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.

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.

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.