Tansel Ansal Balci

Fragile X Syndrome and Cerebral Perfusion Abnormalities: Single-Photon Emission Computed Tomographic Study

Fragile X syndrome is an inherited disorder caused by a defective gene on the X chromosome. It is associated with developmental or behavioral symptoms and various degrees of mental retardation. Morphologic abnormalities and altered perfusion of various brain areas can underlie these functional disturbances. The aim of this study was to investigate the cerebral perfusion state in patients with fragile X syndrome using single-photon emission computed tomography (SPECT). Structural and functional assessment was also performed by magnetic resonance imaging (MRI) and electroencephalography (EEG). Eight boys with cytogenetically confirmed fragile X syndrome (mean age 8.8 ± 4.4 years, range 5–18 years), were included. All patients had mental retardation, with a mean IQ of 58.9 ± 8.8 (range 40–68), and additional neurobehavioral symptoms. SPECT revealed cerebral perfusion abnormalities in six patients (75%), most commonly in the frontoparietotemporal area and prominent in the right hemisphere. The SPECT and EEG findings were concordant: hypoperfused areas in SPECT corresponded to regions of persistent slow-wave paroxysms on EEG. On the other hand, cranial MRI was abnormal qualitatively only in two patients (25%) showing cerebellar and vermal hypoplasia and cerebral hemispheric asymmetry. Our results indicate that cerebral perfusion abnormalities, which are correlated with electrophysiologic findings but not necessarily with anatomic abnormalities, can underlie the pathogenesis of the clinical findings observed in fragile X syndrome.

CORRELATIVE STUDY OF THE COGNITIVE IMPAIRMENT, REGIONAL CEREBRAL BLOOD FLOW, AND ELECTROENCEPHALOGRAM ABNORMALITIES IN CHILDREN WITH DOWN’S SYNDROME

The aim of this study was to investigate possible correlations of the cognitive impairment with abnormalities of regional cerebral blood flow and electroencephalogram in children with (Downs Syndrome) DS. Nine patients with DS were evaluated by single photon emission computed tomography (SPECT) in combination with clinical findings, electroencephalography (EEG), and magnetic resonance imaging (MRI). In cases with IQs below 40, there were one or more findings of abnormal EEG/MRI and brain perfusion SPECT. In 6 cases (66.7%) EEG findings were normal, but 3 (33.3%) had abnormal EEG findings. Perfusion abnormalities were most pronounced in the fronto-parieto-temporal region in the form of hypoperfusion (n = 5) and in the right hemisphere (n = 5) than the left hemisphere (n = 1). These findings suggest that the children with DS had varying levels of structural, perfusion, and electrophysiological abnormalities in the brain and these abnormalities were reflected by measurable alterations of the cognitive functions.

Incidental DTPA and DMSA uptake during renal scanning in unknown bone metastases

We report a patient with DTPA and DMSA uptake on unsuspected bone metastases. He had severe pain due to grade 3 hydronephrosis of his left kidney. When Tc-99m DTPA and DMSA renal scanning were performed for preoperative evaluation, abnormal radiopharmaceutical uptake on the iliac area was noted. Pancreatic adenocarcinoma metastases to bone were subsequently defined. This patient is a very demonstrative case in respect of having all DTPA, DMSA and HDP uptakes in bone metastases. The type of the tumor has to be added to the list of extrarenal uptake of DTPA and DMSA as a rare cause.

Bone Scan or 18 F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography; Which Modality Better Shows Bone Metastases of Breast Cancer?

Background: In this multicenter study, we aimed to compare concurrent 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) and bone scan results of breast cancer patient. Patients and Methods: 162 patients with breast cancer (158 female, 4 male; mean age 50.6 years) were included in the study. FDG PET/CT examination was performed in all patients, and concurrent bone scintigraphy in 68 patients. The results of FDG PET/CT and bone scan were compared. Results: 132 of the 162 patients were operated on because of breast cancer. 89 patients had metastasis, and 4 had recurrent disease according to FDG PET/ CT results. Metastatic sites in order of frequency were lymph nodes, bone, lung, liver, adrenal gland, local skin or muscle, brain, and peritoneum (peritonitis carcinomatosa). The sensitivity, specificity, accuracy, and negative and positive predictive value of bone scintigraphy versus FDG PET/CT were 96 vs. 100%, 100 vs. 98%, 100 vs. 83%, 100 vs. 100%, and 90 vs.100%, respectively. Conclusion: Although the 2 modalities were in concordance with each other, in 5 (21%) cases, FDG PET/CT could not show bone metastasis which were detected on bone scintigraphy. Hence, bone scintigraphy was superior to FDG PET/CT in the determination of bone metastasis derived from breast cancer. However, FDG PET/CT should be considered for soft tissue metastasis.

