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1.
Rom J Morphol Embryol ; 63(1): 181-189, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36074682

RESUMO

INTRODUCTION: Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition characterized by cutaneous, cerebral, and other multiorgan involvement. Aneurysms due to TSC pathogenic mechanism are rarely present, mainly aortic, renal, or intracranial and very few associated with peripheral circulation. A TSC patient, aged 31 years, who developed brachial and subclavian arteries aneurysms is presented. The question of a random association of the aneurysms with TSC versus aneurysms within pathogenic released mammalian target of rapamycin (mTOR) pathway effect was raised. CASE PRESENTATION: Patient's file, available from the age of six months, was analyzed for demonstration of the TSC diagnosis. Patient was examined, and cerebral magnetic resonance imaging (MRI) was repeated. Surgery and angiographic reports and images were reviewed. Pathology of the aneurysmal wall available from surgery was reexamined and special stainings and immunohistochemistry markers were applied. Genetic characterization of the patient was performed. Definite TSC was diagnosed based on major criteria [ungual fibromas, shagreen patch, cortical tubers, subependymal nodules (SENs), subependymal giant cell astrocytoma (SEGA)], minor criteria (confetti skin lesions, dental enamel pits, gingival fibromas), genetic result showing heterozygous variant in exon 8 of TSC1 gene (c.733C>T-p.Arg245*). Pathology analysis revealed markedly thickened aneurysmal wall due to smooth muscle cells (SMCs) proliferation in media and neoformation vessels with similar characteristics in the aneurysmal wall. DISCUSSIONS AND CONCLUSIONS: This is a rare case with aneurysms related to TSC, with an exceptional peripheral localization. Pathology exam is the key investigation in demonstrating the TSC-related pathogenic mechanism. A literature review showed 73 TSC cases presenting aneurysms published until now.


Assuntos
Aneurisma , Astrocitoma , Fibroma , Esclerose Tuberosa , Aneurisma/complicações , Fibroma/complicações , Humanos , Artéria Subclávia/patologia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia
2.
Rom J Morphol Embryol ; 56(3): 1191-4, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26662158

RESUMO

Aspiration pneumonia is a frequent cause of morbidity and mortality in children with neurological deficits. We present the case of a 4-month-old infant from the Foster Care Center, with severe psychomotor retardation, blindness, and associated cardiac malformation, who was admitted to the Pediatrics Clinic of the Emergency County Hospital of Craiova, Romania, presenting aspiration pneumonia and moderate respiratory insufficiency. Under sustained, early instituted treatment, the evolution was towards death. The chest radiography and histopathological examination of the pulmonary tissue confirmed the diagnosis. The neurological impairment was not only a favoring factor for aspiration, through the deglutition disorders, but it was also an aggravating one, through the bacterial colonization of the lungs.


Assuntos
Doenças do Sistema Nervoso/etiologia , Pneumonia Aspirativa/complicações , Encéfalo/patologia , Fígado Gorduroso/complicações , Fígado Gorduroso/patologia , Humanos , Lactente , Recém-Nascido , Macrófagos/patologia , Masculino , Doenças do Sistema Nervoso/patologia , Pneumonia Aspirativa/diagnóstico por imagem , Pneumonia Aspirativa/patologia
3.
Rom J Morphol Embryol ; 56(3): 1201-4, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26662160

RESUMO

We present a case of brain abscess necroptically discovered in a 2-year-old child hospitalized in the Pediatrics Clinic of the "Filantropia" Municipal Hospital, Craiova, Romania. The family, with a poor financial situation, reports previous episodes that may be interpreted as comitial crises. Clinically speaking, he presents a height-weight hypertrophia, vitamin D loss rickets, and psychomotor retardation. At the objective examination, we found a weight of 10 500 g (!), second and third degree mesocardiac systolic beat and cardiomegaly in the thorax-cardiac-pulmonary X-ray examination. Despite the intensive treatment, death occurs few hours after hospitalization. During the autopsy, there is observed a partial dehiscence of the cranial arch sutures, with a 6/5 cm ovalary cavity in the parietal lobe, containing approximately 200 mL of yellow-green serous liquid, with uneven walls, but with no hemorrhagic or puss infiltrates. The heart is enlarged (in comparison to the general somatic development) of 9/7/4 cm, without any cardiac malformations. The microscopic examination showed degenerative neuronal and ischemic lesions on the left-brain hemisphere. Comparing to the data from specialty literature, we consider it as a yellow brain softening (according to Rokitansky's classification), most probably of an embolic cause.


Assuntos
Abscesso Encefálico/etiologia , Abscesso Encefálico/patologia , Cérebro/patologia , Criança , Humanos , Leucomalácia Periventricular/complicações , Leucomalácia Periventricular/patologia , Masculino
4.
Rom J Morphol Embryol ; 56(2 Suppl): 843-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26429183

RESUMO

The precise prevalence of molluscum contagiosum (MC) is still unknown. The pediatric studies showed a cumulative incidence of 17% in children less than 15 years, but there are no studies available for Romania. The papular skin lesions are generally less than 5 mm, but the immunocompromised patients may develop large uncommon lesions. The pediatric cases are located mostly on the limbs, trunk or the face. The lab investigations are not usually required because the clinical features are typical. A biopsy followed by a light microscopy may help in some cases. We are presenting the case of a 6-year-old boy suffering from MC since almost a year. When examined in our clinic, the child developed 2 to 4 mm dome-shaped flesh-colored papules with central umbilication on his trunk diagnosed as MC. The microscopic examination revealed bud-like proliferation of the epidermis, molluscum bodies and moderate chronic inflammation of the dermis. In about one month of treatment, all the lesions disappeared without other local or general complications.


Assuntos
Molusco Contagioso/diagnóstico , Molusco Contagioso/patologia , Pele/patologia , Biópsia , Criança , Eritema/patologia , Humanos , Inflamação , Masculino , Resultado do Tratamento
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