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)


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.


  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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Clinical Neuroscience

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[Objective - Our aim is to evaluate sleep habits, sleep quality and influencing factors among preschool- and schoolchildren. Method - Two questionnaires were recorded. Questionnaire 1 dealt with sleeping habits, breastfeeding and health behavior of preschool children and infant, and it contained the abbreviated version of the Children’s Sleep Habits Questionnaire. Questionnaire 2 dealt with health behavior and the application of sleep hygiene rules, as well as it contained the Athens Insomnia Scale. Subjects - We assessed a total of 1063 questionnaires: 516 kindergarten children participated in our online survey across the country; 547 primary and secondary school students participated in the 2nd questionnaire survey in Szolnok. Results - Parents’ observation shows that the average nighttime sleeping time of kindergarten children is 10 hours 20 minutes on weekdays and 10 hours 36 minutes on weekends. The most popular sleeping habits in kindergarten age: teal reading (65.1%) and co-sleeping (42.8%). Parents of infants used breastfeeding (50.4%) and rocking (43.2%) most frequently before sleep. Co-sleeping has a positive influence on the length of lactation. Among the preschool sleeping habits we have proved a number of positive effects of teal reading, while watching television have negative effects. The sleep quality of school-age children according to the Athens Insomnia Scale is 6.11 points (SD: 4.11), 19% of the children are insomniac. Their sleep time is 7 hours 31 minutes on weekdays and 9 hours 30 minutes on weekends. The usage of good health behavior and sleep hygiene rules positively influence sleep quality and sleep duration. Conclusions - With our results, we would like to draw the attention of children and parents to the importance of sleeping and using sleep hygiene rules.]

Clinical Neuroscience

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Morvan syndrome is a rare disease characterized by peripheral nerve hyperexcitability, encephalopathy, dys­autonomia and significant insomnia. The patient, who was included in the present study, was followed-up at our clinics for confusion, myokymia, hyperhidrosis, epileptic seizures, tachycardia, agitation, hypokalemia, and hyponatremia. The cranial MRI of the patient demonstrated hyperintensities at the T2 and FLAIR sections of the medial temporal lobe and insular lobes. Electromyography and neurotransmission examination results were concordant with peripheral nerve hyperreactivity. Contactin-associated protein-like 2 antibodies and leucine-rich glioma inactivated protein 1 antibodies were detected as positive. The patient was diagnosed with Morvan syndrome; intravenous immunoglobulin and corticosteroid treatment was started. Almost full remission was achieved. This very rare syndrome implies challenges in diagnosis and treatment; however, remission can be achieved during the follow-up. In addition, caution is needed in the long-term follow-up of these patients regarding the development of malignancies.

Clinical Neuroscience

Investigation of risk factors, topographic location and stroke mechanisms of unilateral isolated and posterior cerebral ARTERY thalamic infarcts

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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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Clinical Neuroscience

Isolated hypoglossal nerve palsy due to a jugular foramen schwannoma


Introduction – Although the involvement of the hypoglossal nerve together with other cranial nerves is common in several pathological conditions of the brain, particularly the brainstem, isolated hypoglossal nerve palsy is a rare condition and a diagnostic challenge. Case presentation – The presented patient arrived to the hospital with a history of slurred speech and an uncomfortable sensation on his tongue. Neurological examination showed left-sided hemiatrophy of the tongue with fasciculations and deviation towards the left side during protrusion. Based on the clinical and MRI findings, a diagnosis of hypoglossal nerve schwannoma was made. Discussion – Hypoglossal nerve palsy may arise from multiple causes such as trauma, infections, neoplasms, and endocrine, autoimmune and vascular pathologies. In our case, the isolated involvement of the hypoglossal nerve was at the skull base segment, where the damage to the hypoglossal nerve may occur mostly due to metastasis, nasopharyngeal carcinomas, nerve sheath tumors and glomus tumors. Conclusion – Because of the complexity of the region’s anatomy, the patient diagnosed with hypoglossal nerve schwannoma was referred for gamma knife radiosurgery.

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