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A Tendero

Publications and source records attributed to A Tendero.

At least 19 recordsLinked to original sources
PubMed1998

Hypomelanosis of ITO. A study of 76 infantile cases.

We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points of view. Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85). Thirty-seven patients (49%) had seizures, consisting of infantile spasms in six cases (8%). Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were observed as well. Some other anomalies, such as syndactyly, clinodactyly, abnormalities of the skeleton, asymmetry of the facies, ears, body and/or extremities, gynecomastia and asymmetrical breasts, short stature, oral alterations, congenital cardiopathies and genital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studies did not disclose specific findings.

Alopecia↗
PubMed1998

[The value of images in diagnosis of neuron migration disorders].

OBJECTIVE: To present the fitest classification and the imaging peculiarities of the malformations of cortical development, most of which have been related with the epilepsy origin. METHODS: The study is based on an anatomical-histological classification scheme that shows three great groups of malformations of cortical development: 1. Malformations due to abnormal neuronal and glial proliferation. 2. Malformations due to abnormal neuronal migration. 3. Malformations due to abnormal cortical organization. RESULTS: The result of these abnormalities of the cortical development is the presence of several anatomical histological entities, actually perfectly identified by the magnetic resonance (MR), especially with the new high resolution methods. The most frequent entities, such as polymicrogyria, lissencephaly, pachygyria, schizencephaly, cerebral heterotopia (cortical, subcortical or subependymal), and other rarer types are reviewed according with the numerous references of the literature and the findings observed in the cases of our series of about one hundred patients which includes cases of every type of malformation. CONCLUSION: MR is a conclusive study in order to identify and classify the malformations of cortical development, most of which are associated with neurological disturbances: epilepsy, mental retardation, language and/or behavioral problems or motor dysfunction.

Brain↗
PubMed1996

[Spectroscopic magnetic resonance in hemimegalencephalus].

INTRODUCTION: Hemimegalencephalus (HM) is a disorder of cerebral migration characterized by the overdevelopment of one cerebral hemisphere. It is usually associated with pachygyria, gliosis and neurone loss. We present a study using stereoscopic magnetic resonance (SMR) in a case of HM confirmed by the pathologist. CLINICAL CASE: A girl with right HM had hemigeneralized crisis since birth. A selective right temporoccipital cortectomy was done when she was two and a half years old. The resected piece showed thickening and absence of cortical striation, neurone loss, gliosis, giant neurones and heterotopias. After a symptom-free period the crises reappeared as right fronto-parietal epileptiform anomalies. When she was four years old SMR was done to compare this area with the corresponding area of the radiologically normal left hemisphere. Comparative study showed a marked drop in N-acetyl-aspartate (NAA), glutamate (Glu) and Gaba, and increased choline (Col) and inositol (Ino). We found no difference in the creatinine levels. CONCLUSIONS: The histological findings are in concordance with the levels of metabolites found in the affected hemisphere. The drop in NAA and Glu is related to neurone loss and the increase in glial cells, and the increase in Col and Ino with increase in membranes metabolism, as is observed in the gliosis. SMR is an advance in the identification and grading of changes seen on conventional MR, when establishing the prognosis and choice of treatment in HM.

Brain↗
PubMed1980

[Etiology of mental deficiency. Study based on 3735 cases (author's transl)].

A study on the etiology of MD was done on 3735 children with mental retardation. Selection of patients was verified by precise alphabetical train in order to obtain the different factors of MD with objectivity. The highest percentage of MD was constituted by pathology concerning pre- and/or peripartum problems (53.78%), being on the contrary very low the percentage of MD of unknown etiology (8.219%). Authors think that it is possible to verified correct diagnosis of cases with MD if the clinical knowledge is large the adequate para-clinical studies (biochemistry, EEG, EMG, cytogenetic and neuroradiology) are practised. The unknown etiology of MD must be low. In their opinion MD accompanying CNS malformations and dysmorphic syndromes must not be classified as MD of unknown etiology. Emphasis is done on the necessity of having in consideration real percentages of etiological factors when programs for education of subnormal children are developed.

