[Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome]. / Ectrodactylia, ectodermalis dysplasia, ajak- és szájpadhasadék szindróma.

The ectrodactyly-ectodermal dysplasia-clefting syndrome is an extremely rare genetic disorder that is inherited as an autosomal dominant trait, but can also occur sporadically. It is characterized by the triad of ectrodactyly (absence of fingers), ectodermal dysplasia and cleft lip and palate along with variable involvement of other organs. Both the ectodermal and mesodermal tissues may be affected resulting in a spectrum of phenotypes. Early diagnosis and treatment signify a unique challenge for those involved in the clinical management, while enable counseling and preparation of parents for the tasks ahead of them. In our report, we describe the case of a patient with sporadic EEC syndrome. In addition to the presentation of the complex phenotype along with the medical interventions, we summarize the most important characteristics of the disease, the diagnostic and therapeutic possibilities as well as the clinical significance of the accurate genetic verification. Using whole exome sequencing, we identified in the 3q28 chromosomal region a pathogenic mutation within the TP63 gene previously linked to the EEC3 phenotypes. The knowledge of pathogenic mutation provides the means to prenatal diagnostics or in vitro fertilization methods that allows us to minimize the possibility of inheriting the syndrome in the patient's offspring. By presenting our case, we aim to draw attention to this rare and disabling disease that requires the high quality works of a multidisciplinary team capable of ensuring good quality of life for the patient. Orv Hetil. 2023; 164(46): 1831-1837.

Panic disorder in otoneurological experience.

The evaluation of cochleovestibular dysfunction in psychiatric patients often causes a difficult problem in neurootological experience. The authors discuss here the neurobiological basis of panic disorders and cochleovestibular dysfunction. In this multicenter study, we examined 63 patients with vertigo and panic disease. Twenty patients with primary panic disease and consecutive vertigo composed group 1, whereas group 2 comprised 43 vertiginous patients with secondary panic disease. The most interesting question is whether the patients have an organic vestibular lesion, which would explain why vertigo alone is the problematic symptom in these panic patients, whereas in other patients, panic disease can cause other severe symptoms that resemble heart attack, dyspnea, or abdominal crisis. Vertigo has a bidirectional connection with psychiatric disorders. The panic disorder can be superimposed on chronic vertigo, and psychiatric patients with a cochleovestibular lesion have diminished chances for complete recovery. The examination of psychiatric patients with vertigo is very time consuming and requires much more empathy than does examination of vertiginous patients with a normal mental state. Anxiety provokes somatic and behavioral symptoms in most such patients. The treatment of vertigo in panic patients and of the panic disorder in vertiginous patients requires cooperation between neurootologist and psychiatrist.

Cortical projection of peripheral vestibular signaling.

The cerebral projection of vestibular signaling was studied by using PET with a special differential experimental protocol. Caloric vestibular stimulation (CVS)-induced regional cerebral blood flow (rCBF) changes were investigated in two populations. Butanol perfusion scans were carried out on six healthy volunteers and on six patients following the removal of tumors from the right cerebello pontine angle. The complete loss of the vestibular function postoperatively allowed a comparison of the rCBF changes in the populations with or without this input and offered a promising functional approach whereby to delineate the cortical region most responsive to pure vestibular input. The activations by left-sided and right-sided CVS were determined for both the healthy volunteers and the patient population. Statistical analysis of the data obtained following left-sided CVS did not reveal any cerebral region for which there was a significant difference in CVS-induced response by these two populations. In the case of right-sided CVS, however, the statistical comparison of the CVS-related responses demonstrated a single contralateral area characterized by a significantly different degree of response. This cortical area corresponds to part of the cortical region described recently which can be activated by both CVS and neck vibration. It appears to be anatomically identical to the aggregate of the somatosensory area SII and the retroinsular cortex described in primates, a region identified by other investigators as an analog of the parietoinsular vestibular cortex.

[Spatial standardization of [15O]-butanol PET images using T1-weighted MRI data]. / [15O]-butanol PET-vizsgálatok térbeli standardizálása szegmentált, T1-súlyozott MRI-felvételek segítségével.

Population averaged brain activation studies require the spatial standardization of the individual perfusion PET images. This procedure is usually supported by T1-weighted MRI images. The authors developed a segmentation technique to improve the automatized transformation of the individual MRI images into Talairach space. It was for the first time in Hungary that population averages of standardized T1-weighted MRI and [15O]-butanol PET images of the brain were created after validation of the procedure using data from 23 healthy volunteers. The newly developed method offers a solution for the automatized processing of primary data from brain activation experiments prior to statistical analysis.

[Effect of pathologic and induced peripheral vestibular balance disturbance on the central nervous system]. / Patológiás és indukált perifériás vestibularis egyensúlyzavar központi idegrendszeri hatása.

The authors investigated the central projection of excitement in acute stage vestibular neuronitis using positron emission tomography. The changes in the pattern of regional cerebral blood flow caused by the disease were compared with the effect of cold caloric stimulation known to provoke similar signs. It was concluded that the involved brain regions overlapped each other only partially. The mismatch could be explained by the compensatory processes developing during the disease. These processes do not normally develop during the caloric vestibular stimulation because of its short duration.