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Biomedical subjects

J M Prats

Publications and source records attributed to J M Prats.

At least 19 recordsLinked to original sources
PubMed2001

Multilocular hydrocephalus: ultrasound studies of origin and development.

Multilocular hydrocephalus is a complication of neonatal hydrocephalus. Its main feature is the presence of multiple cysts inside the ventricles, which requires a specific therapeutic approach. The case of a preterm infant with intracranial hemorrhage grade II-III and central nervous system infection is reported. The cysts developed at the subependymal layer in the posterior area of the patient's thalamus. Their growth and development were charted by ultrasound imaging for several weeks. These types of cysts may grow to occupy the totality of the lateral ventricles, isolating the temporal horns. Of all the reviewed pathogenic mechanisms, we support the hypothesis of an inflammatory vasculitis at the subependymal level, with the subsequent infarct giving rise to the cysts. The osmotic pressure within the cavities, rather than intraventricular fluid, would account for the enlargement of the cysts.

Cerebral Ventricles↗
PubMed2000

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.

Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen. Studies of metabolite excretion allowed us to categorize 43 GA I Spanish patients into two groups: group 1 (26 patients), those presenting with high excretion of both glutarate and 3-hydroxyglutarate, and group 2 (17 patients), those who might not be detected by routine urine organic acid analysis because glutarate might be normal and 3-hydroxyglutarate only slightly higher than controls. Single-strand conformation polymorphism (SSCP) screening and sequence analysis of the 11 exons and the corresponding intron boundaries of the GCDH gene allowed us to identify 13 novel and 10 previously described mutations. The most frequent mutations in group 1 were A293T and R402W with an allele frequency of 30% and 28%, respectively. These two mutations were also found in group 2, but always in heterozygosity, in particular in combination with mutations V400M or R227P. Interestingly, mutations V400M and R227P were only found in group 2, and at least one of these mutations was found in 11 of 15 unrelated alleles, accounting together for 53% of the mutant alleles in group 2. Therefore, it seems clear that two genetically and biochemically distinct groups of patients exist. The severity of the clinical phenotype seems to be closely linked to the development of encephalopathic crises rather than to residual enzyme activity or genotype. Comparison of GCDH protein with other acyl-CoA dehydrogenases (whose x-ray crystal structure has been determined) reveals that most of the mutations identified in GCDH protein seem to affect folding and tetramerization, as has been described for a number of mutations affecting mitochondrial beta-oxidation acyl-CoA dehydrogenases.

Alleles↗
PubMed1999

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy. HNA is characterised by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by non-specific infections, immunisations or parturition. Mild dysmorphic features and short stature are present in some HNA families, but absolute co-segregation with HNA has not been described. To refine the previously described HNA locus on chromosome 17q25, we performed a genetic linkage study in five HNA families with different geographic origins. Significant linkage was obtained with chromosome 17q24-q25 short tandem repeat (STR) markers in three HNA families and suggestive linkage was found in the other two HNA families. Analysis of the informative recombinations in affected individuals allowed us to reduce the HNA linkage interval to a candidate region of 3.5 cM.

Brachial Plexus Neuritis↗
PubMed1999

Resolution of MRI abnormalities of the oculomotor nerve in childhood ophthalmoplegic migraine.

Ophthalmoplegic migraine is an uncommon disorder, usually starting in older childhood. Its physiopathology remains obscure and diagnosis is reliant on clinical grounds and exclusion of other disorders. We report four cases of childhood ophthalmoplegic migraine, one of them starting in infancy. Association with other types of migraine is common. Two of the three patients studied by magnetic resonance imaging (MRI) showed enhancement and enlargement of the cisternal portion of the oculomotor nerve, which spontaneously resolved after 2 and 4 years, respectively. Persistence of clinical recurrences was associated with long-lasting presence of the MRI finding, and possibly with mild sequelae. These radiological abnormalities suggest a common physiopathological mechanism with other inflammatory diseases, except for a benign evolution which, added to its specific anatomic site, seems to be the only neuroradiological marker, besides normality, in ophthalmoplegic migraine. The very long potential duration of MRI changes and the scarcity of clinical episodes make feasible its incident discovery once the migraine attack has become a remote memory.

Arm↗
PubMed1998

Reversible endocrine dysfunction and pituitary stalk enlargement.