Adolescent↗
PubMed1977

Bilateral obstruction of the vertebral arteries in a three-year-old child.

A three-year-old boy developed gait instability, nausea, vomiting, cranial nerve disturbances, hypotonus and dysarthria. Angiography of the four main cranial arteries showed complete obstruction of both vertebral arteries at the level of C1 to C2. Abundant collateral circulation was observed, which by-passed the obstruction to the vertebral arteries before their enterance into the posterior cranial fossa. The left vertebral artery was hypoplastic and both internal carotid arteries showed coiling in their extracranial portions. A high erythrocyte sedimentation rate at the beginning of the disease suggests an inflammatory alteration of both dysplastic vertebral arteries. The child recovered completely one month after the onset of symptoms. All other reported cases of childhood vertebro-basilar obstruction are reviewed and it is emphasized that the site of arterial obstruction has an important bearing on the clinical outcome.

Arterial Occlusive Diseases↗
PubMed1976

Developmental defects of the cerebellum. A radiologic and anatomic investigation.

A classification of cerebellar malformations is proposed, based on more than fifty cases with varying degrees of abnormality, where comparative anatomic and radiologic analysis was carried out. The anatomic information was collected at surgery or autopsy and the radiologic evidence was derived from encephalography or ventriculography and vertebral angiography. The malformations were classified in four groups in order of gravity, with regard to the morphologic and etiologic features: (1) total or sub-total agenesia of the cerebellar structures (vermis and hemispheres); (2) almost complete agenesia of the vermis associated with the Dandy-Walker malformation; (3) almost complete agenesia of the vermis without the Dandy-Walker malformation; (4) partial defects of the vermis, which could be separated into four subdivisions.

Arachnoid↗
PubMed1975

Cerebro-facio-thoracic dysplasia: report of three cases.

Three children, two girls and one boy, are described as suffering from a new syndrome, 'cerebro-facio-thoracic dysplasia'. The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae and sometimes in the cervical region, together with a variety of deformities of the upper ribs. It seems possible that the condition is hereditary and that it may be inherited as a result of an autosomal recessive trait.

Child↗
PubMedDate not supplied

[A study of Gobbi's syndrome in Spanish population].

INTRODUCTION: The association of epilepsy, occipital cerebral calcifications and coeliac disease was recognized for the first time in 1992 by Gobbi as an independent syndrome. He emphasized that it occurred almost exclusively in persons of Italian origin. OBJECTIVE: To define the prevalence of this syndrome in the Spanish population with a view to confirming its probably genetic etiopathogenesis. PATIENTS AND METHODS: Neurological studies were done in 44 coeliac patients, as were cranial CT scans. All cases of Spanish origin described in the literature were noted. RESULTS: In the patients with coeliac disease there was an increased incidence of crises and generalized epilepsy, but no patient was found to have occipital calcifications. Only 12 cases of Spanish origin were found, mainly in the Canary Isles and Mediterranean littoral, in spite of the high incidence of coeliac disease in Spain. No familial cases were seen. CONCLUSIONS: We suspect a genetic etiopathogenesis, associated with different environmental factors, to be the origin of the syndrome. This is supported by the common geographical origin of most cases and the anatomopathological findings described in those cases studied.

Adolescent↗
PubMedDate not supplied

[Occipital leptomeningeal angiomatosis without facial angioma. Could it be considered a variant of Sturge-Weber syndrome?].

