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Biomedical subjects

I Pascual Castroviejo

Publications and source records attributed to I Pascual Castroviejo.

At least 19 recordsLinked to original sources
PubMed1999

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in the younger. The finding of increased levels of cis-5-tetradecenoic acid (C14:1) in plasma, severe hypocarnitinaemia and the absence of a pathological dicarboxylic aciduria in both sisters suggested a very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Reduced [1-(14)C]palmitate oxidation and deficient mitochondrial VLCAD activity in fibroblasts were found. Mutation analysis revealed compound heterozygosity for Asp365His and Arg410His changes. This late-onset, milder clinical presentation differs from the other two more severe infantile phenotypes described, since there is no hypoglycaemia or cardiac disease. Fatty acid oxidation defects should be investigated in all cases with rhabdomyolysis beginning in adolescence or early adulthood.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed1995

Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.

In this report, we describe seven new patients with a severe deficiency of glutaryl-CoA dehydrogenase in cultured skin fibroblasts. Three of the patients studied excreted high levels of glutaric acid. The remaining four patients presented a lack of significant glutaric aciduria. However, glutaric acid was found in increased levels in CSF. In both groups of patients, the urine glutaric acid levels were not related to their metabolic condition at the time of sampling. Hypocarnitinemia was a common finding. Some patients also showed defects on respiratory chain complexes in muscle biopsy. Only one patient has a normal psychomotor development. The other six patients are severely handicapped despite the attempts of different therapies. In patients with progressive neurological deterioration with dystonia and cerebellar signs associated with temporal lobe atrophy and bilateral basal ganglia damage on MRI, a glutaric aciduria type I (GA I) should always be investigated. The presence of glutaric acid in body fluids, especially in CSF, as well as plasma carnitine levels, should be determined. These procedures can lead to the diagnosis of glutaric aciduria type I.

Brain↗
PubMed1990

[The role of neonatal electroencephalography in the prognosis of the hypoxic-ischemic syndrome].

One hundred and thirty four newborn children of 37 weeks' gestation age or greater, with evidence of hypoxic-ischemic encephalopathy following perinatal asphyxia and surviving through the neonatal period were prospectively studied. The study involved evaluation of clinical outcome and the presence of epilepsy associated with the EEG pattern in the neonatal period. The results prove that the presence of a burst suppression EEG pattern and a hypoactive/flat EEG are negative prognostic criteria. In presence of a focal or multifocal pattern it is difficult to establish a clear prognostic criteria. Last, in newborn children with a normal EEG; with a low amplitude register; with frequencies slow or with bilateral sharp waves transients, a good prognosis can safely be established.

Asphyxia Neonatorum↗
PubMed1989

[Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency].

The transfer of purines through the hematoencephalic barrier is poorly understood. Allopurinol inhibits the enzyme xanthine oxidase and increases xanthine and hypoxanthine plasma levels, but it should not increase the cerebrospinal fluid (CSF) levels of these purines owing to the absence of xanthine oxidase in the central nervous system (CNS). In the present study we evaluated the plasma and CSF concentrations of uric acid, hypoxanthine, xanthine and inosine in the baseline state and after 7 days of allopurinol administration (5-10 mg/kg/24 h) in 4 patients with hypoxanthine phosphoribosyltransferase (HPRT) deficiency. The CSF uric acid level was positively correlated with its plasma level (r = 0.93, p less than 0.01). The CSF hypoxanthine and xanthine concentrations were, as a mean, 5 and 2 times higher, respectively, in patients with HPRT deficiency than in 4 control individuals. As hypoxanthine basically comes from adenine nucleotides, while xanthine comes from guanine nucleotides, this finding suggests that in the CNS of patients with HPRT deficiency there is a higher degradation level of adenine nucleotides than of guanine nucleotides. Allopurinol increased plasma concentration of hypoxanthine, xanthine and inosine 4, 10 and 3 times, respectively, in relation to baseline values. In CSF, the mean increase of hypoxanthine and xanthine concentration was 17.5 mumol and 7.7 mumol, respectively, whereas inosine level was unchanged. These results suggest that in HPRT deficiency hypoxanthine and xanthine may be transferred to the brain.

Adolescent↗
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↗
PubMed1988

[Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families].

Three patients with argininosuccinic aciduria are described. One of them is a neonatal form, with typical acute course and severe hyperammonemia who died on the sixth day of life. Postmortem analysis showed a marked plasmatic accumulation of argininosuccinic acid. Later on, red blood cell ASA-lyase levels demonstrated the heterozygosity of her parents and sisters. The two other patients are late onset forms and were diagnosed after detection of ASA and its anhydrides in plasma and urine. Levels of these metabolites did not correlate with levels of residual ASA-lyase in erythrocytes. Treatment with a hypoproteic diet supplemented with arginine has improved their clinical state. Carriers have been detected in both families. Importance of rapid diagnosis and treatment of hyperammonemic patients in order to prevent neurologic damage is emphasised.

Amino Acid Metabolism, Inborn Errors↗
PubMed1988

[Ischemic cerebrovascular accidents in childhood].

Authors review 53 children, aged 0 to 14 years, affected with cerebrovascular ischemic strokes. Largest aetiological groups were: a) congenital heart disease, 16 patients; b) arteritis of unknown cause, 11; c) idiopathic arterial occlusion without arteritis images on angiography, 7; d) moyamoya disease, 6; and d) local or systemic infections, 5. The mode of onset was as completed stroke in 72% and stroke in evolution in 24%. After acute stage 17.6% of patients presented other definitive strokes, 11.7% suffered only transient ischemic strokes (TIA), and 4% reversible ischemic neurologic deficits (RIND). Mean follow-up was 4.36 years, 9.8% of patients died, 11.8% recovered completely and 52.9% improved after initial stroke. Poor global evolution was associated with heart disease (p less than 0.05) and with onset of strokes before age 2 (p less than 0.05). Most important sequelae, besides motor impairment, were epilepsy (49%) and mental retardation (50% got less than IQ 80). Late epilepsy was associated with seizures at onset (p less than 0.05). Clinical factors of adverse mental development were: a) seizures at onset, b) late epilepsy and c) stroke before age 2. 66% of cases had two or more arterial lesions in the same or in different arterial trees. Therefore, embolic and arteritic factors probably play an important role in infancy and childhood stroke.

Adolescent↗