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Biomedical subjects

S Perelman

Publications and source records attributed to S Perelman.

8 recordsLinked to original sources
PubMed1996

[Lysinuric dibasic protein intolerance: characteristic aspects of bone marrow involvement].

BACKGROUND: The marrows of patients with lysinuric protein intolerance (LPI) are generally considered as normal, even though autoerythrophagocytosis has been observed in some of them. CASE REPORTS: Lysinuric protein intolerance was recognized in two 12 and 15-year-old brothers who had been diagnosed following an immuno-hematological investigation. Clinical history had been characterized by a neonatal macrophage activation syndrome (hepatosplenomegaly, pancytopenia, hypofibrinogenemia and hypertriglyceridemia). A putative diagnosis of familial lymphohistiocytosis had been ruled out because of unusual clinical and immunological course. Both brothers had displayed chronic aversion to high-protein foods, failure to thrive, osteoporosis and developmental delay. Metabolic investigations had revealed chronic hyperammonemia while cationic aminoaciduria (lysine, arginine and ornithine) was only present during L-citrulline supplementation. Bone marrow examinations had been performed during the neonatal period and during later metabolic investigations. They both displayed a peculiar red cell and granulocytes phagocytosis by histiocytes and granulocytes precursors. CONCLUSIONS: This aspect of bone marrow could be considered as a specific sign of LPI. This report suggests that appropriate metabolic investigations should be performed in any unexplained macrophage activation syndrome.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

[Lethargic form of acute intestinal intussusception in an infant].

BACKGROUND: Intussusception encephalopathy, a misleading form in which neurological symptoms are obvious, is classic but rarely described. CASE REPORT: A 21 month-old infant was admitted because he had suffered from fluctuating consciousness and apathy for a few hours. Vomiting occurred soon afterwards. Search for dehydration, meningitis, encephalitis, poisoning... was negative; the abdomen was tender leading to ultrasonography that showed a sausage-shaped tumor. The ileocolic intussusception was successfully reduced with a gas enema. CONCLUSION: A striking degree of lethargy associated with vomiting may overshadow to a considerable extent the classical intestinal manifestations. A possible endogenous opioid poisoning by massive secretion of endorphins during pain's paroxysm is one of the hypotheses explaining this type of presentation.

Acute Disease↗
PubMed1993

Lead encephalopathy mimicking a cerebellar tumor.

Encephalopathy is a rare but severe complication of lead poisoning, mainly due to cerebral edema. Usually diffuse, symptoms and signs are sometimes focal, suggesting a false diagnosis of tumor, particularly cerebellar tumor. We report such a case diagnosed by MR imaging in which early treatment for edema avoided neurosurgical exploration. Only six cases have been published since Biemond and Van Creveld's first report in 1939. Several data--clinical and experimental--providing specific involvement of cerebellum in lead poisoning are emphasized.

Cerebellar Diseases↗
PubMed1993

[Microangiopathic anemia following thrombopenic purpura].

BACKGROUND: Chronic relapsing microangiopathic hemolytic anemia is rare in children. This report describes a case associated with thrombocytopenia following idiopathic thrombocytopenic purpura. CASE REPORT: A 4 year-old girl was admitted for acute idiopathic thrombocytopenic purpura (platelet count: 12,000/mm3) without anemia or fragmented red cells. The patient was given intravenous gammaglobulins without success, followed by prednisone (2 mg/kg/day). The platelet count was normalized, but decreased when the treatment was discontinued. The patient developed acute intracranial hypertension at the age of 5 yr 8 mo, following two cerebral hematomas. The platelet count was 9,000/mm3. A second course of intravenous gammaglobulins and prednisone was unsuccessful, so a splenectomy was performed. One year later, the patient was admitted because of diffuse purpura, anemia and jaundice. Hematologic findings were: Hb 8.4 g/dl, reticulocytes 448,200/mm3, fragmented red cells 16%, platelets 15,000/mm3, WBC 22,400/mm3. Seroimmunologic investigation showed a high titer of antinuclear antibodies. Examination for viral etiology was negative. Intravenous gammaglobulins had a transient effect on platelets, reticulocytes and fragmented red cells. The patient was then given vincristine plus prednisone; they were only effective when high doses were used. A second intracerebral hemorrhage occurred when the patient was given low doses of drugs. After 3 other hematologic relapses, the vincristine was stopped without further complication. CONCLUSION: The criteria for systemic lupus erythematous were not satisfied, despite the presence of antinuclear antibodies. A congenital deficiency of an unidentified plasma factor that reverses microangiopathic hemolysis and thrombocytopenia was not demonstrated in this patient, who could not be given fresh frozen plasma.

Acute Disease↗
PubMed1992

Inheritance and wealth composition.

"This paper studies the effects of variables pertaining to alternative bequest motives on the composition of households' portfolio. It relies on a 1986 survey on the assets structure of 5,600 French households. The main conclusion is that bequest motives indeed influence the composition of households' wealth.... In general, however, for lack of data but also because households have mixed bequest motives, one cannot establish a clear relation between specific models of inheritance on the one hand and wealth pattern on the other hand."

Developed Countries↗
PubMed1992

[The association of pulmonary hemosiderosis and celiac disease. Apropos of a new case in a child].

A new case of pulmonary hemosiderosis with coeliac disease is reported. This is an extremely rare combination of which only nine instances have been published over the last 20 years. Three of the reported cases occurred in children. Apart from a marked predominance of males, the combination has no specific features. Firm evidence of a causal relationship between the two diseases is lacking but treatment with a gluten-free diet alone apparently had beneficial effects on the lung disease in two patients. Three pathogenic hypotheses are discussed herein: deposition of circulating immune complexes involving food allergens on the basement membrane of alveolar capillaries; reaction between antireticulin antibodies and an alveolar basement membrane antigen; or effect of adenovirus 12, a potential causative factor for celiac disease. Patients with idiopathic pulmonary hemosiderosis should routinely have tests for gluten intolerance, for instance a lactulose-mannitol intestinal permeability test. Lastly, other concomitant food allergies are reported.

Celiac Disease↗