INTRODUCTION: The association of cerebral leptomeningeal angioma and facial nevus flameus in the territory of the first branch of the trigeminal nerve ipsilateral to the angioma is known as the Sturge-Weber syndrome. The cases with absence of a facial angioma are usually considered to be variants of the syndrome. OBJECTIVE: To present four cases with occipital leptomeningeal angioma without facial angioma and describe the characteristics which differentiate them from or permit their inclusion within the group of Sturge-Weber syndrome, and also to establish the differences between this and the Gobbi syndrome (occipital cerebral calcifications, epilepsy and coeliac disease. CLINICAL CASES: We selected four cases in whom cranial magnetic resonance was done with intravenous gadolinium and three cases studied to rule out coeliac disease. The cerebral calcifications, unilateral in all four cases, were similar to those observed in the Sturge-Weber syndrome. All cases had leptomeningeal angiomas at the level of the cerebral calcification shown by the uptake of contrast material on magnetic resonance. Three patients had epilepsy but none had facial angiomas, hemiparesis or glaucoma. Coeliac disease was also ruled out, both on laboratory investigations and on intestinal biopsy. CONCLUSIONS: The cases described coincide with the Sturge-Weber syndrome in all having cerebral leptomeningeal angiomas. This differentiated them from the Gobbi syndrome which does not include meningeal angiomata. Another characteristic of the Sturge-Weber syndrome is the occurrence of epilepsy and mental deficiency. Whilst awaiting molecular genetic studies, our cases may be included semantically as a variant of the Sturge-Weber syndrome without the characteristic facial angioma, although they may possibly correspond to genetically different conditions.

Adolescent↗
PubMedDate not supplied

[Schilder's diffuse myelinoclastic sclerosis].

OBJECTIVE: The aim of this study is to analyze clinical features, neuroradiological findings and evolution associated with Schilder s disease (SD). PATIENTS AND METHODS: We describe 5 cases (4 female/1 male) diagnosed of SD. Clinical characteristics, neuroimaging (CT and MRI), EEG, evoked potential analysis (4/5) and laboratory tests are provided, including the level of serum very long chain fatty acid of plasma cholesterol esters (3/5). RESULTS: Patients were aged between 7 and 12 years. The first clinical manifestations were: hemiparesis (3/5), quadriparesis dysarthria (1/5), and seizures cerebellar dysfunction (1/5). Other clinical features were: partial seizures (3/5), cerebellar dysfunction (2/5), loss of sensibility (3/5), visual loss (1/5), and dysarthria (2/5). CT scan and MRI showed large zones of hypodensity in the hemispheric white matter (4/5) with enhancement in T2 weighted MRI images. This finding was also observed in medulla (1/5) and cerebellum (1/5). Laboratory data were normal. EEGs showed general slow background patterns in all cases. Abnormal evoked potential analysis were recorded in 3 children. Clinical improvement followed the steroid therapy in all cases. Clinical evolution was: minimal motor disabilities (5/5), recurrences (3/5), controlled seizures (3/3), and psychomotor retardation (1/5). CONCLUSIONS: SD is a rare demyelinating disorder, with a probable relationship to multiple sclerosis. The course of this disease is unpredictable; recurrences may appear and sequelae are frequently observed. Diagnosis should be based on clinical features, neuroradiological findings and evolution.

Child↗
PubMedDate not supplied

[Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children].

INTRODUCTION: The presence in neuroimaging of areas of symmetrical bilateral hypodensity in the basal ganglia (SBHBG) is a striking and unusual finding. OBJECTIVE: To determine the aetiology, clinical significance and evolution of a group of paediatric patients with SBHBG. PATIENTS AND METHODS: We made a study of 21 patients with neuroimaging studies (CT or MR) showing SBHBG. The affected area was related to the aetiology, clinical features and evolution. RESULTS: The ages varied between 4 months and 16 years. In 7 cases Leigh s disease was diagnosed, 5 had had acute hypoxia, 4 type I glutaric aciduria, and 1 case each of methylmalonic aciduria, Ia gluconeogenesis, CO intoxication, acute striatal necrosis and bacterial meningitis. The putamen was affected in 6 cases, globus pallidus in 4 cases and the lenticular nucleus was damaged in the rest. Three cases also had lesions in the caudate nucleus. MR was better than CT for localization of the precise area involved. Clinically, 13 cases had extrapyramidal signs. We found no relation between the size, localization of the lesion and the prognosis, which was more dependent on the aetiology, only one patient (CO intoxication) recovered and eight died (Leigh s disease and 1 case of hypoxia). CONCLUSIONS: The presence of SBHBG in a patient makes extensive study necessary to find the aetiology. It is a nonspecific finding, usually of metabolic origin and with little correlation with the clinical condition. Its presence implies a poor prognosis and raises suspicion of the presence of certain neurological disorders.

