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Biomedical subjects

L Muntaner

Publications and source records attributed to L Muntaner.

5 recordsLinked to original sources

MRI of a family with focal abnormalities of gyration.

Focal abnormalities of gyration (FAG) are developmental disorders that may occur in isolated patients or, as in the case being reported, as part of a familial disorder. Analysis of individuals in a family spanning three generations was carried out using MRI. Abnormalities, present in all members of generations II and III, included focal cortical dysplasia (three patients), focal cortical infolding (two patients) and schizencephaly (one patient); associated minor anomalies, such as white matter abnormalities, were seen in the remaining three members of generations II and III. MRI recognition of FAG in the family being reported proved useful in defining their phenotypical expression and providing proper counselling for individual family members.

Adult↗

Hyperphosphatasemia: CT assessment.

Hyperphosphatasemia is a rare disorder of uncertain cause. A 39-year-old male exhibiting striking skeletal deformities consisting of enlargement of the skull, enlargement and bowing of the long bones, neurosensorial symptoms and elevated alkaline phosphatase is the subject of this report. In the past, the radiological workup has been limited to plain films. We advocate CT in the assessment of neurological signs and symptoms which may complicate this disease.

Adult↗

Imaging features of type-B Niemann-Pick disease.

We report two cases of a mild form of type-B Niemann-Pick disease manifesting as an adult-onset chronic non-neuropathic clinical picture. Femoral T1- and T2-weighted low-intensity non-enhancing coarse bone marrow pattern was evident on femoral MR associated with splenic hypodense nodule(s) on abdominal CT. The role of imaging is discussed in relation to current techniques of confirmation of this entity based on demonstration of lipid-laden cells within marrow aspirates (which are often sea-blue histiocytes) and sphingomyelinase assay of cultured skin fibroblasts.

Diagnosis, Differential↗

Radiologic features of Rhodococcus equi pneumonia in AIDS.

This report outlines the radiological features observed in three cases of Rhodococcus equi (R. equi) pneumonia in AIDS (acquired immunodeficiency syndrome) and reviews another 45 radiological reports published of this emerging opportunistic pneumonia in Human Immunodeficiency Virus (HIV) infected patients. The clinical signs in our three patients consisted in a subacute onset of respiratory symptoms and fever. A low lymphocyte count (< 200 cells/mm3), pulmonary infiltrates, and pleural effusion was present in all three cases. Cavitary pneumonia was observed in two patients, and pericardial effusion in another. In this series CD4 lymphocyte count < 200/mm3 was seen in 29 of the 48 patients (60.4%). All 48 patients had abnormal findings on chest radiographs. Abnormalities involved the upper lobes in 26 of the 48 patients (55%). Cavitation was reported in 37 of the 48 cases (77%). R. equi pneumonia may not be as the paucity of case reports suggest. Consequently, a cavitary pneumonia in HIV infected patients with a low CD4 lymphocyte count (< 200 mm3) with a subacute onset, an upper lobe predilection, and/or a poor response to conventional antibiotic therapy should be considered as suspect of R. equi infection.

Acquired Immunodeficiency Syndrome↗

[Urologic neoplasms in AIDS].

Report on 2 cases of urological neoplasia in HIV positive patients. The first one is a renal adenocarcinoma in a heroin-abuser patient, of a type we have only found mentioned in the literature in 4 other cases. The second case was a disseminated Kaposi's sarcoma, the first symptom being a scrotum impairment and the biopsy suggested the diagnosis. This is believed to be an interesting communication considering the increasing number of anti-HIV antibodies carriers seen in our Units.

Acquired Immunodeficiency Syndrome↗