Idiopathic Parkinson’s disease is a progressive neurological disorder, characterized by the occurrence of various movement and non-motor disturbances (olfactory, neuropsychiatric and autonomic dysfunctions). This paper discusses autonomic disturbances in Parkinson’s disease, which significantly impair patients. Autonomic dysfunctions are present already in early disease stages. They include cardiovascular, urogenital system dysfunctions, gastrointestinal, feeding, thermoregulatory disturbances, and seborrhoea. Autonomic dysfunctions in Parkinson’s disease are related to the function of parasympathetic and sympathetic system. This paper discusses the detailed clinical and neuropathological correlation, which includes scope of the autonomic functions. The research proved that disability of patients with Parkinson’s disease is mainly related to the levodopa non-responding symptoms (neuropsychiatric disturbances, falls, dysphagia, urinary dysfunction and orthostatic hypotension). These disturbances significantly worsen the patient’s life quality, and even disallow an independent functioning. In such cases there is a need to consider administration of drugs with action mechanism different than dopaminergic. There is a need to recognize the levodopa non-responding symptoms in patients with Parkinson’s disease, which may be very disturbing for the patient. A proper diagnosis of patient’s dysfunctions is very important, since sometimes an increasing levodopa treatment may have a negative impact upon patient’s condition. The paper discusses various therapy methods, based mainly upon the recommendations of the European Federation of Neurological Societies (EFNS).
Neuropathic pain, beside the nociceptive one, is clinically difficult in terms of a diagnosis as well as the treatment process. The variety of mechanism engaged in its pathogenesis is basics to apply the medicine about different mechanisms of operations. Neuropathic pain result from the damage caused to the pain track above the nociceptors in the peripheral and central nervous systems. Difficulties in neuropathic pain treatment emerge from the process of structural rebuilding within damaged fibres and neighbouring healthy ones. Early interrupt of the pain prevent the structural rebuilding. Antiepileptic drugs, in addition to antidepressants and opioids, are fundamental and often applied group of medications in neuropathic pain treatment of various aetiology. Their efficacy has been well known for a very long time. The medications of older generation as well as the newest ones are equally applied. Carbamazepine is generally used in treatment of neuropathic pain and the best efficacy and recommendations of this medicine is for trigeminal neuralgia. The medications of newer generation, such as gabapentine and pregabaline, appeared to be most effective in neuropathic pain treatment and diabetic neuropathy as well as after herpes zoster. Most antiepileptic drugs, particularly of the newest generation, exert significant efficiency in neuropathic pain treatment. There is lamotrigine, oxcarbazepine and topiramate among them, evaluated in a number of medical reports as helpful in its treatment.
Widening of foetal cerebral ventricles is one of the most commonly diagnosed anomalies of the foetal brain and one of the most common reason, why pregnant women are referred to the referral centre. This abnormal finding very often is misdiagnosed as the hydrocephalus, but it is not the hydrocephalus according to the classical definition. Extended cerebral fluid accommodation in foetus may be an isolated finding, but it may also coexist with other anomalies of the brain, other congenital anomalies and also with genetic syndromes – in each case of the cerebral ventricles widening, other abnormalities should be excluded. Presence of other anomalies changes the prognosis for the foetus/neonate and determines further parental counselling. In the case of hydrocephalus prenatal intervention may be considered, whereas other foetal brain anomalies (e.g. holoprosencephaly) may be lethal conditions, so appropriate diagnosis of the anomaly is crucial for planning of the perinatal care. Here we present foetal brain anomalies coexisting with extended cerebral fluid accommodation or suggesting foetal hydrocephalus, and their characteristic features, which should be considered in differential diagnosis.
