Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known to be caused by biallelic, pathogenic variants in at least five genes although additional genetic loci may exist. The RAB3GAP1 c.748 + 1G>A, p.Asp250CysfsTer24 founder variant has been described in families of Turkish ancestry. We report the clinical and molecular findings in three, unrelated, Turkish families with WARBM. A novel c.974-2A>G variant causing WARBM in three siblings of Turkish descent was found. Functional studies of the novel, c.2606 + 1G>A variant in patients' mRNA revealed skipping of exon 22 which results in a premature stop codon in exon 23. However, the clinical consequences of this variant are blended given that the individual also had a maternally inherited chromosome 3q29 microduplication.

Comparison of brain F-18 FDG PET/MRI with PET/CT imaging in pediatric patients.

BACKGROUND: Standardized uptake values (SUVs) are important indexes for evaluating the accuracy of disease diagnoses achieved via fluoro-18 deoxyglucose (F-18 FDG) positron emission tomography/computed tomography (PET/CT) and positron emission tomography/magnetic resonance imaging (PET/MRI). The purpose of this study is to describe normal cerebral FDG uptake in the pediatric population and compare SUVmax/mean results for brain images obtained from PET/CT and PET/MRI in neurologically healthy pediatric examinees. METHODS: This study included 20 patients who were < 18 years of age and were without intracranial malignancy and/or brain disorders. Patients underwent either PET/CT imaging (n = 10) or PET/MRI imaging (n = 10) after 70-80 min of F-18 FDG injection. The SUVmax and SUVmean for various brain regions were calculated and compared between sides and imaging modalities using with appropriate statistical tests. RESULTS: The median SUVmax/SUVmean values of the right-sided frontal, parietal, temporal, and occipital lobes were 8.63/ 6.18, 8.85 / 6.97, 6.88 / 4.99, and 11.06 / 7.02 in PET/CT, respectively, and 11.45 / 8.59, 10.16 / 8.47, 8.82 / 6.6, and 11.71 / 8.25 in PET/MRI, respectively. The median SUVmax/SUVmean values of the left-sided frontal, parietal, temporal, and occipital lobes were 9.05 / 6.86, 8.03 / 6.62, 6.49 / 4.77, and 10.6 / 7.73 in PET/CT, respectively, and 10.7 / 8.16, 11.06 / 7.88, 8.13 / 6.09, and 10.96 / 9.22 in PET/MRI, respectively. CONCLUSIONS: These results showed that there was no statistically significant difference in SUVs values between the two brain imaging modalities except from SUVmax value of left-sided parietal lobe and no asymmetric radiopharmaceutical uptake between the left and right brain regions or cerebellums in each modality, suggested that in brain imaging, PET/MRI can be used reliably instead of PET/CT.

Active Giant Cell Vasculitis Diagnosis with 68Ga PSMA PET/CT Imaging.

Vasculitis is a multisystem disease characterized by inflammation with infiltration of leukocytes into the blood vessels. Giant cell arteritis (GCA) is the most common form of vasculitis that mostly affects medium- and large-sized arteries. 18Fluorine-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) is increasingly used to diagnose inflammation of large arteries in GCA. Galium-68 prostate-specific membrane antigen (PSMA) PET/CT has a vital role in the assessment of patients with prostate cancer for recurrence and metastasis of the disease. Various benign and non-prostate malignant conditions may give rise to increased PSMA uptake. Herein, we demonstrate that PSMA uptake can be seen in GCA.

Clinical value of technetium-99m-labeled octreotide scintigraphy in local recurrent or metastatic medullary thyroid cancers: a comparison of lesions with 18F-FDG-PET and MIBI images.

AIM: Various 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 METHODS: Sixteen 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. RESULTS: Among 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. CONCLUSION: The 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.

Tc 99m bone scan and fluorodeoxyglucose positron emission tomography in evaluation of disseminated langerhans cell histiocytosis.

Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder in which pathological langerhans cells accumulate in a variety of organs. Manifestations may include lung infiltrates, lymph node involvements, bone lesions, hepatic, hematopoietic and endocrine dysfunctions. In this case report we present fluorine-18 positron emission tomography (F-18 PET/CT) and bone scintigraphy findings of a 18-year-old male patient with disseminated LCH, mimicking multiple hypermetabolic metastatic lesions. Clinicians should be aware that LCH infiltrations can be seen as intense uptake and to differentiate infiltrations from other metastatic intense uptake with fluorodeoxyglucose PET/CT and bone scintigraphy, clinical and laboratory findings should be kept in mind.