High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. METHOD: Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. RESULTS: Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. CONCLUSIONS: Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.

Status epilepticus with visual seizures in ketotic hyperglycemia.

Metabolic disturbances are often associated with epileptic seizures, but the pathogenesis of this relationship is poorly understood. We describe the case of a 48-year-old man who presented with complex partial status epilepticus with visual seizures in the context of ketotic hyperglycemia. The EEG revealed a temporal epileptogenic focus and alterations were apparent on MRI in the acute phase and 4 months later. Very few cases of seizures in ketotic patients have been reported because ketone bodies have a protective effect against epilepsy. Seizures in hyperglycemia tend to be partial, and the only reports of visual seizures were due to occipital foci. Neuroradiological alterations have been reported in epileptic seizures, although usually in generalized seizures. The clinical, electrical, and imaging characteristics of this case are interesting and suggest that partial seizures can also cause long-term neuronal damage.

Dermatomiositis paraneoplásica en un paciente con carcinoma de próstata / No disponible

No disponible

Epidemiology of Mycoplasma agalactiae infection in free-ranging Spanish ibex (Capra pyrenaica) in Andalusia, southern Spain.

Mycoplasma agalactiae is the main causal agent of contagious agalactia syndrome in Spain. It is a severe disease of small ruminants, endemic in Mediterranean countries, that is characterized by mastitis, arthritis, and keratoconjunctivitis. This paper investigates the temporal, spatial, and host-related factors in the distribution of M. agalactiae infection from October 1996 to November 1998 and March 2002 to May 2003 in Spanish ibex (Capra pyrenaica) populations from Andalusia, in southern Spain. The predisposing factors to infection among previously selected factors (year of sampling, climatic season, geographic origin according to province, mountain range and metapopulation, sex, year of life, presence of scabies, and phase of the reproductive cycle) were established. We collected conjunctival and ear-canal swabs from 411 free-ranging ibexes. The frequency of infected ibexes was 11.2%. The peak frequency of infection occurred in 1998 and in summer. Granada was the province with greatest risk (odds ratio = 2.6) of carriers (18.8% infected). The predisposing factors were sex (females), age (young animals), and metapopulation (Sierra Nevada). We identified a higher number of infected ibexes in the metapopulation "Sierra Nevada" (34/ 256) and significant differences among the three established metapopulations (P<0.01). Mycoplasma agalactiae infection represents a risk for population density and maintenance of these wild populations; infections can result in blindness, malnutrition, and polyarthritis leading to numerous deaths.

Antibodies to Mycobacterium bovis in wild carnivores from Doñana National Park (Spain).

We conducted a retrospective serologic survey for antibodies against the MPB70 protein of Mycobacterium bovis in wild carnivores from Doñana National Park (southwestern Spain). Serum samples from 118 red foxes (Vulpes vulpes), 39 Iberian lynx (Lynx pardinus), 31 Eurasian badgers (Meles meles), five Egyptian mongoose (Herpestes ichneumon), four European genet (Genetta genetta), and one Eurasian otter (Lutra lutra) were analyzed using an indirect competitive enzyme-linked immunoassay. Antibodies against the MPB70 protein of M. bovis were detected in seven badgers, five foxes, and one lynx. The frequency of positive animals was significantly higher in badger (23%) than in lynx (3%) and fox (4%). Antibodies were not detected in other species. Annual antibody frequency peaked at 38% in badgers and 11% for red fox. These species may contribute to persistence of bovine tuberculosis in Doñana.

[Evolution study in children with suspected obstructive sleep apnea]. / Datos evolutivos en niños estudiados por sospecha de síndrome de apnea del sueño.

