Alterations in transcranial sonography among Huntington's disease patients with psychiatric symptoms.

Transcranial sonography (TCS) is a diagnostic tool in mood and movement disorders. Alterations within the raphe mesencephalic nucleus in the brain have been reported not only in patients with major depression but in patients with depressive symptoms accompanying several neurodegenerative disorders. The aim of the study was to assess the echogenicity of the nucleus raphe and other basal ganglia in patients with Huntington's disease (HD). TCS was performed in 127 HD patients participating in observational studies (Registry/Enroll-HD) in the Institute of Psychiatry and Neurology (Warsaw, Poland). Raphe hypoechogenicity was found in 78% of HD patients with current symptoms of depression (according to DSM-IV criteria), 57% of patients with a previous history of depression, and 56.8% patients who lacked signs or history of depression. Patients with hypoechogenic raphe reported significantly higher depression as measured on the BDI (15.6 ± 1.7) as compared to patients with normal echogenicity (9.5 ± 1.2), (p = 0.023). The diameter of the third ventricle was negatively correlated with Mini-Mental State Examination (MMSE) (rho - 0.37) and total functional capacity (TFC) scores (rho - 0.26). Hyperechogenic substantia nigra was visualized in 66,4% patients with HD and the degree of hyperechogenicity was correlated with the total motor score (TMS) (rho - 0.38). Changes in echogenicity of the basal ganglia are related to both depressive and motor symptoms among patients with HD.

Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies.

Kufs' disease or NCL4 (neuronal ceroid lipofuscinosis type 4) is a rare and poorly characterized, adult-onset form of NCL. The mutation in gene CLN, underlying Kufs' disease, still remains unknown. The diagnosis of this disease is difficult because it is based only on clinical and ultrastructural examinations. We report the case of a 45-year-old woman referred to the Neurological Department with suspicion of Creutzfeldt-Jakob disease (CJD). CJD as well as infectious, autoimmune and some lysosomal diseases were excluded. Since clinical symptoms, i.e. psychotic, auditory and visual hallucinations as well as behavioural disturbances, still suggested metabolic or neurodegenerative disease, a skin and muscle biopsy was performed. On ultrastructural examination the muscle biopsy revealed the subsarcolemmal accumulation of lipofuscin, lipofuscin-like and granular osmiophilic deposits (GRODs). The most unique fingerprint deposits (FP) and curvilinear profiles (CP) for diagnosis of Kufs' disease were located in vascular smooth muscle cells (VSMCs). In these cells lipofuscin-like deposits and GRODs were also visible. The fact that FP and CP were found exclusively in VSMCs jointly with clinical and laboratory data allows us to diagnose Kufs' disease in our patient.

[Aortic dissection and carotid arteries dissection complicated by ischaemic stroke in a patient with cystic medial necrosis]. / Rozwarstwienie aorty oraz tetnic szyjnych wspólnych i wewnetrznych powiklane udarem niedokrwiennym mózgu u osoby ze zwyrodnieniem torbielowatym blony srodkowej.

We present a case of a 62-year-old man who was admitted in grave condition to the Institute of Psychiatry and Neurology because of ischaemic stroke. Neurological examination re- vealed left-sided pyramidal hemiparesis. Computed tomography (CT) showed the ischaemic focus in the right cerebral hemisphere. Clinical examination and ultrasound examination revealed dissection of the aortic arch and extracranial arteries. Aortic dissection was confirmed in echocardiography and chest CT. The patient remained comatose and died after 7 days. Post-mortem examination identified dissection of the aortic arch, brachiocephalic truncus, common carotid arteries, internal carotid arteries and dissection extending along the whole aorta into both iliac arteries. This examination also showed a massive haemopericardium and a scar in the heart muscle after myocardial infarction. Microscopic examination identified cystic medial necrosis. This type of dissection is very rarely described.