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Biomedical subjects

P Sabouraud

Publications and source records attributed to P Sabouraud.

6 recordsLinked to original sources

[How to evaluate a child following a first seizure?].

Following a first epileptic phenomenon in a child, detailed history-taking, age at onset and complete clinical examination are essential. Previously experienced paroxysmal episodes may correspond to undiagnosed seizures. It is important to inquire about the existence of subjective sensations preceding or initiating attacks, about postictal phenomena such as confusion or drowsiness and about the circumstances of occurrence of the seizures. Clinical examination should look for any neurological signs, cutaneous stigmata or dysmorphic features. Parents should be asked about any recent changes in behaviour or school performances. Interictal, and eventually ictal, EEG data must be interpreted within the general neurological context. In the majority of cases, careful analysis of all the above mentioned data leads to a diagnostic hypothesis on the type(s) of seizures and, sometimes, on the epilepsy syndrome. Indications for further investigations, including MRI, will be discussed on the basis of a precise hypothesis. Treatment with antiepileptic drugs should not usually be started at the first seizure, with the exception of some epilepsy syndromes characterized by regular seizure relapse.

Brain↗

Use of chromosome painting for marker chromosome identification in two children with congenital disorders.

Identification of supernumerary de novo marker chromosomes was considered up to now as difficult and sometimes impossible with classical cytogenetical banding methods. The determination of their chromosomal origin is now easier with fluorescent in situ hybridisation techniques and enables an exact correlation between chromosomal aberration and phenotypic features to be established. The authors describe the use of chromosome painting with chromosome 13 and 18 Whole library DNA probe for identification of supernumerary markers in tow patients with congenital disorders. Cytogenetic examination in the first cave revealed a mosaicism with a ring chromosome 13 but clinical findings were different from the classical "ring 13 syndrome', and chromosome painting revealed in an extra--dicentric 13 chromosome (mos : 47, XX, -13, +r (13) +dic (13) / 46, XX, r (13) / 45, XX, -13 / 48, XX, -13, +r (13), (12) dic (13) / 47, XX, -13, + (2) r (13), R-banding pattern on prometaphases and chromosome painting in the second case confirmed the marker to be a 18 p isochromosome (47, XX, +i (18p)). The feasibility and the usefulness of chromosome painting in ascertainment of the possible genetic significance of markers is discussed.

Chromosome Banding↗

Utility of short-latency evoked potentials in the classification of progressive, early onset cerebellar ataxias.

In recent years, several authors have proposed new classifications of inherited ataxias, some of them being based on systematic clinical studies of large groups of patients. This methodic approach has led to the identification of new types of ataxias and helped the development of molecular biology research in these diseases. Up to now, nerve conduction velocity and evoked potential studies have not been considered in the classification of hereditary ataxias. We have studied the results of short latency evoked potentials in 102 patients affected by a early onset, progressive cerebellar ataxia. Based on the results of this study and a review of the literature on this subject, we will evaluate the utility of nerve conduction velocity and evoked potential recordings in the classification of this group of diseases.

Adult↗

[Cerebellar ataxia preceding cutaneous symptoms in chickenpox].

The authors describe a case of cerebellar ataxia developing 8 days before the exanthema of varicella. Evolution was quickly favorable. On the occasion of this rare observation, the pathophysiology of the neurological complications of varicella are discussed.

Cerebellar Ataxia↗