INTRODUCTION: Obstructive sleep apnea syndrome is a common disorder in childhood with an uncertain evolution. OBJECTIVES: Study of children's clinical evolution with suspected diagnosis of OSAS, which was carried out after two years of an overnight polisomnogram. PATIENTS AND METHODS: 73 children were studied. We evaluated if they had been operated and what type of surgery was performed, Brouillete Scale and subjective impressions. We have correlated: age, clinical evolution and surgery. RESULTS: Age was inversely correlated with changes in Brouillete (r=-0.39, p=0.002), standing out that children that underwent surgery were younger (4.1 vs. 7.0 years, Student t: -4.22, p=0.00009). Without the influence of age, the difference between evolution in operated and not operated ones was not significative, statistically speaking, but it was if we analysed the different types of surgery by themselves (Snedecor F: 3.9, p=0.007), tonsillectomy was the larger. CONCLUSION: The middle-term evolution in children with OSAS is good if we use the correct treatment.

[Cognitive evoked potentials in autistic children]. / Potenciales evocados cognitivos en niños autistas.

AIMS: The aim of this study was to examine the latency, amplitude and distribution of N400 potential in order to evaluate the semantic processing capacity in autistic children and in children suffering from Asperger s syndrome (AS), and to compare them with a control group. PATIENTS AND METHODS: 24 autistic children, six boys with AS and 25 controls, aged between 6 and 14 years old. The cases were examined using the DSM IV diagnostic criteria. Auditory stimulation was performed with pairs of congruent and incongruent words: two lists of 20 pairs of semantically related words (congruent) and 20 pairs of words with no semantic relationship whatsoever (incongruent). RESULTS: The most striking parameter is the increase in latency in N400 for the group of autistic children, which did not occur in the group of children with AS. Maximum N400 negativity for the children with autism was found in the left frontocentral region. No significant differences were observed for the amplitude of N400 between the three groups that were studied. CONCLUSION: Neurophysiologically, the autistic children and those affected by AS perhaps use different neuronal networks in semantic processing. The N400 wave can be a valid test for monitoring verbal processing in these children.

[Landau kleffner syndrome]. / Síndrome de Landau Kleffner.

INTRODUCTION: The Landau Kleffner syndrome (SLK) is associated with paroxystic alterations of the electroencephalogram which are intensified during sleep, with acquired aphasia and epilepsy, in 75 83% of the cases. The syndrome is associated with other features, such as personality disorders presenting as autistic behaviour, cognitive regression and in some cases, motor dysfunction. The epileptic activity appears to be responsible for the disorder. Treatment with anti epileptic drugs is ineffective in many cases, although there may be periods of spontaneous improvement, or there may be permanent sequelas of language. Design. A systematic revision of one case. CASE REPORT: A five year old boy with no previous clinical history had, at the age of four years, presented with behaviour changes and aphasia, accompanied by paroxystic changes on the EEG and nocturnal polysomnogram. On cranial CT there was a mid line cyst. He had had no seizures. Treatment. Treatment with carbamazepine led to clinical improvement in behaviour, reduction in the paroxysms and appearance of sleep spindles, but little effect on the degree of aphasia. CONCLUSIONS: The case described is a variant of SLK, with no epileptic seizures, some improvement on carbamazepine and a mid line cyst.

[Post traumatic partial seizures]. / Crisis parciales postraumáticas.

INTRODUCTION: Post traumatic epilepsy represents 4% of the prevalence of the disorder and is one of the sequelas which is most difficult to prevent. Risk factors have been described to predict the appearance of seizures. CLINICAL CASE: A seven year old boy with a severe head injury was admitted to the Intensive Care Unit. On neuroimaging studies there were multiple foci of contusion, mainly in the left hemisphere, and blood in the III and IV ventricles and frontal horn of the left lateral ventricle. The patient had severe sequelae of head injury with a right spastic hemiplegia and hemiparesia with hypertony of the left side, together with complete blindness of both eyes due to bilateral atrophy of the optic nerve. Serial EEG were done, in which a recording showed alternating periods of hypervoltage grapho elements superimposed on a trace of very low voltage, with continuous activity of low voltage and low frequency. There were no grapho elements with acute morphology. However, the patient had a first partial seizure a year and a half after his head injury. On the EEG an epileptogenic focus was identified in the left hemisphere. Within two years of his head injury he had seven seizures. He had not received prophylactic antiepileptic treatment after the head injury. CONCLUSIONS: We report a case of epilepsy secondary to a head injury, in which the first seizure occurred one and a half years after injury. In view of the risk factors, we discuss whether prophylactic anti epileptic treatment might have been beneficial.