The corpus callosum is an important brain commissure connecting the cerebral hemispheres and is essentials for efficient cognitive function. The corpus callosum is derived from lamina terminalis. Until the eighth weeks of gestation, only the most rostral part is formed; the caudal portion develops about 18-20 weeks of gestation. A disturbance of this process may lead to agenesis or partial agenesis (hypogenesis or dysgenesis) of the corpus callosum. Insults responsible for agenesis of the corpus callosum or varying degrees of hypoplasia of the corpus callosum are not identified. An early failure may lead to complete agenesis, whereas a later one will lead to partial genesis or hypoplasia. Its prevalence varies in different studies, depending on the population studied and the diagnostic criteria. ACC is often associated with other cerebral and/or extracerebral malformations including syndromes and metabolic diseases. Although the overall prognosis of ACC remains controversial, several studies have reported a worse prognosis in the presence of additional anomalies; in the less frequent cases of isolated ACC, it appears to carry a prognosis compatible with normal or borderline postnatal development in most cases. We review the current state of knowledge regarding the sonographic characterization, management and prognosis of the agenesis of corpus callosum.
Current scientific literature on a subject of foetal brain tumours, however rich, consists mainly of case reports, produced by either obstetricians – ultrasonographers or radiologists and neuropathologists. In this review, we summarize state of the art literature on that subject and we performed a meta-analysis of 92 cases from that literature and presented our own cases referred to us as to a reference centre. This centre is obstetrical and paediatric and provides a complex care for both a pregnant woman, a foetus and, eventually, a newborn with a brain tumour. We report here the main categories of the central nervous system (CNS) foetal tumours: subependymal giant cell astrocytoma (SEGA), teratomas, lipomas, medulloblastomas and germinomas. Foetal brain tumours are mainly sporadic and familial occurrences are rare. We cover prenatal diagnosis – ultrasonography and magnetic resonance imaging (MRI). Foetal brain tumours are relatively readily diagnosed by ultrasonography provided their diameter exceeded 10 mm. However, they may be difficult to detect if “covered” as in cases of unilateral ventriculomegaly or in asymmetric hydrocephalus. The medical procedures, problems of termination of pregnancy in Poland and postnatal prognosis are also described. Eventually, tumours of the CNS in pregnancy are also discussed.
An arachnoid cyst is a fluid-filled space that is formed between two walls of arachnoid. Those cysts do not communicate with the subarachnoid space. It is congenital malformation of the central nervous system (CNS), which occur with a frequency of 1% of newborns with brain tumour. Arachnoid cyst is a congenital malformation that is formed after the embryogenesis. Currently (the last 20 years), arachnoid cysts are detected during life, since the prenatal period, mainly by imaging techniques. Arachnoid cysts are either “primary”, being a sequelae of faulty embryogenesis of arachnoid, or secondary, or acquired. The latter result from haemorrhages, infections or trauma. Secondary arachnoid cysts commonly communicate with subarachnoid space and, by definitions, are not “true” arachnoid cysts. This review covers definitions and data of the frequency of the arachnoid cyst as well as of current options to detect and diagnose it within the prenatal period since the 13th week of gestation using different modes of ultrasonography and magnetic resonance imaging. The differential for the arachnoid cyst consists of porencephalic cyst, schizencephaly, Dandy-Walker syndrome, arteriovenous malformation of Galen, neoplastic cyst, brain tumours and brain haemorrhages. This review also discusses the prognosis for foetus suffered from arachnoid cysts as well as the role of chromosomal abnormalities in their aetiology. Current recommendations are provided in case of prenatal arachnoid cyst detection.
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant muscle disorder. Occasional cases of autosomal recessive inheritance have been reported. The pathogenic mechanism of OPMD is unknown. The mutation of the gene encoding PABP1 protein has been detected in patient with OPMD. It consists in expansion of GCG triplet repeat sequence in this gene. Pathological alleles consist of expansions greater that 8 and up to 13 GCG repeats. Due to its prevalence of 1 to 2% in the Western world, the (GCG)7 allele per se is condidered a polymorphism. Clinically OPMD is characterized by slowly progressive blepharoptosis, dysphagia, limb weakness and dysarthria during the fifth or sixth decade of life. Cases of OPMD have been reported in 30 countries. In this report, we described 68-year-old patient with OPMD that has been verified by genetic testing. Dysphagia was occurred in the patient at the age of 28. The blepharoptosis, limb weakness and dysarthria occurred later than dysphagia. Additionally, patient’s mother, older patient’s sister and one brother of the patient’s mother similar symptoms are presented.