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J Arcas

Publications and source records attributed to J Arcas.

At least 19 recordsLinked to original sources
PubMed2006

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for these chromosomal abnormalities routinely. Multiplex ligation-dependent probe amplification (MLPA) is a new technique for measuring sequence dosage, allowing large number of samples to be processed simultaneously and thus significantly reducing laboratory work. We have assessed its performance for the detection of subtelomeric rearrangements by comparing the results with those of our previous multiprobe fluorescence in situ hybridization (FISH) assay. We have tested 50 patients with idiopathic MR, dysmorphic features, congenital malformations, and/or familial history of MR. Our results show a high degree of concordance between the two techniques for the 50 samples tested. On the basis of these results, we conclude that MLPA is a rapid, accurate, reliable, and cost-effective alternative to FISH for the screening of subtelomeric rearrangements in patients with idiopathic MR.

Chromosome Aberrations↗
PubMed2001

Hypohidrosis related to the administration of topiramate to children.

PURPOSE: Topiramate (TPM) is an antiepileptic agent, first licensed in the United Kingdom in 1994, that is used in the treatment of patients with refractory seizure disorders. TPM is a monosaccharide d-fructose derivate, with sulfamate function, and so far, few adverse side effects have been reported. METHODS: We describe three patients with epilepsy who were treated with TPM and developed hypohidrosis, heat and exercise intolerance, as well as fever. The sudomotor function was assessed after peripheral stimulation with pilocarpine iontophoresis. RESULTS: Sweat response was reduced in all three patients. Signs and symptoms ceased after drug suppression. CONCLUSIONS: This side effect associated with TPM, which has not been described previously, can be clinically significant during heat stress and exercise challenge.

Adolescent↗
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↗
PubMed1997

[Clinical significance of episodes of apnea in babies].

INTRODUCTION: The presence of episodes of apnea (EA) in infants is very alarming and requires rapid, precise determination of the etiology in view of the relationship with the syndrome of sudden death of infants. MATERIAL AND METHODS: We therefore studied 16 patients, aged between 1 and 12 months, admitted to to hospital after having episodes where they stopped breathing for more than 15 seconds, with or without associated bradycardia. Patients with previous or associated convulsions, premature birth or low birth weight for gestational age were excluded from the study. In all cases a prolonged EEG was recorded. RESULTS: The commonest age of presentation of EA was 3-4 months. In one case there was a history of a sudden infant death occurring in a brother. The etiology was determined in 12 cases: gastroesophageal reflex in 5, epilepsy in 3, hyponatremia in 2, drug reaction in 1, bronchiolitis in 1 and hypoglycemia in another. In three cases where no cause was found the EA was not repeated, although apnea monitorization was necessary for several months because of the anxiety of the family. CONCLUSIONS: Of the 3 cases in which EA was a critical epileptic sign, only 2 could be demonstrated on a Holter recording. In one of these, progress was poor and resistant crises of different morphology later occurred. We consider that EA in infants requires a thorough etiological study. Cases of unknown etiology require prolonged EEG recording to determine whether the apnea is cerebral in origin, followed by prolonged monitorization of apneas to avoid possible sudden death.

Apnea↗
PubMed1997

[Internal ophthalmoplegia: a rare complication of varicella].

INTRODUCTION: Internal ophthalmoplegia complicating Chickenpox is rare. Fifteen cases have been reported so far. CLINICAL CASE: We reported a new case of this neurological complication in a 3 1/2 year old girl that 6 days after the onset of the typical rash, the right pupil was dilated and fixed to light and accommodation. Pupillary dilatation and accommodative paralysis persist after five years, but spectacle correction has restored the visual acuity.

Chickenpox↗
PubMed1997

[Unilateral agenesis of the internal carotid artery in childhood: description of a case].

INTRODUCTION: Unilateral or bilateral agenesis of the internal carotid artery has not often been described in children since it is usually asymptomatic. CLINICAL CASE: We describe a case of isolated unilateral agenesis of the internal carotid artery in a child of 20 months old who presented with two episodes of status convulsives, the first after a head injury and the second when he was febrile. The anomaly was a casual finding, diagnosed on cerebral magnetic resonance when there was no signal corresponding to carotid blood flow. It was confirmed by echography-doppler and angiographic magnetic resonance. We also describe the neuro-radiological findings which led to the diagnosis of this anomaly. CONCLUSIONS: We consider that unilateral agenesis of the carotid artery was a casual finding in this case. The provisional diagnosis may be made when there is absence of vascular signals on conventional magnetic resonance.

Carotid Artery, Internal↗
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↗
PubMed1994

[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].

