R Velazquez

Publications (2)1.58 Total impact

• Article: [Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation].

  I Pascual-Castroviejo, S I Pascual-Pascual, R Velazquez, A M W van den Ouweland, D J J Halley
  [show abstract] [hide abstract]
  ABSTRACT: We present a family with tuberous sclerosis complex type 1 (TSC1). The family is formed by six patients. Two sibs, female and male, both patients having minor signs of the disorder. The woman have two daughters, one of them with severe clinical and radiological features of TSC1, and the other who only has a small cutaneous acromic spot. The man has two sons, one with severe features of TSC1, and the other with cutaneous mini-lesions. DNA study of the two cousins, woman and man, with cutaneous mini-lesions, showed a mutation in the chromosome 9 (1749 del GA) (TSC1 ex 15) in both patients. No pathogenic mutation in the TSC2 gene was detected in the two cousins.
  Neurologia (Barcelona, Spain) 10/2006; 21(7):386-8. · 0.79 Impact Factor
• Article: [Glutaric aciduria type 1 with normal evolution: follow-up of one case until adult age].

  I Pascual-Castroviejo, S I Pascual-Pascual, B Merinero, M Ugarte, J M Garcia-Segura, J Viaño, R Velazquez
  [show abstract] [hide abstract]
  ABSTRACT: We present a patient of 20 years of age with glutaric aciduria type 1 (GA1) and normal psychomotor development. Her symptoms consisted of a few convulsions between 2.5 and 4.5 years of age. She was diagnosed at 9 years of age because of the typical alterations of GA1 that appeared in computed tomography and magnetic resonance (MR) imaging studies. Enzymatic activity in fibroblasts culture was nonexistent and glutarate excretion was elevated in the annual controls where this was investigated from the diagnosis of the disease so far. MR studies showed hyposignal in T1 of the subcortical white matter, severe dilatation of the Sylvian region and temporal fossa subarachnoid spaces, and hypoplasia of the subjacent cerebral parenchyma and of both temporal lobes. The corpus callosum and the surrounding zones appeared very enlarged and with signal changes. Spectroscopic MR showed signs of membrane instability and cellular impoverishment in subcortical white matter and basal ganglia and presence of lactic acid. Macrocephaly always maintained centiles over 98. The patient has no abnormal movements or motor disturbances, her behavior and intelligence being normal and she is able to follow studies of middle level.
  Neurologia (Barcelona, Spain) 06/2005; 20(4):189-93. · 0.79 Impact Factor