diffuse enlargement of the cerebellum with unclear etiology. The characteristic magnetic resonance imaging (MRI) appearance consists of a non-enhancing mass in the cerebellar hemisphere with a striated pattern. The slow growing behavior of this benign lesion is characteristic. In a few reports on magnetic resonance spectroscopy (MRS) findings in LDD, a decreased level of N-acetyl aspartate, increased level of lactate and near normal level of choline were described. The information obtained from MRS is useful to confirm the relatively benign hamartomatous nature of the lesion. This paper reports a case of LDD and describes the MRI and MRS findings.

Diffusion-weighted MRI of van der knaap leukoencephalopathy. A case report.

An eight-month-old girl was admitted with signs and symptoms of deterioration of motor functions. Cranial MRI demonstrated widespread bilateral increased signal of cerebral white matter on T2-weighted images accompanying bilateral cyst-like structures at the subcortical location of frontal and parietal lobes and bilateral cysts at the temporal lobes. On diffusion MRI, increased diffusion with high ADC values were detected. The patient was diagnosed as an MLC subtype of Van Der Knaap Leukoencephalopathy with clinical and radiological findings. Cranial MRI and diffusion MRI findings are discussed in this paper.

Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome.

Naxos disease is an autosomal recessively inherited familial syndrome characterized by woolly hair, palmoplantar keratoderma and a cell adhesion cardiomyopathy, especially arrhythmogenic right ventricular dysplasia (ARVD). Carvajal syndrome is a variant of Naxos disease in which curly or woolly hair, biventricular--predominantly left ventricular involvement were seen. Mutations in genes encoding the cell adhesion proteins like plakoglobin and desmoplakin were related with these syndromes. We report a 17-year-old boy and his family findings with curly hair, palmoplantar hyperkeratosis, ARVD and left ventricular involvement. The family was of Arabic origin, and a third-degree consanguinity was reported between the parents. They are from east part of Turkey and there were no relatives from Cyclades Island (Greece). Patient's younger brother had ARVD without cutaneous manifestations of the syndrome and his grand father had mild ARVD, curly hair and palmoplantar hyperkeratosis.

Diffusion magnetic resonance imaging may provide prognostic information in osmotic demyelination syndrome: report of a case.

Hyponatremia and its rapid correction may cause osmotic demyelination syndrome (ODS) with damage to the pontine and extrapontine areas of the brain. The damage may become persistent or may regress and disappear during follow-up. We describe the case of a 35-year-old woman with chronic renal failure who was admitted to the emergency department with profound hyponatremia which was corrected rapidly after hemodialysis treatment. During follow-up, she developed quadriparesis and dysartria. Magnetic resonance imaging (MRI) demonstrated abnormalities characteristic of ODS in the pons as well as the basal ganglia with increased signal intensity on T2 and diffusion-weighted (DW) MRI and low apparent diffusion coefficient (ADC) values. After the sixth day, her clinical status improved progressively. Control MRI revealed rapid normalization of the ADC values during the first week and month parallel to the clinical improvement. However, the hyperintensities on T2-weighted images persisted. Four months later the MRI findings were completely normal. The close relationship between the ADC abnormality and the clinical status suggests that DW-MRI may be useful in predicting the prognosis of ODS.