Biomedical subjects
Publications and source records attributed to R Simón.
Numb chin syndrome, which consists of focal sensory loss and paresthesias of the chin, occurs with malignant diseases. We report a patient with numb chin syndrome, caused by Burkitt's lymphoma, occurring as the initial manifestation of HIV infection.
The Coulter FACULTY knowledge-based systems, Professor Petrushka for peripheral blood interpretation, Professor Fidelio for flow cytometry immunophenotyping and Professor Belmonte for bone marrow reporting, have been installed in several hospitals in Spain, Portugal and the United Kingdom. In Spain and Portugal, the systems are part of the IZASA-Coulter CITOTECA workstation, which includes a video camera for capturing microscopic images and a networkable laboratory information system supporting color reports. At the Royal Hospitals Trust (St. Bartholomew's Hospital and The Royal London Hospital, London, UK), networked workstations are available and the system is used daily to generate bone marrow reports in the hematology laboratories. There have been considerable benefits from adopting Coulter FACULTY for bone marrow reporting, including faster turnaround time, improved quality of the reports and cost savings.
INTRODUCTION: Spontaneous or non-traumatic intracranial haemorrhages seen in children of under 15 years old are most frequently due to cerebral vascular malformations, followed at a considerable distance by blood disorders, vasculopathies, tumours and the complications of radio-therapy. OBJECTIVE: To present the cases of spontaneous and non-traumatic cerebral haemorrhage seen at our hospital. MATERIAL AND METHODS: We reviewed all the paediatric cases of spontaneous cerebral haemorrhage diagnosed in our hospital over the previous sixteen years, excluding bleeding in the neonatal period. Computerized tomography was done in all cases, study of the cerebrospinal fluid, angiography and/or magnetic resonance in some cases. RESULTS: We selected 44 patients, of who the aetiology could be determined in 30. Of these, 20 cases were due to vascular malformations, 7 were associated with haematological disorders, 2 with cerebral tumours and one case with meningococcal sepsis. The commonest form of presentation was that of an acute intracranial hypertension syndrome, also showing focal deficits, partial crises and meningism. CONCLUSIONS: The commonest cause of spontaneous intracranial haemorrhage in children is due to rupture of a vascular malformation, namely an arterio-venous malformation. Angiography and/or magnetic resonance are the techniques of choice for diagnosis. The various causes of disorders of haemostasia also are important in giving rise to intracranial bleeding.
Miller Fisher syndrome (MFS) is characterized by the triad of ataxia, areflexia and ophthalmoplegia. It is exceptional for infants to be involved. Two infants, aged 11 and 16 months, developed acute-onset MFS. Both patients had prodromal upper respiratory tract infection. Pupillary responses to light, strength and sensation modalities were preserved. One patient was lethargic for a day; the electroencephalogram disclosed slightly slow background activity that later became normal. The other received high-dose intravenous immunoglobulins for 5 consecutive days starting at once on admission; within the next 7 days he became asymptomatic. Increased cerebrospinal fluid protein content and delayed nerve conduction studies with prolonged distal latencies were encountered in both patients.
Explore the source record for details and available documents.
We present the results of treatment with vigabatrin in the polytherapy of resistant infantile epilepsy. A retrospective review of 55 children with resistant epilepsy aged between 2 months and 15 years was carried out between January 1992 and January 1995. Semiologically, the crises treated were simple partial crises (CPS), complex partial crises (CPC), West's syndrome, the Lennox-Gastaut syndrome and polymorphic crises. The efficacy of the drug (defined as a 50% or more reduction in crises), secondary effects and the reduction in the number of drugs necessary were evaluated. 60% of the children studied improved. 20% became completely free of crises. 34% remained unchanged and 3% became worse. In West's syndrome 100% responded satisfactorily, as did 80% of the cases of partial crises, but only 40% of those with Lennox's syndrome responded. Generalized tonic-clonic crises did not respond, and myoclonic crises became worse. Aetiologically, there was greater improvement in the symptomic cases than in the essential cases, the improvement being 70% while 5 patients with tuberose sclerosis responded particularly well. Medication was stopped in one case because of side-effects, due to a psychiatric disturbance, and in another case vigabatrin caused transitory side-effects. In 10% of the subjects the initial efficacy wore off around 6 months later. We have shown the usefulness of vigabatrin in the polytherapy of infantile epilepsy, which is resistant to conventional epileptic drugs, mainly in simple and complex partial crises and in West's syndrome. Its minimal side-effects and the favourable response in over 50% of cases make it an extremely useful drug.
Skin biopsy is the method of choice for the diagnosis of Lafora's disease. The presence of PAS (+) inclusions characteristic of Lafora's disease has been thought to be more evident in aprocrine glands of the axillary skin than in the duct cells of the eccrine glands. We describe 4 patients with Lafora's disease diagnosed by axilla skin biopsy, confirming the usefulness of this procedure.
Explore the source record for details and available documents.
We present 11 patients with congenital fiber type disproportion suggesting the existence of two different clinical groups. The first group not associated with other diseases, presents a uniform clinical picture and a generally good prognosis, although the patients with severe respiratory involvement can die. The second group includes the cases in which CFTD is associated with other congenital diseases such as Lowe's Syndrome, Möbius' Syndrome, hypothyroidism and hydrocephalus. In this group the clinical presentation and prognosis is that of the associated disease added to that of CFTD. The frequent association of CFTD with other congenital diseases suggests that CFTD may not be a specific myopathy but a histological abnormality due to different pathogenic insults which interfere with the normal growth and maturation of the muscle fibres.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Two children with idiopathic pulmonary hemosiderosis are described. Both of them presented initially a clinical picture of recurring iron deficiency anemia, before pulmonary symptoms and signs made it possible to establish correct diagnosis. In one case diagnosis was considered only when an overwhelming pulmonary hemorrhage occurred, leading to the patient's death. At necropsy, areas of fresh alveolar hemorrhage and hemosiderin loaded macrophages were found, as well as moderate to severe interstitial fibrosis and hyperplastic alveolar cells. There was not disruption of the basal alveolocapillary membrane.
Explore the source record for details and available documents.
A case of retroperitoneal inflammatory fibrous histiocytoma associated to a marked granulocytic blood reaction and high eosinophilic count is reported. The paraneoplastic nature of the haematological findings and their probable prognostic role are discussed. Ultrastructurally the tumor does not differ significantly from "non inflammatory" fibroxanthosarcomas.