Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study.

AIM: To determine the prevalence, number, and location of multiple (≥2) T2-hyperintensities on brain magnetic resonance imaging (MRI) in children with neurofibromatosis type 1 (NF1) and their correlation with age, and to establish their sensitivity, specificity, and accuracy for the diagnosis of NF1 in children, especially in the early age (2-7 years). METHODS: We performed a cross-sectional study of 162 patients with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI between 1989 and 2009. RESULTS: Multiple T2-hyperintensities were present in 74% of NF1 patients and 1.8% of controls. They were mainly located in the basal ganglia, brainstem, and cerebellum and were significantly decreased in prevalence and number in the older age. T2-hyperintensities had excellent diagnostic accuracy with the area under the receiver operating characteristic (ROC) curve of 0.849 and 95% confidence interval (CI) of 0.805-0.886. The diagnostic sensitivity, specificity, and accuracy rate of T2-hyperintensities for NF1 were highest in the youngest age (2-7 years): 81% (95% CI 71%-89.1%), 99% (95% CI 92.3%-100%), and 85.8 (95% CI 83.3-93.8), respectively. CONCLUSION: This study strongly suggests the inclusion of T2-hyperintensities on brain MRI on the list of diagnostic criteria for NF1, especially in children of early age, when the clinical penetration of the NF1 gene has not yet been completely finished.

Impact of partial liberalization of driver's license regulations on the driving behavior of people with epilepsy: experience from Croatia.

Until 2005 Croatia had a driving ban for people with epilepsy (PWE) on antiepileptic therapy. To investigate the impact of partial liberalization of legislation, the results of polling performed in 1999 and 2009 were compared. The results revealed that in 1999, despite the driving ban, 46.9% of respondents had a driver's license, whereas in 2009, the majority of respondents with a driver's license (60.2%) fulfilled the requirement criterion of 2 years' remission. In both pollings, one-third of respondents answered that they were driving less often than other drivers. The rate of PWE who were driving was inversely proportional to the seizure rate. In 2009 a greater proportion stated that they drove motorcycles, and few PWE (<5%) declared they were driving more often than others. The inefficiency of rigid legislation and indicators of self-restraint of PWE may be arguments in favor of liberalization, but liberalization should be accompanied by appropriate education programs.

Hyperprolactinaemia with amisulpride.

Psychopharmaca are used in treatment of psychiatric illnesses and disorders, among other therapeutic possibilities. The choice of the psychopharmaca is determined by the specific psychopathology of the patient, within the diagnostic categories, according to the current classification of diseases and disorders. With the advances in pharmaco industry, the range of drugs used in the everyday clinical practice is occurring at a very rapid pace. Antipsychotic medications are used in treatment of mainly psychotic disorders. However, the new generation of antipsychotics, due to their specific receptor affinities, is sometimes used in treatment of affective disorders as well. We are reporting a case of a female patient who was hospitalized several times. Amisulpride was introduced in the treatment and due to a series of unfortunate events and changes that followed (i. e. frequent hospitalizations and changes of therapists, different mental institutions) dose of amisulpride was gradually increased to its antipsychotic doses, which did not help achieve therapeutic benefits, but serious side effects.

Antipsychotic treatment--side-effect and/or metabolic syndrome.

According to current medical opinion chronic mental diseases such as schizophrenia require life-long treatment. The choice of antipsychotics is an important treatment factor, since their side-effects often influence patients' compliance with treatment. Severe side-effects may cause the patients to reject such treatment, the latter being their right. In case a psychiatrist does not agree with the patient's decision to interrupt his antipsychotic treatment regardless its serious side-effects, the former should be persistent in convincing the patient to replace such drug with a more appropriate therapy.

Weight gain--as possible predictor of metabolic syndrome.

Rapid weight gain among patients with mental disorders can further compound psychological distress and negatively influence compliance. Weight gain associated with treatment with atypical antipsychotic medication has been widely recognized as a risk factor for the development of diabetes type II and cardiovascular diseases. This paper describes a 33-year old female patient treated for schizoaffective disorder. Within two months after introducing quetiapine the patient experienced considerable weight gain amounting to 19 kg. The replacement of antipsychotic during inpatient psychiatric care resulted in weight loss.

Lamotrigine treatment of a patient affected by epilepsy and anxiety disorder.

Epilepsy often occurs in comorbidity with mental diseases and disorders. Early detection and/or treatment of such disorders in patients affected by epilepsy, as well as their socialisation are crucially important since epileptic patients tend to suffer more due to lack of social support than to frequent epileptic seizures. Prevalence of psychiatric disorders is higher in patients with epilepsy than in general population, the most frequent being: anxiety, depression, panic attacks, behavioural disorders as well as psychotic states with paranoid elements. The efficacy of AE treatment of patients affected by epilepsy and mood disorders has also directed clinicians to investigate possible AE benefits in treating other mental disorders such as anxiety states, depression and bipolar disorder. The examined case displays complex partial epilepsy and comorbid mental disorder. The use of lamotrigine, a fourth-generation antiepileptic, which is also a mood stabilizer, has assured a favourable remission of symptoms related to both epilepsy and mood disorders. Side-effects caused by lamotrigine were only temporary and dose reduction was sufficient to eliminate their symptoms.