Technetium Tc 99m Sulphur Colloid Seminal Vesicle Scintigraphy: A Novel Approach for the Diagnosis of the Ejaculatory Duct Obstruction

OBJECTIVES To define a novel technique in the diagnosis of partial and complete ejaculatory duct obstruction (EDO). METHODS Twenty men with suspected EDO were initially evaluated by transrectal ultrasound (TRUS). Subsequently, all patients underwent TRUS-guided seminal vesicle (SV) scintigraphy. Technetium Tc 99m sulphur colloid solution was injected into each SV under TRUS guidance and patients were immediately evaluated by scintigraphy. After patients ejaculated scintigraphy was repeated. The difference between 2 measurements in respect to technetium Tc 99m count was used to measure the percentage of emptying. RESULTS In the first group, TRUS revealed 11 patients with findings suggestive of EDO, whereas no abnormality was found in 9. Scintigraphic measurement in first group of patients showed a mean emptying ratio for the right and left SVs of 16.6% +/- 2.22 (2.2 to 30.6) and 17.1% +/- 2.34 (1.4 to 32.5), respectively. The mean percent of emptied technetium Tc 99m from right and left SVs in patients with no pathologic findings on TRUS was 30.9% +/- 4.3 (10.1 to 44.2) and 33.9% +/- 5.81 (13.6 to 68.1), respectively. Statistically significant difference was determined between 2 groups (P = 0.037). Initially, TRUS examination revealed no pathologic findings in 3 patients; however, SV scintigraphy showed less than 30% emptying and revealed an additional 33% of patients to be obstructed in our series. CONCLUSIONS TRUS, the static anatomic imaging modality, may not be sufficient to distinguish functional from complete obstruction. Seminal vesicle scintigraphy is unique that incorporates physiologic aspect of ejaculation into a diagnostic intervention, of which we believe that is especially important in diagnosis of functional EDO.

Insufficiency of bone scintigraphy in vertebral lesions of langerhans cell histiocytosis compared to f-18 fluorodeoxyglucose positron emission tomography/computed tomography and diagnostic computed tomography.

Langerhans cell histiocytosis (LCH) is a benign disorder related to the histiocytes which can infiltrate bone tissue. The most effective method for demonstrating severity of this disease is PET/CT and bone scintigraphy might show bone lesions. We present a seventeen year old male patient with disseminated LCH presented with exophtalmos and having multiple vertebral lesions which were identified by F-18 FDG PET/CT scan and diagnostic CT but not in the bone scintigraphy.

Isolated Left Pulmonary Artery Agenesis: A Case Report

Unilateral pulmonary artery agenesis without any cardiovascular malformation is a rare anomaly. We present the imaging findings of a patient who was diagnosed as isolated left pulmonary artery agenesis. A 27-year-old female patient was admitted to our hospital due to dyspnea during exercise for five years. Chest X-ray revealed minimally small left pulmonary hilum and left lung. She was admitted to our clinic with the suspicion of pulmonary artery pathology. Absent perfusion of the left lung with normal ventilation was visualized on scintigraphy. MDCT angiography of pulmonary arteries showed absent left main pulmonary artery with systemic collaterals around left hemithorax. Pulmonary artery agenesis can be asymptomatic and isolated until adulthood. Both scintigraphy and CT angiography images of pulmonary artery agenesis of a patient are rare in the literature. Pulmonary ventilation-perfusion scintigraphy can be used not only for pulmonary embolism but also pathologies involving pulmonary artery and its branches. Conflict of interest:None declared.