Adolescent↗
PubMedDate not supplied

[Neonatal EEG trace of burst suppression. Etiological and evolutionary factors].

INTRODUCTION: The electroencephalographic (EEG) trace seen during the neonatal period which shows so called discharges of burst suppression, is caused by a severe disorder of cerebral electrogenesis occurring at this time. OBJECTIVE: To determine the aetiology, clinical significance and evolution of a group of newborn babies with this type of EEG trace. PATIENTS AND METHODS: We made a retrospective study of fullterm babies in whom burst suppression EEG recordings had been obtained during the neonatal period. RESULTS: We studied 34 patients. In 14 cases the trace was associated with hypoxic ischemic encephalopathy; 4 with meningitis; another 4 with early infantile epileptic encephalopathy (Ohtahara syndrome); 4 cases were attributed to drugs (4 with fentanyl associated in one case with phenobarbitone and in another with midazolam); 2 cases were due to early myoclonic epilepsy; 3 to multiple organ failure; one to non ketotic hyperglycinemia and another to leucinosis. In one patient the aetiology could not be determined. Seven patients died before the age of 6 months. Severe neurological sequelae were seen in all the others except for four cases (3 treated with fentanyl and one case with hypoxic ischemic encephalopathy). CONCLUSIONS: The presence of a burst suppression EEG trace in a neonate makes extensive study to determine the aetiology necessary. Although associated with a worse prognosis, those not treated with piperidine derivatives should be classified separately. Those treated with piperidine derivatives have a good prognosis.

Calcium Channel Blockers↗
PubMedDate not supplied

[Alpha coma: clinical, electroencephalographic and aetiological correlation in childhood].

INTRODUCTION: Alpha coma is defined as the appearance, in an unconscious patient, of EEG activity in the alpha frequency band (8-13Hz). OBJECTIVE: To determine, in our setting, the incidence, aetiology, clinical significance and course of alpha coma in paediatric patients and review the literature. PATIENTS AND METHODS: We did a retrospective study of the patients admitted to a paediatric intensive care unit who had alpha activity recorded whilst in coma. RESULTS: Only two patients, aged 5 and 12 years, were found. Both had complex congenital cardiopathy and cardio-respiratory arrest one and twelve days postoperatively, respectively. Several EEGs were done whilst they were in coma. Barbiturate coma was not used. Both had clinical mid-brain involvement during alpha recording. The pattern was bilateral, arreactive and preceded by a theta pattern, appeared two days after the arrest, was maintained for two and three days in the two cases and was followed by delta pattern. The second case finally showed a 'burst-suppression'. The CAT was normal. The patients died 4 and 11 days after the appearance of alpha coma. CONCLUSIONS: Alpha coma is rare in childhood. Both the aetiology and the bad prognosis are similar to that of adults. Alpha coma is a transient EEG pattern occurring during the evolution of coma. We consider it to be due probably to mid-brain involvement.

Adult↗
PubMedDate not supplied

[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies].

INTRODUCTION: Lafora s disease is a type of progressive myoclonic epilepsy with bad prognosis. Until now diagnosis was based on finding characteristic intracytoplasmatic polyglucosan bodies in biopsies of sweat secreting cells in the skin. Recently the gene responsible has been discovered. This permits firm diagnosis and screening of carriers. We present the case of a child diagnosed on molecular genetic studies. CLINICAL CASE: A 12 year old boy with a clinical history of three febrile seizures at the age of one year but no other abnormalities, presented a seizure of visual disorder with secondary generalization. There was no family history of seizures. Following a period of normality he had further seizures (clonic, visual and generalized myoclonic). The EEG showed generalized spike and wave activity, which was more marked after stimulation by light and became progressively worse. Neuroimaging studies were normal. In spite of treatment there was a progressive increase in visual and generalized myoclonic seizures together with deterioration of cognitive function and ataxia. Histological studies of the sweat glands showed homogeneous nodular deposits of intracytoplasmatic PAS+. Molecular studies of the EPM2A gene linked to chromosome 6q24 showed the presence of two mutations on the 1 and 4 exons. CONCLUSIONS: We describe a 12 year old patient with all the clinical features of Lafora type progressive myoclonic epilepsy in whom characteristic cytoplasmic bodies were found in the sweat gland biopsy. Molecular genetic studies of the EPM2A gene confirmed diagnosis of the disorder.