Allergic reactions--outcome of sertraline and escitalopram treatments.

The treatment of dysthymia in itself poses a problem in the everyday psychiatric practice and it can be further hindered when accompanied by pronounced personality traits (which are indicative of disorder). Due to its pathology and duration dysthymia interferes with the patient's quality of life and the ability to function in some segments of everyday life. These interferences enticed our patient to opt for psychiatric treatment. During a three-year period, despite all the efforts made by psychiatrists in this comprehensive and challenging dysthymia treatment (psychotherapy, group psychotherapy, psychopharmacotherapy), the expected outcomes of the treatment did not occur. The patient's goals and expectations included lifestyle change, achieving life satisfaction and mood improvement. The patient was refusing suggested psychopharmaca until confronted, in psychotherapy, with the fact that she is the one prolonging her own helplessness and directing her passive agression at the members of the group. In the end the patent agreed to take psychopharmaca. Therefore, sertraline was introduced in the treatment, but the patient experienced a severe allergic reaction (Qiuncke's oedema). After four months the second attempt was made and escitaloptam was introduced, which resulted in urticaria. Due to these allergic reactions to antidepressants, the patient decided not to pursue the psychopharmacological treatment.

Drug-induced aseptic meningitis, sensorineural hearing loss and vestibulopaty.

We report clinically rare and serious adverse reactions that occurred after the co-administration of ranitidine, ibuprofen and ciprofloxacin: completely reversible aseptic meningitis and irreversible bilateral sensorineural hearing loss, tinnitus, and vestibulopathy. Recurrent urinary inflammations treated with antibacterials, classic familial migraine, and allergy to trimethoprim-sulfamethoxazole and chromium were favourable predisposing factors for the adverse event in this patient. A close chronological relation between administration of drugs (especially ibuprofen) and adverse reactions was noted. No evidence of infection and/or autoimmune disease was found. The mechanism of these serious events may be explained as a hypersensitive reaction affecting the meninges and, partially, cochlea.

Neurological and psychiatric aspects of corpus callosum genesis.

This article reports the case of a patient with partial agenesis of the corpus callosum manifested with corpus callosum syndrome together with signs of brain hemispheres dysfunction: mental impairment, epilepsy and pyramidal signs. The patient's malformation is combined with left-handedness while signs of callosal disconnection are not present. Mild cognitive impairment and late epilepsy onset require a multidisciplinary approach since the patient also displays elements of central nervous system malformations.

Depressive disorder and alopecia.

Psychophysical dermatitis is frequently manifested in patients that suffer from psychiatric illnesses and disorders as well as in patients that suffer from depressive disorders. These diseases occur or worsen after acute stress that may trigger them. Difficulties in expressing feelings or impossibility to verbalise them are connected to somatic diseases. In order to emphasize their importance, we will present a case of a 58 years old woman who has been suffering from alopecia areata that developed after her husband's death. The patient doesn't function well since then - she is socially isolated, she has lost self confidence and self esteem. As she has realised it was impossible to live like that, she decided to seek psychiatric help. The patient should be examined through the prism of the interdisciplinary treatment and as an integral structure of the mind and body.

Medical and bioethical issues in a pregnant woman with epilepsy: case report.

A case report of a minor, pregnant girl with epilepsy caused by a brain tumour is presented. There are several aspects which make the presented case complex from medical, but also from the bioethical point of view. The decision about keeping the pregnancy or not is the most important bioethical dilemma for the patient and family. A detailed medical multidisciplinary approach and later balanced explanation of the medical situation to the patient are of extreme value for helping the patient's decision. It is also important to enhance the activities in pregnancy counselling for a woman with epilepsy which will result in a planned pregnancy as a prerequisite for a positive pregnancy outcome.

[Epilepsy and pregnancy: antiepileptic drugs effects on pregnancy]. / Epilepsija i trudnoca--primjena antiepileptika u trudnoci.

PURPOSE: The aim of our study was to analyse the antiepileptic drugs (AEDs) usage in pregnant women with epilepsy, and to evaluate possible complications of this therapy during pregnancy and delivery as well as fetal effects of there drugs. METHODS: This retrospective study was conducted in the University Hospital Center Rijeka, Croatia, during the ten-year period (Jan 1, 1993-Dec 31, 2002). The study included 151 pregnant women with epilepsy. Data were entered in a structured form for evaluation of patient general data and data on antiepileptic therapy and neonatal outcome according to the use of AEDs. RESULTS: During the study period, 185 children (male 95) were born. Twenty-four miscarriages were recorded in women with the diagnosis of epilepsy in their medical history. In 117 of women, the onset of epilepsy occurred before the age of 20 years. AEDs were used in 111 of patients, in 77% of them as monotherapy. The most frequently used AEDs were carbamazepine (36.2%), valproate (29.3%), phenobarbitone (24.1%). Folic acid was used in 25 pregnancies only, however, during 2002 folic acid was used in 15 pregnancies (yielding 22 in total). Apgar score was equal or higher than 8/8 in 96% of children. No specific teratogenic effects were observed. CONCLUSION: Study results showed standard AEDs to be most commonly used in the study population, entailing no major birth defects, thus the potential risk probably being rather low. In the study population of pregnant women with epilepsy, the use of folic acid improved in 2002 in comparison to the previous period.