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.

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.

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A 35 éves férfi beteget jobb oldali enyhe hemiparesis, incontinentia, prefrontális tünetek, rövid távú memóriazavar és magatartás-változás miatt kezeltük. Koponya-MR és -MR-angiográfi ás vizsgálattal mindkét nucleus caudatusban és a környező fehérállományban látszott infarktusnak megfelelő jelzavar, illetve többszörös szűkület a Willis-kör erein. A liquorban emelkedett összfehérjeszint és pleiocytosis mellett intrathecalis IgG-szintézist igazoltunk. Szérum rapid plazma reagin, Treponema-ellenanyagtiter-meghatározás, Treponema pallidum ELISA, liquor venereal disease research laboratory (VDRL) tesztek pozitívak voltak. Mindezek alapján meningovascularis neurosyphilist igazoltunk. 24 ME intravénás penicillin-G-vel kezeltük 14 napig; szerológiai és radiológiai javulás mutatkozott. A kétoldali prefrontális körök kapcsolatainak károsodása, stratégiai infarktusok miatt a tünettan vascularis dementiának felel meg, paralysis progressivát utánozva; a kezelést követően a kognitív tünetek is csökkentek. Orv. Hetil., 2011, 152, 763-767. Kulcsszavak: meningovascularis syphilis, vascularis dementia, paralysis progressiva, syphilisszerológia Meningovascular neurosyphilis as the cause of ischemic cerebrovascular disease in a young manAuthors 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 confi rmed by MR angiography. Elevated protein level and pleocytosis were found in the cerebrospinal fl uid 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. Orv. Hetil., 2011, 152, 763-767.

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