[Big blind spot syndrome (papillophlebitis) with unusual visual field defect]. / Nagy vakfolt szindróma (papillophlebitis) szokatlan látótérkieséssel.

We present three cases, where young patients had unilateral disc edema with normal optic nerve function. We diagnosed their disease as big blind spot syndrome (BBSS). What is remarkable, however, is that in two of the three cases the extent of the visual field defect considerably exceeded the one regularly emerging in BBSS, which caused us some difficulty in differential diagnosis. The characteristics and the differential diagnostic questions of the big blind spot syndrome are summarised and we would like to draw attention to this unusual, but probably not very rare, form of it.

[Pseudo abducens palsy]. / Pseudoabducens paresis.

In this study, we present two cases of different eye movement disorders with variable case histories but with the same end stage; abduction paresis of one of the eyes, which ceased when the other eye was covered. Our differential diagnosis is that either the ocular form of myasthenia gravis, convergence spasm or ocular myotonia could explain the symptoms. However, we hypothesize that the clinical picture corresponds to pseudo abducens palsy or focal dystonia of the extraocular muscle, which in turn could be the result of impaired inhibition of the tonic resting activity of the antagonistic medial rectus muscle. We offer an explanation for the patomechanism of pseudoabducens palsy and the variants of internuclear ophthalmoplegia.

[Posterior cortical atrophy (Benson-syndrome)]. / Hátsó corticalis atrophia (Benson-szindóma).

We present the characteristics of posterior cortical atrophy--a very rare cortical dementia--in a 69 year old woman's case. Our patient's symptoms began with a visual problem which was initially explained by ophthalmological disorder. After neurological exam visual agnosia was diagnosed apart from other cognitive disorder (alexia without agraphia, acalculia, prosopagnosia, constructional disorder, clock-time recognition disorder, dressing apraxia, visuospatial disorientation). The brain MRI showed bilateral asymmetric parieto-occipital atrophy which is characteristic of posterior cortical atrophy.

[Posterior ischaemic optic neuropathy]. / Hatsó ischaemiás opticusneuropathia.

Here one case report of the posterior ischaemic optic neuropathy, a rare and underdiagnosed form of the non arteritic ischaemic optic neuropathy is presented, to underline the value of the MRI in the diagnosis. The ischaemic optic neuropathy is the infarction of the optic nerve. Depending on the affected segment of optic nerve (optic nerve head or retrobulbar segment) two subclasses exist: the anterior (AION) and the posterior (PION) ischaemic optic neuropathy. Ischaemic optic neuropathy characterized by sudden, painless, mononuclear loss of vision, and/or visual field defect, that is accompanied by a diagnostic picture of the optic disc fundus only in the case of the AION. The diagnosis of the PION is based on a diagnosis of exclusion described by Hayreh in 1981. The macular and retinal lesions, the etiological role of toxic agent, the compression and the inflammation of the optic nerve all have to be excluded. The differential diagnosis between the PION and the retrobulbar neuritis is more difficult. Nowadays, in addition to the case history and the clinical data the diagnosis of the PION could be confirmed with help of VEP (visual evoked potential) and MRI. In the case of an old woman who had a sudden, painless visual loss of left eye we confirmed the diagnosis of PION with MRI which was presumed after had excluding other etiological factors.

[The potential role of childhood ADHD in the development of heroin dependence at a young age]. / A gyermekkori figyelemhiányos hiperaktivitási zavar lehetséges szerepe a fiatalkori heroinfüggôség kialakulásában.

Several studies suggested a possible link between substance use disorder and attention deficit hyperactivity syndrome (ADHD). The ADHD Rating Scale (ADHD-RS) completed by parents is a tool for diagnosing ADHD in childhood. We adapted this questionnaire for a self-report retrospective scale to estimate the presence of childhood ADHD symptoms in adults. This retrospective questionnaire was completed by 121 heroin dependent patients and 85 age- and sex-matched healthy controls. The ADHD Rating Scale Retrospective Questionnaire is a novel tool for assessing ADHD symptoms that demonstrated high validity. Our results showed strong gender difference in the prevalence of ADHD symptoms, since male subjects obtained higher mean scores of both attention-deficit and hyperactivity scales than females in both the control and the heroin dependent population. Besides, mean score of both scales were higher in the clinical population as a higher portion of substance abusers reported symptoms of childhood ADHD than controls. These results support the hypothesis that untreated childhood ADHD could be a risk factor for developing substance use disorder.

Combined effect of promoter polymorphisms in the dopamine D4 receptor and the serotonin transporter genes in heroin dependence.

Dopamine D4 receptor (DRD4) and serotonin transporter (SERT) gene polymorphisms were studied, as possible genetic risk factors for substance dependence. The case-control study involved a large cohort (n = 362) of healthy Caucasian population, and an initial sample of 73 substance dependent patients (including a subgroup of 53 heroin dependents). Improved methods were applied for genotype detection of the DRD4 polymorphisms (exon 3 48 bp VNTR; -521 C/T SNP and 120 bp duplication in the 5' flanking region) and the SERT gene polymorphisms (5-hydroxytriptamin transporter linked polymorphic region [5-HTTLPR] in the 5' flanking region and the intron 2 VNTR [STin2]). Association between the -521 C/T SNP of the DRD4 promoter region and substance dependence was significant in the subgroup of heroin dependents (p = 0.044). The other analyzed polymorphisms did not show any significant association, but an interaction between -521 C/T SNP of DRD4 and the 5-HTTLPR polymorphisms was observed. Association between the -521 CC vs. CT or TT genotypes and heroin dependence was enhanced in the presence of short (s or 14-repeat) 5-HTTLPR allele (p 0.01). The odds ratio of 2.14 observed for the -521 CC genotype increased to 4.82 in double homozygotes of -521 CC and 5-HTTLPR ss, emphasizing the importance of combined analysis of polymorphisms in the dopaminergic and serotonergic systems in heroin dependence. However, due to the limited size of our sample these results should be interpreted with caution.

Contribution of serotonin transporter gene polymorphisms to pediatric migraine.

BACKGROUND: The serotonin transporter gene is a promising candidate locus for the genetic susceptibility of migraine. OBJECTIVE: Two functional polymorphisms of the serotonin transporter gene (5-HTTLPR and STin2) were analyzed to assess whether these variants are associated with pediatric migraine. METHODS: Eighty-seven Hungarian pediatric migraine patients and 464 controls were genotyped using polymerase chain reaction. Patients suffering from migraine with (n = 38) or without aura (n = 49) were interviewed regarding the clinical symptoms before or during the attacks. RESULTS: There was no difference between genotype or allele distribution of 5-HTTLPR and STin2 polymorphisms in the entire group of migraineurs and controls. Analysis of subgroups showed an association between STin2 and migraine with aura, as the 12,12 homozygote genotype was overrepresented in this group of patients. Furthermore, similar allele and genotype patterns were found in cases with severe vomiting and abdominal pain. CONCLUSIONS: These results confirm and extend the association between the STin2 polymorphism of 5-HTT gene and migraine with aura using pediatric probands. Our data also suggest a novel endophenotype for pediatric migraine characterized by excessive vomiting and abdominal pain during the attack.