BACKGROUND: The hypoxanthine-guanine phosphoribosyltransferase deficiency (HGPRT) may have two clinical forms: that of the Lesch-Nyhan syndrome (complete HGPRT deficiency) and that of the Kelley-Seegmiller syndrome (partial HGPRT deficiency). The clinical and biochemical features of the HGPRT deficiency are not completely known. METHODS: A series of 12 patients, 8 with the Lesch-Nyhan syndrome and 4 with the Kelley-Seegmiller syndrome are described. The plasma and urine concentrations of hypoxanthine, xanthine and uric acid were compared with those obtained in 20 normal subjects and 41 patients with primary gout. The molecular defect which determines the deficient HGPRT activity was studied in one patient with the Kelley-Seegmiller syndrome. RESULTS: The 8 patients with the Lesch-Nyhan syndrome presented choreoathetosis, corticospinal motor system dysfunction, mental retardation and signs of self mutilation. The neurologic manifestations of the patients with the Kelley-Seegmiller syndrome were very heterogeneous: two patients had psychomotor retardation with spastic movement, one was mentally retarded with generalized dystonia and one patient only had gout with no neurologic manifestations. The erythrocytic HGPRT activity ranged between 0.28 and < 0.01 nmol/h and mg of hemoglobin in all the patients. Plasma and urine purine concentrations were very high, being greater than those in normal subjects and patients with gout (p < 0.01). A mutation was identified in exon 3 (substitution of guanine with thymine) conditioning the substitution of the normal glycine amino acid by valine (HGPRT Madrid) on molecular study. CONCLUSIONS: The hypoxanthine-guanine phosphoribosyltransferase deficiency has a heterogeneous clinical expression. The activity of this enzyme in erythrocytes and the results of the metabolism of the purines do not allow prediction of the severity of the clinical manifestations.

Adult↗
PubMed1992

Early infantile epileptic encephalopathy: a case associated with hemimegalencephaly.

The authors report a case of early infantile epileptic encephalopathy (EIEE) associated with hemimegalencephaly. The etiological factors in previously published cases of EIEE are reviewed and attention is focused on the high proportion of cases associated with neuronal migration disorders. We suggest that idiopathic cases of EIEE would be due to such disorders.

Brain↗
PubMed1991

Primary intracranial arachnoidal cysts. A study of 67 childhood cases.

Sixty-seven cases (41 males and 26 females) of arachnoidal cysts in children under 11 years are reported. About 53% of cases were diagnosed before 1 year of life. Thirty-one (42.2%) were supratentorial (interhemispheric 9, temporal fossa 10, convexity 5, sylvian fissure 3, supra- and/or retrosellar 4); 31 (46.2%) infratentorial (supra- and/or retrocerebellar 22, foramen of Magendie 3, quadrigeminal cistern 5, pontocerebellar 1); 5 (7.5%) supra- and infratentorial. Macrocephaly was the presenting symptom in 48 cases (71.5%). Associated features were frequent: cranial asymmetry in 24; aqueductal stenosis in 10; agenesis of corpus callosum in 8; deficient cerebellar lobullation in 4; Chiari I malformation in 2; neurofibromatosis type 1 with dysgenetic zones of the brain in 1; arteriovenous malformation in 1. Diagnosis was made at autopsy in six cases in the days before computed tomography and magnetic resonance: three patients had a cyst in the supra- and retrocerebellar midline; two had a cyst in the quadrigeminal cistern and the sixth was a rare case with the cyst passing from the posterior fossa to the left lateral ventricle through a hole in the basal surface of the brain. Small and some middle-sized cysts were not treated. Big and some middle-sized cysts were usually treated by cysto- and/or ventriculoperitoneal shunts. Arachnoidal cysts of the quadrigeminal cistern usually present with aqueductal stenosis and have to be treated with ventriculoperitoneal shunt. Craniotomy and fenestration of the cysts were performed in some cases with good results. The average mental level of these children is usually moderately low.

Arachnoid Cysts↗
PubMed1989

[Acquired aphasia syndrome with epilepsy (Landau-Kleffner syndrome) secondary to cerebral arteritis. 4 cases].

We report four cases of acquired aphasia with epilepsy syndrome or Landau-Kleffner syndrome in three boys and one girl who were previously in good health. Along with the clinical picture, we describe cerebral arteriographic findings, which consisted of obstructive arteriopathy of small and medium size vessels in delimited areas. A specific cause of the arteriopathy was not found in any case. We discuss the treatment (corticosteroids and calcium antagonists) and the course of the patients. In front of the possibility of being isolated cases, we discuss the interest of performing cerebral angiographic studies in patients with Landau-Kleffner syndrome in initial stage in order to confirm the consistence of these findings and the adequate treatment.

Aphasia↗
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↗
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↗