We report 4 patients (3 of which were children) with diabetes insipidus and different degrees of hypopituitarism in whom a pituitary stalk enlargement was disclosed on imaging techniques, and in whom radiological and functional recovery was observed during follow-up. Pituitary substitution therapy with desmopressin, thyroxine, hydrocortisone, growth hormone and/or oral contraceptives was prescribed. During follow-up, regression of the stalk lesion was seen which was spontaneous in 2 cases, following a short course of corticosteroids in another and an empirical trial of tuberculostatic drugs in the fourth. A partial recovery of pituitary function was also observed. These cases illustrate that pituitary stalk enlargement and associated hypopituitarism may be reversible; however, this morphological and functional recovery has rarely been described in adults and has not been previously reported in children.

Adolescent↗
PubMed1998

Antiepileptic drugs and atypical evolution of idiopathic partial epilepsy.

Six patients with classic benign epilepsy of childhood with centrotemporal spikes, treated with carbamazepine (four patients) or sodium valproate (two patients) evolved atypically because the epileptic disorder, diffusion of the electroencephalographic (EEG) discharges during wakefulness, and continuous spike-and-wave during slow sleep associated with severe neuropsychologic abnormalities worsened. These features appeared after a seizure-free interval varying for 2 weeks to 1 year 6 months after initiating therapy and remitted when the previous anticonvulsant drug was discontinued and either substituted with another drug or the patient was left without any treatment. Once the initial antiepileptic drug was discontinued and after a period roughly proportional to the duration of the clinical-EEG complication, the evolution of the patients' seizures was not unusual for this type of epilepsy, with patients eventually becoming free of both seizures and medication and reaching normal school achievement. The clinical complications cannot be attributed solely to the drugs. It must also be related to the underlying substract (i.e., the specific epileptic syndrome involved) that in some patients becomes susceptible to atypical evolution when either product is administered.

Anticonvulsants↗
PubMed1998

[Response to prophylactic treatment of benign headache in children].

INTRODUCTION: Common childhood headaches seldom require prophylactic treatment which, nevertheless, is quite often unsatisfactory. OBJECTIVE: To study drug and non-drug related factors that may influence the therapeutic response. MATERIAL AND METHODS: A four-month follow-up study of all patients attended during a year at the neuropediatric, outpatient hospital-based clinic, with > or = 2 monthly migraine without aura attacks, > or = 10 tension-type headaches, or both types of headaches. Patients were randomized to be treated on an open basis, placebo controlled, with flunarizine or piracetam. Headache frequency was evaluated according to treatment and patients' basal characteristics. RESULTS: 98 patients studied (56 migraine without aura, 24 tension-type headache, 18 mixed). 33% dropped out; they were school underachievers more frequently than those that completed the protocol. Of those completing the protocol and treated with placebo as the first choice of therapy, 27% reported total remission of symptomatology; those not remitting with placebo were high achievers at school significatively more frequently. At the end of the trial, 43% of the initially randomized patients still complained of headaches, regardless of treatment, showing a seasonal relationship. CONCLUSIONS: Prophylaxis of benign childhood headaches is needed in less than half of those reporting a high headache frequency; school achievement should be taken into consideration as another clue to compliance and headache persistence. On a short-term basis only the seasonal influence and the placebo effect can be held responsible for amelioration of symptomatology.

Calcium Channel Blockers↗
PubMed1998

[Therapeutic failure, treatment and non-treatment of childhood epilepsy].

INTRODUCTION: The classification of epileptic syndromes defines the prognosis and offers some orientation about treatment in childhood epilepsy. OBJECTIVE: To study the medical therapy according to epileptic syndromes in the everyday practice of a hospital based outpatient neuropediatric clinic. METHODS: Survey of the database using an algorithm to define therapeutic failure, treatment and spontaneous evolution, according to syndrome and drug, of all epileptic patients attended at the clinic during 1966. RESULTS: 465 patients with: monotherapy 38%, politherapy 20%, therapeutic success (follow-up after drug discontinuation) 21%, spontaneous evolution 22% (54% of partial idiopathic epilepsies). Most used antiepileptic drugs (VPA > CBZ > VGB > CLB > PB > PHT > LTG > ESM > PRM > GBT) are those with lowest failure rate and highest percentage of patients on monotherapy. Percentages of monotherapy in treated patients and of previous failure out of total number of patients are: idiopathic partial epilepsies: 85% and 10%; remote symptomatic partial: 58% and 43%; cryptogenic partial: 53% and 50%; idiopathic generalized: 83% and 25%; symptomatic-cryptogenic generalized: 34% and 63%; undetermined: 45% and 43%. CONCLUSIONS: Screening of the database serves as a quality control but the use of an algorithm offers only an approximation to reality. In idiopathic partial epilepsy treatment can be avoided in half of the patients and failure is lowest for VPA and CBZ. In idiopathic generalized epilepsies VPA predominance is almost absolute with a very low failure rate. In all other epileptic syndromes the therapeutic failure rate is about 50% regardless of drug, except for VPA which shows a moderately better outcome.

