Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.

SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) was performed. Brain magnetic resonance imaging (MRI), including DTI, and single-photon emission computed tomography (SPECT) were used to study the primarily affected tracts and regions. WES revealed the previously reported heterozygous truncating mutation in ubiquitin ligase domain of STUB1 (ENST00000219548:c.823_824delCT, ENSP00000219548:p.L275Dfs*16) leading to a frameshift. Patient's cognitive status was compatible with CCAS. Novel clinical features different from the original report include later onset chorea, dystonia, general slowness of movements, apraxia, and palilalia, some of which have been recently reported in two families with different STUB1 mutations. CCAS is a prominent and often early feature of SCA48 which may be followed years after the onset of the disease by other complex neurological signs and symptoms. DTI may be helpful for demonstrating the cerebello-frontal tracts, involved in CCAS-associated SCA48, the differential diagnosis of which may be challenging especially in its early years.

The role of positron emission tomography/computed tomography in the diagnosis of pleural diseases.

BACKGROUND: The aim of the study was to assess the role of F-18 fluoro-2-D-deoxyglucose positron emission tomography ( (18)FDG-PET)/computed tomography (CT) in patients with undiagnosed pleural diseases and to compare the findings with those of invasive diagnostic procedures. METHODS: The study included 83 patients with pleural lesions (63 with pleural effusion; 20 with pleural thickening) on CT scan performed between November 2005 and December 2007. The study group consisted of 63 males and 20 females; their median age was 47 years. PET-CT scan was performed for all patients before surgery. A maximum standard uptake value greater than 3.0 was accepted as positive for malignancy. For histopathological diagnosis, video-assisted thoracoscopic surgery was performed in 76 patients and a mini-thoracotomy was performed for the remaining 7 patients. RESULTS: Postoperative histopathological examination revealed malignancy in 44 cases, 25 of which were malignant mesothelioma; the remaining 39 cases were benign. There were no false negative results, but two false positive results (tuberculosis). PET-CT scanning had 100 % sensitivity, 94.8 % specificity and 97.5 % accuracy. CONCLUSION: Our study suggests that PET-CT may be an effective tool for the differentiation of benign and malignant pleural diseases. We believe that PET/CT may prevent redundant surgical procedures in young patients who are SUVmax negative.

A case of Noonan syndrome with pulmonary and abdominal lymphangiectasia.

Noonan syndrome is characterised by a Turner-like phenotype and a normal karyotype. Although it is reported to be associated with abnormalities of the lymphatic system, involvement of the pulmonary lymphatics is rare. We present a case of Noonan syndrome where a whole body scintigraphy revealed lymphangiectasia of the lower extremities, abdomen and lungs.