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J Narbona García

Publications and source records attributed to J Narbona García.

10 recordsLinked to original sources
PubMed1993

[Insulin resistance and clinical evolution in infantile myotonic dystrophy].

We present the results of a 13 year follow-up of seventeen children with myotonic dystrophy, with the aim of better understanding the progression of this disease. We want to emphasize two basic aspects; first, the detection of myotonia with the use of EMG during the first five years of life when the clinical profile is suggestive of the disease, previous reports have stated that this sign appears relatively late in the disease process, and secondly, we want to point out that more than 50% of these patients showed insulin-resistance starting from the sixth year of life. This aspect of the disease has been well described in adult patients, but is practically absent in the pediatric literature. Hyperinsulinemic subjects demonstrated an intellectual quotient significantly lower than those subjects with normal insulin levels (p < 0.01). Basal insulin levels also had a predictive value in relation to the rest of the points n the insulin curve. The changes in insulin resistance are discussed in relation to cellular membrane changes present in myotonic dystrophy.

Child↗
PubMed1993

[Chronologic study of signs of myocardiopathy in progressive muscular dystrophy].

In order to analyze the evolution of cardiomyopathy in progressive muscular dystrophies, thirty-three patients (17 with Duchenne type, 11 with Becker type and 5 with the autosomal recessive type dystrophy) were studied retrospectively. Cardiac and systemic follow-up every 3-6 months was made in 29 patients. The electrocardiogram was the first test that became altered, followed by the echocardiogram and thoracic radiograph and finally heart failure manifestations. There was a direct correlation between age and the appearance of abnormal cardiac tests. Electrocardiographic alterations, in patients who were less than 12.5 years of age, were significantly more frequent in the group with Duchenne dystrophy that in the no-Duchenne group. In regards to the appearance of the echocardiographic and radiographic abnormalities, there were no significant differences between the two groups. However, we have noticed a trend towards a more frequent and earlier presentation of these abnormalities in the Duchenne's muscular dystrophy than in the no-Duchenne group.

Cardiomyopathies↗
PubMed1993

[Gastroesophageal reflux in pediatric neurologic patients].

With the aim of evaluating the incidence of gastroesophageal reflux (GER) in neurologic pediatric patients with severe motor and/or psychiatric involvement, a retrospective study of 140 infants followed at the Neuropediatric Unit was realized. Forty-five patients (32.1%) had moderate to severe mental retardation (ms RR), 21 of these patients had associated tetraparetic cerebral palsy (T-CP). The rest of the infants presented variable degrees of neurologic involvement: 25 diplegic (D-CP), 27 hemiparetic (H-CP), 22 with slight mental retardation or borderline IQ without motor deficit (SMR), and 21 had attention deficit disorder with hyperactivity (ADD-H). The diagnosis of GER was based on clinical symptomatology and barium ingestion with fluoroscopy and/or esophagoscopy. GER was confirmed in 27 patients: 19 (90.5%) with T-CP, 6 (25%) with ms-MR and 2 (8%) with D-CP. The rest of the infants did not have GER. There was a very significant difference in the frequency of GER in the T-CP group with respect to the other groups (p < 0.001) and a significant difference in the ms-MR patients with respect to the other groups (p < 0.05). The treatment of GER was surgical in ten patients (37%), after failure of medical treatment in 8; exclusively medical treatment in 10 cases (37%) and postural and dietetic treatment in 7 (26%) patients. Good control of GER, resulting in an improvement in the quality of life, occurred in 90% of the patients treated surgically and only in 55% of the patients treated medically.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗
PubMed1992

[Alternating hemiplegia. Partial effectiveness of treatment with flunarizine].

A case of alternating hemiplegia in a young girl is presented. The partial benefits of treatment with a calcium antagonist Flunarizine in this patient and in those reported in literature are reviewed. The onset of the disease in this girl was at three months of age with several episodes that were diagnosed as seizures; afterwards she presented, besides, repeated attacks of hemiplegia involving both sides of her body in an alternating way each time with daily frequency and hours of days of duration accompanied of bad mood and irritability as well as autonomic disturbances, oculomotor abnormalities, acquired mental retardation and residual focal neurological abnormalities. After one year of treatment with a calcium-entry blocker: Flunarizine, there was a 30% reduction in the attacks frequency as well as in its severity and stop of the progression of mental retardation. So we report the consequence of precocious diagnosis and treatment of this not well known entity whose clinical signs resemble paroxistic vascular anomalies in the brainstem territory.

Child, Preschool↗
PubMed1987

[Asymmetric crying facies syndrome].

We report four cases with syndrome of asymmetric crying facies, analyzing particularly the etiology, embryology, and incidence of the congenital hypoplasia of depressor anguli oris muscle. In one of the cases, with multiple malformations, the patient had an abnormal karyotype, 47,XX, +i(18p). We stress the high incidence of associations with congenital malformations (eight fold the general population) and more specifically with congenital heart disease, musculoskeletal, and genito-urinary defects. The diagnosis of MDAO agenesis is basically clinic, being as differential diagnosis the paralysis of the 7th cranial nerve, defining it with electrophysiological techniques.

Abnormalities, Multiple↗
PubMedDate not supplied

[Functional cerebral lateralization: neurobiology and clinical aspects in childhood].

Anatomical and functional evidences of cerebral hemispheric asymmetries are reviewed in reference to fetal life, infancy and childhood. In general, left hemisphere deals with linguistic-sequenced-analytic-logic-deductive cognitive processing, whereas the right hemisphere is involved in spatial-simultaneous-inductive-intuitive tasks; attention and interactional functions predominate on the right hemisphere, too. The clinical and technological means to diagnose the functional lateralization in individual patients are discussed. A critical review is made of abnormal lateralizations and interhemispheric supplencies in various neuropsychiatric conditions of childhood: learning disabilities, epilepsy, attention deficit disorder, mental deficiency with chromosomopathies and infantile autism.

Attention↗