Seroepidemiology of chlamydial infections of wild ruminants in Spain.

Chlamydial infections were determined serologically among wild ruminants in the Nature Park of the Sierras de Cazorla, Segura y Las Villas (CNP; Spain). Sampling was done during the period from 1990-95. There were 1,244 blood samples collected, consisting of 490 from fallow deer (Dama dama), 343 from mouflon (Ovis mussimon), 283 from red deer (Cervus elaphus) and 128 from Spanish ibex (Capra pyrenaica). Specific complement-fixing antibodies of Chlamydia spp. were detected by means of microtechnique, using lipopolysaccharide antigen. The relationship of biological (species, sex, age), temporal (year) and territorial (central and peripheral areas) factors to seropositive prevalence was examined, and preliminary data were collected on whether or not sheep and goat herds grazing in the peripheral areas of the park also were infected with Chlamydia spp. Chlamydiosis was common in the four species of wild ruminants in the CNP in all the years studied. The prevalence of Chlamydia sp. in mouflon (37%) was significantly greater than in fallow deer (30%), and both had a significantly higher prevalence rate than Spanish ibex and red deer (both 24%). The four species of wild ruminants were similar in that they act as reservoirs of Chlamydia spp., although their receptivity may be different, and the infection can certainly be maintained among these animals by intra-group transmission. The differences in prevalences and geometric mean titers (GMT), both between the sexes (male versus female) and between different ages (adult versus juvenile), were insignificant in all four species. For all species of wild ruminants both prevalence rates and GMTs were greater in populations occupying the peripheral areas of the park than in those inhabiting the central area. Herds of sheep and goats had a high prevalence of chlamydiosis. Intertransmission of Chlamydia sp. between wild and domestic ruminants occurred through grazing on the same pastures. The highest mean prevalence (44%) of patent infections (CFT titers of > or =1:80) was detected in red deer, although this frequency was not significantly different from those observed in mouflon (39%), Spanish ibex (38%), and fallow deer (37%). The proportion of patent infection was higher in females than in males, and none of the juveniles (<2-yr-old) showed patent infections. The prevalence of predicted patent chlamydial infections was always higher in the peripheral areas of the park, although only among mouflon and fallow deer were the differences statistically significant.

Immunoprophylaxis of caprine contagious agalactia due to Mycoplasma agalactiae with an inactivated vaccine.

The aim of this study was to control endemic contagious agalactia due to Mycoplasma agalactiae in a semi-extensive goat herd by means of vaccination with an inactivated vaccine. Groups of 400 goats were vaccinated one month before and three months after parturition (group A), one month before and four months after parturition (group B), and two months and one month before and three months after parturition (group C). The experiment continued over six lactations and natural infections were monitored clinically, immunologically and microbiologically. After the sixth lactation there were no significant clinical differences between these two groups and group C. The levels of growth-inhibiting antibodies ranged from 1:20 to 1:80 in groups A and B and from 1:40 to 1:160 in group C. The numbers of goats excreting mycoplasmas decreased to a greater extent in group C than in groups A and B. A natural infection induced an outbreak of contagious agalactia in group B. An experimental infection with 10(6) cfe affected seven of 10 goats in group A (two seriously) and two goats in group C moderately. It is recommended that three doses of vaccine should be administered before, and one dose after each parturition, and that the herd should be kept isolated in order to control the disease.