Clinical Neuroscience

Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and KRIT1 gene mutation

KALMÁR Tibor1, MARÓTI Zoltán1, VADVÁRI Árpád2, HALMOSI Ágnes3, KÁLOVITS Ferenc4,5, KÁLMÁN Bernadette5,6

JULY 30, 2019

Clinical Neuroscience - 2019;72(07-08)

DOI: https://doi.org/10.18071/isz.72.0273

Cerebral cavernous malformations (CCMs) represent a relatively rare and heterogeneous clinical entity with mutations identified in three genes. Both sporadic and familial forms have been reported. We present a young female patient with episodic paresthesia and headaches, but without acute neurological deficits. Her mother had a hemorrhaged cavernoma surgically removed 21 years ago. Cranial magnetic resonance imaging revealed multiple cavernous malformations in the size of a few millimeters and the ophthalmologic exam detected retinal blood vessel tortuosity in the proband. Targeted exome sequencing analysis identified a nonsense mutation in exon 16 of the KRIT1 gene, which resulted in a premature stop codon and a truncated protein underlying the abnormal development of cerebral and retinal blood vessels. This mutation with pathogenic significance has been reported before. Our case points to the importance of a thorough clinical and molecular work up despite the uncertain neurological complaints, since life style recommendations, imaging monitoring and genetic counseling may have major significance in the long term health of the patient.

AFFILIATIONS

  1. University of Szeged, Institute of Pediatrics and Pediatric Health Center, Szeged Hungary
  2. Markusovszky University Teaching Hospital, Department of Radiology, Szombathely
  3. Markusovszky University Teaching Hospital, Department of Ophthalmology, Szombathely
  4. Markusovszky University Teaching Hospital, Department of Neurosurgery, Szombathely
  5. University of Pécs, School of Medicine, School of Graduate Studies, Pécs
  6. Department of Molecular Pathology of the Markusovszky University Teaching Hospital, Szombathely

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Introduction - Restless Leg Syndrome (RLS) is a disease, primarily composed of sensational symptoms, caused by the urge to move lower extremities especially at night, and characterized by undesired feelings of the legs. Decreasing of the dopaminergic effect at night is thought to be responsible from these symptoms. RLS patients suffer from low quality of sleep affecting their daily life activities even causing socio-economic loss. Although RLS is a common and treatable disease, it can not be diagnosed easily due to the variability of symptoms. Aim - The purpose of this study is to determine the frequency of RLS among health workers and to define the disease causing factors. Method - A questionnaire was applied to 174 randomly selected health workers at Baskent University Medical Faculty (KA17/285). The demographic information, history of illnesses or usage of drugs, socioeconomic status, working hours and daytime sleepiness were questioned. Included in the questionnaire were diagnostic criteria for RLS, frequency assessment scale, and survey of sleep quality. We used “the diagnostic criteria of international RLS working group” for the diagnosis, and “Pittsburgh sleep quality index survey” to determine the quality of sleep. Reliability and validity studies were performed on both tests. Results - A significant relationship between socio-economic status and RLS was found (p<0.05) as an increase of RLS frequency in parallel with decreased socio-economic status. RLS was found to be common among health workers. We suggest that health workers should be checked regularly, and they should be informed about the disease in order to raise an awareness and hence increase their quality of life.

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Aim - In this study, we aimed to examine the risk factors, topographic features and stroke mechanisms of acute ischemic unilateral infarcts of thalamus. Methods - Patient with isolated thalamic infarct and those with posterior cerebral artery (PCA) infarction who were admitted to our hospital between January 2014 and January 2017 with acute unilateral thalamic infarction (TI) were included in this study (isolated thalamic infarction/ isolated TI; thalamic and posterior cerebral artery infarction/PCA+TI). Demographic characteristics and vascular risk factors of the patients were determined. Thalamic infarct areas were recorded topographically as anterior, posteromedial, ventrolateral, posterolateral, more than one area, and variant areas. Stroke mechanism was determined according to the criteria of „Trial of Org 10172 in Acute Stroke Treatment” (TOAST). Patients with isolated TI and PCA TI were compared according to risk factors, stroke mechanism and infarct topography. Results - Forty-three patients with a mean age of 63.3 ± 14.5 years were included in the study. Twenty-eight patients (60.1%) were found to have isolated TI and the remaining 15 patients (34.9%) had PCA+TI. 32.1% of patients with isolated TI had sensory symptoms on presentation, and 60% of patients with PCA-TI had sensorimotor symptoms. The mean age, the mean score on National Institutes of Health Stroke Scale (NIHSS) and the mean frequency of atrial fibrillation were higher in PCA+TI patients than in isolated-TI patients (p: 0.04, p: 0.004, p: 0.02 respectively). 32.6% of the patients had ventrolateral, 30.2% had posteromedial involvement. Ventrolateral topography was seen in 46.7% of the PCA+TI patients, while posteromedial topography was seen in 39.3% of the isolated-TI patients. 53.6% of the isolated-TI had small vessel disease etiology, while 40% of the PCA+TI had cardioembolic etiology, and the other 40% had large artery atherosclerosis. Conclusion - Our study showed that the most ommon stroke mechanism in patients with thalamic infarction is the small vessel disease. Isolated TI and PCA+TI patients differ in terms of etiologic mechanism and infarct topography. Variant territorial involvement and multiple area involvements can be quite common in thalamic infarcts.

Clinical Neuroscience

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