[Computerized cerebral tomography in tuberous sclerosis. Study of 3 patients]. / Tomografía computarizada cerebral en la esclerosis tuberosa. Estudio de tres pacientes.

The findings on computerized axial tomography of the brain in three patients with tuberous sclerosis are reported. Numerous intracranial calcified nodules varying in size from a few millimeters to one centimeter, located preferentially below the ependyma of the lateral ventricles and determining filling defects in its lumen were found in all cases. Other calcified lesions were found in a subcortical location. One patient presented areas of low density throughout the hemispheric white matter, and another showed ventricular dilatation of the ventricles and basal cisternas. Computerized axial tomography is useful in the evaluation of patients with tuberous sclerosis because of its early demonstration of the characteristic intracranial lesions and detection of complications such as calcification of basal and cerebellar ganglia, hydrocephalus, and development of gliomas. Low density areas may correspond to foci of demyelinization. Furthermore, computerized axial tomography allows the demonstration of cerebral tuberosities in asymptomatic relatives, thus offsetting the inconveniences of pneumoencephalography.

[Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations]. / Variabilidad fenotípica de la deleción 22q11.2. Análisis de 16 observaciones con referencia especial a las manifestaciones neurológicas.

INTRODUCTION: The microdeletion 22q11.2 affects 1/4000 live births and constitutes the most frequent interstitial chromosomal alteration in humans. It is involved in a heterogeneous series of phenotypic expressions. AIMS: To determine the most important clinical characteristics in a series of patients with this genetic molecular disorder. PATIENTS AND METHODS: We conducted a retrospective study of 16 patients who had been diagnosed, by means of FISH or PCR, as having microdeletion 22q11.2, and the following data were evaluated in a protocolised manner: sex, age, family background, characteristics of the pregnancy, birth, neonatal and post-neonatal periods, clinical and semiological data, as well as the results from the complementary explorations carried out according to the predominant pathology. RESULTS: The age at which the diagnosis was made oscillated between newly born and 8 years, with a predominance of males over females in a ratio of 3.2/1. In all, 81% of patients presented neurological disorders. Brain malformations were seen in six, hypoplasia of the anguli oris muscle in five, congenital facial palsy in three which was associated with brain malformations in one patient, retarded neurodevelopment in six cases and neurogenic arthrogryposis in one. Other findings such as congenital heart disease (75%), skeletal disorders (37%), peculiar phenotypes (31%), nephrourological disorders (19%) and hypoacusis (19%) constitute significant manifestations of the process. Some of the most noteworthy occasional events include retarded height and weight development, hypocalcemia and cleft palate. In one case involving a child whose mother suffered from chronic alcoholism, there were both phenotypic traits of this entity and of foetal alcohol syndrome at the same time. In four of the patients the FISH technique did not detect the deletion, which was confirmed by a technique involving DNA amplification with PCR. CONCLUSIONS: The presence of central and peripheral neurological alterations, together with cardiac, skeletal, renal and auditory disorders was confirmed, as was the existence of neurodevelopmental retardation and a peculiar phenotype. Both the frequency and the kind of disorder coincided with what has been described earlier. A number of facts stand out owing to their novelty. These include the high incidence of asymmetric crying facies, the existence of data compatible with foetal alcohol syndrome in one of the patients with this clinical entity, and the association with neurogenic arthrogryposis in another, which are circumstances that suggest the possibility of a causal relation with the deletion 22q11.2. Using DNA amplification with PCR is seen to be of greater diagnostic efficacy than the FISH technique.