Clinical Neuroscience

[CONGENITAL CATARACTS FACIAL DYSMORPHISM NEUROPATHY SYNDROME - FIRST HUNGARIAN CASE REPORT]

SISKA Éva1, NEUWIRTH Magdolna2, REBECCA Gooding3, MOLNÁR Mária Judit1

MAY 20, 2007

Clinical Neuroscience - 2007;60(05-06)

[The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is a recently described autosomal recessive developmental disorder. It is almost completely restricted to an endogamous group of the European Vlax Roma population, called the Rudari. The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by facial dysmorphism, congenital cataracts, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia. This disorder is caused by a homozygous mutation of the carboxy-terminal domain phosphatase 1 (CTDP1) gene, localized to the 18q23 region. Authors present one genetically identified case in a large Roma family. The case documents that the CCFDN mutation is present also in the Hungarian Roma population. Underlie of antropomorphological data the authors presume that the CCFDN mutation reached Hungary as a result of emigration of Vlax Gypsies in the 18th century. The paper calls attention to the fact that molecular genetic diagnostics can replace invasive methods and makes possible the identification of heterozygotes without clinical symptoms. The introduction of the genetic screening enables us to perform genetic counselling and prevention in this high-risk population.]

AFFILIATIONS

  1. Országos Pszichiátriai és Neurológiai Intézet, Budapest
  2. Magyarországi Református Egyház Bethesda Gyermekkórház, Budapest
  3. Edith Cowan University, Perth

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Clinical Neuroscience

[TREATMENT OF SPASTIC UPPER LIMB WITH BOTULINUS TOXIN]

DÉNES Zoltán, FEHÉR Miklós, VÁRKONYI Andrea

[Objective - Examination of the effect of local botulinus toxin treatment on spastic upper limb, on patients with different brain injury. Patients and method - Prospective study in Traumatic Brain Injury Rehabilitation Unit of the National Institute for Medical Rehabilitation in the year 2003 and 2004. Thirteen patients (eight with stroke and five with traumatic brain injury) were treated locally on the spastic upper limb with 100 units botulinus A toxin. Results - Spasticity decreased one or two level on Modified Ashworth Scale, and in nine cases the good result were observed still at the end of 3rd month. No local or other complication was detected. Conclusions - Local treatment with botulinus toxin is an effective and safe method to decrease spasticity on upper limb in patients with different brain injury.]

Clinical Neuroscience

[NOVEL CELL-BIOLOGICAL IDEAS DEDUCIBLE FROM MORPHOLOGICAL OBSERVATIONS ON “DARK” NEURONS REVISITED]

GALLYAS Ferenc

[The origin, nature and fate of ”dark“ (dramatically shrunken and hyperbasophilic) neurons are century-old problems in both human and experimental neuropathology. Until a few years ago, hardly any cell-biological conclusion had been drawn from their histological investigation. On the basis of light and electron microscopic findings in animal experiments performed during the past few years, my research team has put forward novel ideas concerning 1. the nature of ”dark“ neurons (malfunction of an energystoring gel-structure that is ubiquitously present in all intracellular spaces between the ultrastructural elements), 2. the mechanism of their formation (non-programmed initiation of a whole-cell phase-transition in this gel-structure), 3. their capability of recovery (programmed for some physiological purpose), 4. their death mode (neither necrotic nor apoptotic), and 5. their relationship with the apoptotic cell death (the gel structure in question is programmed for the morphological execution of ontogenetic apoptosis). Based on morphological observations, this paper revisits these ideas in order to bring them to the attention of researchers who are in a position to investigate their validity by means of experimental paradigms other than those used here.]

Clinical Neuroscience

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Clinical Neuroscience

[PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY]

PÁL Endre, ASCHERMANN Zsuzsanna, GÖMÖRI Éva, KOVÁCS Gábor Géza, SIMON Gábor, MARÓDI László, KOMOLY Sámuel, ILLÉS Zsolt

[Progressive multifocal leukoencephalopathy is a rare disease caused by the reactivation of an opportunistic agent, JC virus almost in every cases in immunodeficient conditions. The disease is characterized by multifocal demyelinating lesions of the central nervous system and causes death within a few months. The authors report two patients: a 67 year-old male treated because of chronic lymphoid leukemia, and a 19 year-old male having a hereditary immunodeficiency, X-linked hyper IgM syndrome. In both cases continuously progressive right, later both hemispheric signs were detected. Cerebrospinal fluid was not helpful. Brain MRI showed bilateral large, white matter lesion. The progression was not influenced by the treatment, finally both patient died ten and six weeks after the appearance of first complaints. The diagnosis was confirmed by brain biopsy and autopsy in both cases. Our cases demonstrate that progressive multifocal leukoencephalopathy can develop in various immunodeficiencies.]

