Late-onset Niemann-Pick disease type C overlapping with frontotemporal dementia syndromes: a case report.

The diagnosis of adult-onset Niemann-Pick disease type C (NPC) could be difficult because its primary symptoms [dementia and vertical supranuclear gaze palsy (VSGP)] are mainly seen in neurodegenerative dementias and progressive supranuclear palsy (PSP). Our patient with dementia and asymmetric parkinsonism resembled corticobasal syndrome and after the appearance of VSGP, the criteria of PSP were fulfilled too. Cerebellar symptoms appeared late during the course of the disease, leading to the diagnosis of NPC at the age of 59 years.

[Meningovascular neurosyphilis as the cause of ischemic cerebrovascular disease in a young man]. / Meningovascularis neurosyphilis miatti fiatalkori ischaemiás cerebrovascularis betegség.

Authors report a case of a 35-year-old male with right-sided mild paresis, incontinence, dysexecutive syndrome, short-term memory loss and behavioral changes. Bilateral cerebral infarcts in the region of the caudate nuclei and the adjacent white matter were proved by brain MRI and multiple stenoses of the branches of Willis-circle were confirmed by MR angiography. Elevated protein level and pleocytosis were found in the cerebrospinal fluid with intrathecal IgG synthesis. Serum rapid plasma reagin, Treponema pallidum Particle Agglutination test, Treponema pallidum ELISA, liquor Venereal Disease Research Laboratory tests were positive. Meningovascular neurosyphilis was diagnosed. 24M U/day intravenous penicillin-G treatment was given for 14 days. The patient has vascular dementia due to the bilateral strategic infarcts disconnecting the prefrontal circuits; his symptoms are similar to general paresis. Laboratory and radiologic improvement was observed. Still, the patient have severe residual cognitive decline.

[Prognosis and classification of hypertensive striatocapsular haemorrhages]. / A hypertoniás eredetu striatocapsularis agyvérzések felosztása és prognózisa.

INTRODUCTION: Nontraumatic intracerebral haemorrhage accounts for 10 to 15% of all cases of stroke. PATIENTS AND METHOD: In our study hypertensive striatocapsular haemorrhages were divided into six types on the basis of arterial territories: posterolateral, lateral, posteromedial, middle, anterior and massive (where the origin of the hemorrhage can not be defined due to the extensive damage of the striatocapsular region) type. We analysed laboratory data, clinical presentations and risk factors as alcoholism, smoking and hypertension of 111 cases. The size of the hematoma, midline shift and severity of ventricular propagation were measured on the acute CT-scan. The effect on the 30-day clinical outcome of these parameters were examined. RESULTS AND CONCLUSION: According to our results, the most important risk factor of hypertensive intracerebral haemorrhage was chronic alcoholism. Blood cholesterol, triglyceride levels and coagulation status had no effect on the prognosis, but high blood glucose levels significantly worsen the clinical outcome. In our study, lateral striatocapsular haemorrhage was the most common while middle one was the least common type. The overall mortality is 42%, but differs by the type. The 30-day outcome significantly depends on the type of the haemorrhage, the initial level of consciousness, the size of the haematoma, the severity of ventricular propagation, the midline shift and the blood glucose levels. The clinical outcome proved to be the best in the anterior type, good in the posteromedial and lateral types. The prognosis of the massive type is poor. In our study, the classes and the mortality of the striatocapsular haemorrhages was different from the literature data. The higher mortality in our cohort could be due to the longer follow-up and the severe accompanying diseases of our patients.

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.

Type IV collagen α1 and α2 chains form heterotrimers that constitute an essential component of basement membranes. Mutations in COL4A1, encoding the α1 chain, cause a multisystem disease with prominent cerebrovascular manifestations, including porencephaly, bleeding-prone cerebral small vessel disease, and intracranial aneurysms. Mutations in COL4A2 have only been reported in a few porencephaly families so far. Herein, we report on a young adult patient with recurrent intracerebral hemorrhage, leukoencephalopathy, intracranial aneurysms, nephropathy, and myopathy associated with a novel COL4A2 mutation. We extensively investigated a 29-year-old male patient with recurrent deep intracerebral hemorrhages causing mild motor and sensory hemisyndromes. Brain MRI showed deep intracerebral hemorrhages of different age, diffuse leukoencephalopathy, multiple cerebral microbleeds and small aneurysms of the carotid siphon bilaterally. Laboratory work-up revealed significant microscopic hematuria and elevation of creatine-kinase. Genetic testing found a de novo glycine mutation within the COL4A2 triple helical domain. The presented case completes the spectrum of cerebral and systemic manifestations of COL4A2 mutations that appears to be very similar to that in COL4A1 mutations. Therefore, we emphasize the importance of screening both COL4A1 and COL4A2 in patients showing recurrent intracerebral hemorrhage of unknown etiology, particularly if associated with leukoencephalopathy.