Adolescent↗
PubMed1997

[Clinical workload at the outpatient neuropediatric clinic].

OBJECTIVE: To obtain rapidly the basic clinical information from individual patients and about the total practice in a hospital based neuropediatric out patient clinic. MATERIAL AND METHODS: A database file was designed, performed by the medical staff during or immediately after the patients visit. A descriptive study of data obtained through 1995 is reported. RESULTS: 1,226 patients visited the clinic during the whole year, generating 2,315 visits. The percentage of new patients is larger than that of other pediatric specialties, except for pediatric cardiology, but it is similar to that reported by adult neurological patients. Age distribution show a bimodal curve with a peak during the first year of age and a second one at 11 years. Geographic distribution is similar to that of other outpatient clinics of our center. The most frequent motive, annually, to consult was headache followed by suspected epilepsy. The most frequent diagnoses in new patients were epilepsy, migraine and tension type headaches. Prevalence of diagnosis in the total number of patients visited showed the highest frequency of epilepsy, followed by mental retardation and cerebral palsy. EEG was study most often performed, and 46% of total number of patients had neuroimaging studies. The pharmacological agent used in the largest number of patients was sodium valproate while phenobarbital was the product most often discontinued. Non antiepileptic drugs were used in a comparative small number of cases. The percentage of patients discharged for chronic and severe diseases was 20% annually, while it amounted to 40% in new patients. CONCLUSIONS: This type of information allows doctors to plan resources needed at the clinic and by the patients, but it is not appropriate for other tasks belonging to the management area, since it would require a larger infrastructure than the one usually provided at the outpatient clinic.

Adolescent↗
PubMed1993

Benign paroxysmal tonic upgaze of childhood with ataxia. A neuro-ophthalmological syndrome of familial origin?

A new neuro-ophthalmological syndrome has been described recently, consisting of paroxysmal tonic upward deviation of the eyes with ataxia. Episodes occur daily and are always relieved by sleep. Onset is usually under one year of age and the symptoms gradually disappear during childhood. The authors describe three new patients in whom an autosomal dominant mode of inheritance was a constant finding, as well as clumsiness and delayed acquisition of independent gait. Treatment with levodopa was of clear benefit.

Age Factors↗
PubMed1992

Operculum syndrome in childhood: a rare cause of persistent speech disturbance.

An infant is described who developed operculum syndrome during an acute encephalitic illness. Presenting symptoms were cortical pseudobulbar palsy and focal seizures of facial origin. Persistent mutism--with normal language comprehension and orofacial motor disturbance--were the main neurological sequelae. Similarities between this case and other permanent or transient causes of cortical pseudobulbar palsy are discussed, as well as the possible relationship with certain types of childhood language disorders.

Brain Damage, Chronic↗
PubMed1991

Infantile spasms treated with high doses of sodium valproate: initial response and follow-up.

A long-term follow-up study of 42 patients with West syndrome treated with high doses of sodium valproate is presented. Control of the hypsarrhythmic EEG pattern was achieved after two weeks for over three-quarters of the patients with sodium valproate doses of 100 to 300mg/kg/day. Recurrence of hypsarrhythmia was observed most often in patients treated with doses lower than 200mg/kg/day. Other types of seizures appeared in half of the patients followed beyond two years of age. Monotherapy throughout follow-up was possible for 30 patients. Autism occurred in only one infant, and 12 achieved normal mental status. The most common side-effects were asymptomatic thrombocytopenia, vomiting and mild somnolence. Hepatic enzymes were not altered.

Cerebral Cortex↗