Aim: We aimed to evaluate the patients who were followed up in our clinic with a diagnosis of cerebral sinovenous thrombosis in terms of age, sex, clinical findings, etiology, thrombophilic factors, imaging findings, treatment and prognosis. Material and Methods:The files of 11 patients who were followed up in our pediatric neurology clinic with a diagnosis of cerebral thrombosis between 1 December 2010 and 31 December 2014 were retrospectively analyzed. Results:Seven of 11 patients were male (63.6%). The median age was 14 years (2-17 years). Six (54%) of the patients presented with a complaint of headache. Other complaints at presentation included diplopia (n:3), weakness and difficulty in speaking (n:1) and seizure (n:1). A diagnosis of pseudotumor cerebri was made in eight of the patients (72.7%). In the etiology, mastoiditis was found in three patients, mastoiditis and meningitis were found in combination in one patient, Behçet's disease was found in three patients and head trauma was found in one patient. In 3 patients, only prothrombotic genetic risk factors were present; one patient had deficiency of protein C and S, one patient had deficiency of antithrombin III and one patient had hyperhomosisteinemia in association with vitamin B12 deficiency. 1A homozygous MTFHR A1298C mutation was detected in the patient who had mastoiditis and meningitis and protein S deficiency and lupus anticoagulant were found in another patient who had mastoiditis. All patients received anticoagulant treatment and all patients recovered without neurological sequelae except one.Conclusions: Cerebral sinovenous thrombosis should be considered in patients who present with headache and focal neurological deficits. Appropriate utilization of imaging studies is necessary for the diagnosis. Detailed ear, nose and throat examination should be performed to detect mastoiditis. It is recommended that genetic risk factors should be investigated, because hereditary thrombophilis factors may have a role in children. Behçet's disease which is relatively common in our country should be considered in differential diagnosis. (Turk Pediatri Ars 2016; 51: 87-93)
Context Developmental disorders of the pituitary gland leading to congenital hypopituitarism can either be isolated or associated with extra-pituitary abnormalities (syndromic hypopituitarism). A large number of syndromic hypopituitarism cases are linked to mutations in transcription factors. The Forkhead box A2 (FOXA2) is a transcription factor that plays a key role in the central nervous system, foregut and pancreatic development. Objective To characterize two patients with syndromic hypopituitarism due to FOXA2 gene defects. Results We report a novel heterozygous nonsense c.616C>T (p.Q206X) variant, which leads to a truncated protein that lacks part of the DNA-binding domain of FOXA2, resulting in impaired transcriptional activation of the GLUT2-luciferase reporter. The patient is the sixth patient described in the literature with a FOXA2 mutation, and the first patient exhibiting pancreatic hypoplasia. We also report a second patient with a novel de novo 8.53 megabase (Mb) deletion of 20p11.2 that encompasses FOXA2, who developed diabetes mellitus that responded to sulfonylurea treatment. Conclusions Our two cases broaden the molecular and clinical spectrum of FOXA2-related disease, reporting the first nonsense mutation and the first case of pancreatic dysgenesis.
DOCK7 (MIM:615730) plays a key role in neurogenesis by promoting the differentiation and transition of radial glial cells to basal progenitors and neurons [1]. DOCK7 also regulates tangential neuroblast migration in the postnatal mouse forebrain [2]. Recently, a new phenotype of early infantile epileptic encephalopathies (EIEE23, MIM: 615859) was reported in 3 girls from 2 families with 4 different compound heterozygous truncating mutations in DOCK7 [3]. Here, we report a boy with infantile onset well-controlled non-encephalopathic epilepsy and severe neurodevelopmental delay associated with a novel homozygous truncating mutation in DOCK7.
AimVarious studies have been conducted for determining the most optimal method for the early diagnosis of local recurrent or distant metastatic thyroid cancers. The aim of this study was to evaluate the clinical utility of technetium-99m (Tc-99m)-labeled octreotide derivatives in the detection of recurrence or distant metastases in medullary thyroid cancer patients and to compare the lesions with those detected using 18F-fluorodeoxyglucose (18F-FDG)-PET and Tc-99m MIBI studies in the same patient group.Patients and methodsSixteen medullary thyroid cancer patients [two male and 14 female; mean age 52.0±14.1 years (range 13–72 years)] were included in this study. All patients underwent a whole-body scan 1 and 4 h after injection with octreotide derivatives and single photon emission computed tomography images were taken of the sites suspicious for metastasis. The lesions seen in Tc-99m HYNIC octreotide studies were compared with those seen in 18F-FDG-PET and Tc-99m MIBI studies.ResultsAmong the Tc-99m-labeled octreotide scintigraphy studies, nine were evaluated as true positive (56.2%) and one was evaluated as false positive (6.2%); six were false negative (37.5%). In 16 patients, the total number of lesions seen on octreotide scintigraphy was 21. Thirteen of the 16 patients underwent 18F-FDG-PET imaging. Of the 13 patients studied, 10 showed true-positive (76.9%) and three showed false-negative (23.1%) results. The total number of lesions seen on 18F-FDG-PET was 23. The Tc-99m MIBI study yielded positive results in seven of 16 patients (43.7%) and negative results in nine patients (56.3%). The total number of lesions on Tc-99m MIBI was 12.ConclusionThe Tc-99m-labeled somatostatin receptor scintigraphy analogs HYNIC-tyrosine octreotide and HYNIC-TATE are useful imaging alternatives in somatostatin receptor-expressing thyroid cancers. Radiolabeling using these analogs is easy and they are readily available for routine use.
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