Child↗
PubMedDate not supplied

[Severe myoclonic epilepsy in infancy. Clinical and paraclinical aspects].

INTRODUCTION: Severe myoclonic epilepsy in infancy (SMEI), or Dravet s syndrome, is one of the most serious forms of epilepsy in infancy. In this study we analyse the clinical characteristics of the process. PATIENTS AND METHODS: The cases reported in the literature are surveyed, together with a personal casuistic, from both a clinical and paraclinical point of view, and we assess the form of onset and the clinical, EEG and neuroimaging manifestations at different ages. RESULTS: In most cases the disorder is characterised by onset during the first year of life, with febrile seizures, normal development prior to the onset of the seizures, multivariate critical phenomenology throughout the progression, early resistance to treatment, initial normality of EEG results and progressive neurological deterioration with ataxia and long tract signs. CONCLUSIONS: The diagnosis of SMEI depends on the combination of clinical manifestations and EEG at different ages, and the presence of myoclonic seizures constitutes the most significant fact. The lack of strict diagnostic criteria allows for the existence of cases that are not perfectly identified. A percentage of cases exist that do not fulfil all the abovementioned criteria. The recent description of a mutation in the alpha subunit of a neuronal voltage dependent sodium channel (SCN1A) in chromosome 2q24, as the likely source of the process, will allow screening to be carried out in the early phases of the disorder. It will also allow studies to be conducted on the phenotype genotype correlation of the disease.

Child, Preschool↗
PubMedDate not supplied

[Is benign childhood paroxysmal eye deviation a non-epileptic disorder?].

INTRODUCTION: Benign childhood paroxysmal eye deviation (BCPED) is classified as a 'non-epileptic paroxysmal disorder'. CASE REPORTS: We report the cases of four patients aged between 6 months and 2 years, who suffered brief episodes of upward conjugate gaze deviation, with no clonic movements or associated cognitive deterioration. These episodes, which lasted several seconds, appeared in short repeated bouts that became worse with fatigue. Results of the neurological exploration, laboratory examinations, neuroimaging (CAT, MRI, brain ultrasonography) and a neurophysiological study, which included EEG-video monitoring and EEG performed during the waking state, were all normal. A nocturnal polysomnographic study was later conducted for 7-8 hours and EEG, EMG and EOG readings were recorded. The trace showed focal or generalised paroxysmal discharges during non-REM sleep in the form of polyspike-wave and spike-wave complexes. Sleep analysis (Reschstaffen and Kales) showed only a shortened REM sleep latency, with no clear clinical meaning. Several cases have been reported in the literature with identical symptoms and normal results in the diagnostic tests, including daytime polysomnography. CONCLUSIONS: The appearance of these epileptic anomalies in the nocturnal study makes it necessary to perform a complete nocturnal polysomnography. In spite of these findings, BCPED courses favourably and has a benign prognosis both with and without antiepileptic treatment. We therefore believe that BCPED should be classed within the group of 'benign idiopathic epilepsies of childhood'.

Electroencephalography↗
PubMedDate not supplied

[Vertebral and basilar arterial oclusions in children. A case report and review of literature (author's transl)].

A nine-year-old boy with thrombosis in the right vertebral artery is presented. When child was 20 months old symptoms began suddenly with loss of consciousness, hemiparesia in the left side and later on psychomotor involution. The various aspects of the vertebral and basilar occlusions are discussed when they happen before the age of fourteen, of which there are 19 other cases published already. Etiology of this affection is very mixed in children and frequently unknown. There are more than one obstruction in 50% of patients and very often the nearest one is located at the level of the axis. Evolution is better in children than in adults, being dependant on such factors as the type of initial symptom, location of occlusion and quantity of collateral circulation present.

Basilar Artery↗