Cortical Visual Impairment Secondary to Hypoglycemia

Cortical visual impairment (CVI) most commonly occurs in children after hypoxic insults but may also occur as a sequel of meningitis, encephalitis, head trauma, and hydrocephalus. CVI secondary to hypoglycemia is rarely encountered. A 4-year-old girl was admitted to hospital with a history of bilateral visual impairment. She had several severe hypoglycemic attacks lasting a week in the neonatal period. Bilateral occipital gliotic lesions were defined on magnetic resonance imaging (MR). [99mTc]-hexamethyl propylene amine oxime (HMPAO) brain single-photon emission computerized tomography (SPECT) was performed to determine the cerebral blood flow (CBF). SPECT images showed an extended hypoperfusion area in the right parieto-temporal region with marked non-perfusion areas in bilateral occipital cortices. It should be noted that hypoglycemia has devastating effects on cerebral tissues including optical areas and thus resulting in CVI. We would like to emphasize the importance of early diagnosis and prompt treatment.

Bone mineral densitometry findings of children with newly diagnosed celiac disease.

Objective: The effect of Celiac Disease (CD) on children’s bone is the decrease in bone mineral density (BMD). Osteoporosis is a consequence of this decrease and usually manifests in adult ages. Studies in CD patients generally show that bone density of these patients can be different at the same ages for the same duration of disease. The aim of this study is to investigate the relationship between age and bone mineral density of CD patients at first diagnosis. Material and Methods: Ninety one patients (M/F: 36/55; age range: 3-16; mean age: 9.6±3.5) with diagnosis of CD were included in the study. BMD survey from L1-L4 lumbar spine and total hip of the patients was evaluated at presentation. We evaluated the patients in 3 groups according to their ages: Group 1: pre-school (3-7 years old), Group 2: elementary school (8-11 years old) and Group 3: adolescent (12-16 years old). Results were compared using Student’s t test and correlation analysis. Results: The mean disease duration of the patients was 16.4±16.3 months. Mean height and weight of the patients were 124.8±17.9 cm and 27±9.3 kg, respectively and height and weight of 37 patients were in ≤ 3. percentile according to age. The BMD values of both lumbar spine and total hip and Z-scores of lumbar region were in mild correlation with age (r>0.5). There was significant difference between mean ages of patients with low bone mass for chronological age and normal bone densitometry values (p<0.05). There were 27, 36 and 28 patients in Group 1, Group 2 and Group 3, respectively. The difference between mean BMD values of these groups were statistically significant (p<0.05). The mean values of lumbar Z- scores of patients were -1.08±1.27, -1.42±1, -1.86±1.14, respectively for these three groups. Conclusion: Bone mineral densities of CD patients in childhood were lower in elder children at the time of diagnosis. This confirms the opinion that the diagnosis at earlier age results better treatment chance before bone mineral loss appears in CD patients. Conflict of interest:None declared.

Abdominal lymph node metastasis in patients with non-small-cell lung cancer as shown by PET/CT.

Purpose The aim of this study is to investigate the frequency and the spread of abdominal lymph node metastasis in patients with non-small-cell lung cancer (NSCLC) by 18F-FDG PET/CT. Patients and Methods Retrospective evaluation of the 18F-FDG PET/CT examinations of 1191 patients diagnosed with NSCLC was performed. The metastatic abdominal lymph nodes of the patients were classified as inside the routine imaging field (covering the field of chest CT including adrenal glands) and outside the field. Results Seventy-four patients (6 F, 68 M; mean: 61 ± 11 years old) among 1191 patients (6%) were identified to have abdominal lymph node metastases. These abdominal lymph node metastasis changed management in 10 out of 74 patients (14%), and there were lymph node metastases outside the routine conventional imaging field in 43 (58%) patients. Conclusion 18F-FDG PET/CT provided identification of the distant metastatic lymph nodes out of conventional imaging field in more than half of NSCLC patients with abdominal metastasis which changed patient management in 14% of the patients due to abdominal lymph node metastasis outside the routine imaging field. This study shows the necessity of imaging NSCLC patients with an imaging protocol with larger imaging field like PET/CT.