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FEHÉR Gergely, POHL Marietta, KAPUS Krisztián, GOMBOS Katalin, PUSCH Gabriella, MÁK Kornél, KOLTAI Katalin, BANK Gyula, KÓSA Gábor, VARJASI Gábor, TIBOLD Antal

[The management of neuropathic pain is a challenge both for patients and medical professioners. A novel approach is recommended for its management based on the novel neurobiological results of pain research. Multidisciplinary teams and medical consensus are required due to the variety of symptoms and concomittant psychopathology. This approach allows us to avoid extensive diagnostic and trerapeutic workups and appropiate treatment for our patients. Most extensive evidence is available for pharmacological treatment, and currently recommended first-line treatments include antidepressants (tricyclic agents and serotonin-norepinephrine reuptake inhibitors) and anticonvulsants (gabapentin and pregabalin). The aim of our review was to collect articles focusing on the efficacy of the most widely available and cheapest tricyclic agent, amitriptyline in different neuropathic pain conditions. ]

Clinical Neuroscience

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[Background - We tested whether in diabetic polyneuropathy the temperature dependence of the median nerve conduction parameters reflects the severity of neuropathy. Methods - We validated an electrophysiological score against clinical signs of polyneuropathy. Electroneurography was performed at temperatures from 20-40 °C in diabetic patients with mild, moderate and severe neuropathy and controls. Results - The electrophysiological score reflected the clinical severity of polyneuropathy. At room temperature there were significant differences among groups in almost all parameters. In thermal sensitivity studies were significant differences in distal and proximal motor and sensory areas and in sensory conduction velocities. These four parameters normalized to 1 °C change in temperature also significantly differed among the four groups and were largest in controls and smallest in severe polyneuropathy. Conclusions - The use of an integral parameter - areas are essentially amplitudes integrated over time - increases the probability of detecting decreased thermal sensitivity of peripheral nerves in diabetes.]

Clinical Neuroscience

Nerve conduction study and gastrocnemius H reflex response in rheumatoid arthritis

EMRE Ufuk, ORTANCIL Özgül, UNAL Aysun, KIRAN Sibel, SAPMAZ Perihan, ATASOY Tugrul

Objectives - We aimed to evaluate nerve conduction studies and gastrocnemius H reflex responses in rheumatoid arthritis (RA) patients and compared to the healthy adult subjects. Materials and methods - Twenty-six RA patients and twenty-two healthy adult subjects were included in the study. The nerve conduction study (NCS) findings and bilateral gastrocnemius H reflex responses were evaluated in all the groups. Age, gender, subcutaneous nodules, joint deformities, laboratory parameters, duration of disease, anti-rheumatic drug and steroid usage were recorded. Activity of disease was assessed using a 28-joint disease activity score (DAS28).The functional status was measured using the health assessment questionnaire (HAQ), pain intensity measured using a visual analog scale (VAS). Results - The rate of electroneuromyographic (ENMG) abnormalities was 73% in RA patients. The most common diagnosis was carpal tunnel syndrome (61.4%). There were no significant correlations between ENMG findings and clinical and laboratory features evaluated. Right H reflex latencies were statistically longer in RA patients (p=0.03). According to calculated cut-off levels, there were more subjects with longer H reflex latencies in RA patients. Conclusions - In this study, entrapment neuropathies were found common as independent identity from duration and severity of disease in RA patients. For H reflex latencies, cut-off values were longer in RA patients. It may provide information about the early neuropathic involvement of long peripheral nerves in RA patients. But this findings are needed to be supported by larger population study.

Clinical Neuroscience

Correlation of vitamin D levels with electrophysiological findings and pain in the patients with Carpal Tunnel Syndrome

DEMIRYÜREK Enes Bekir, SENTÜRK Asli

Objective - This study aimed to assess the correlation between vitamin D deficiency and electrophysiological findings and pain level in patients with symptoms of carpal tunnel syndrome (CTS). Patients and method - A total of 131 patients with symptoms of CTS, 70 with vitamin D deficiency and 61 without vitamin D deficiency, were included in the study. Using demographic data and findings from electrophysiological examinations, the patients were divided into two groups based on their vitamin D level (Group 1: <20 ng/ml; Group 2: ≥20 ng/ml). The Boston Carpal Tunnel Syndrome Questionnaire was used to assess their CTS- related pain level. Results - Although the rate of CTS in the patients with a low vitamin D level was found to be high, no statistically significant correlation was observed between low vitamin D level and the frequency and severity of CTS. Additionally, the pain and functional loss ratio induced by CTS was found to be higher in the group with a lower vitamin D level than in the group with normal levels. Conclusion - Low vitamin D levels may increase the severity of CTS symptoms. Treatment of vitamin D deficiency in patients with CTS can play a role in reducing pain and disability.

Clinical Neuroscience

Quality of life of patients with non-diabetic peripheral neuropathic pain; results from a cross-sectional survey in general practices in Hungary

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Background and purpose - There is a lack of data on the impact on health related quality of life of peripheral neuropathic pain in Hungary. The main aims of the study were to assess the health related quality of life of nondiabetic PeNP patients identified in general practices through screening, and to assess the relationship between condition specific pain scores and health state utilities. Methods - Non-diabetic patients aged ≥30 years were recruited in 10 general practices in Hungary. At first, patients filled in the PainDETECT Questionnaire (PD-Q) and those who have achieved ≥13 PD-Q score (unclear or possible neuropathic pain) were further assessed by the DN4 questionnaire. Patients with PD-Q score >18 or DN4 score ≥4 were considered to have PeNP and they completed the EQ-5D health questionnaire. Results - Among the 111 patients identified as non-diabetic PeNP patients the mean age was 62 (SD=14) years, 69% were women. Average EQ-5D score was 44% lower than the gender and age matched Hungarian norm (0.42 vs. 0.75, p<0.001) and it worsened with increasing pain intensity. The pain/discomfort and anxiety/depression were the most affected EQ-5D dimensions. Strong relationship was demonstrated between the PD-Q and EQ- 5D score. Most of the PeNP patients (86%) were undiagnosed. Conclusions - Non-diabetic PeNP pain has a huge negative impact on health related quality of life. Although PeNP is a serious chronic condition, the disease burden is seriously underestimated, both on the level of individuals and society, due to the fact that patients are rarely identified.