RESUMO
Desmoplasia has been described in melanoma and Spitz naevus but not in giant congenital melanocytic naevus (GCMN). In melanoma desmoplasia is associated with a better survival. Four paediatric patients with hard, ligneous, progressively hypopigmented and alopecic GCMN were seen among 143 cases of GCMN at the Department of Dermatology of the National Institute of Paediatrics, Mexico City. Clinically, induration was progressive in three patients and regressive in one. Pigmentation was regressive in all. Histopathologically, all four patients showed intense dermal fibrosis, scarce naevus cells, and hypotrophic or absent hair follicles. Follow-up and serial biopsies in three patients documented the progressive nature of fibrosis and naevus cell depletion. No evidence of malignant transformation was found. Naevus cell depletion resulted in pigment loss and may have reduced the risk of malignant transformation. Although the cause of fibrosis is unknown, the possibility of an immune reaction to naevus cells is postulated.
Assuntos
Nevo Pigmentado/congênito , Neoplasias Cutâneas/congênito , Criança , Feminino , Humanos , Lactente , Masculino , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologiaRESUMO
Liver fibrocystic disease (LFCD), characterized by dilatation of the intrahepatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel syndrome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndrome. We report two cases of LFCD and polydactyly with features similar, but not diagnostic of, BBS. Patient 1 was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis. Patient 2 was a male neonate with LFCD and polydactyly. Their manifestations could not be diagnosed as any of the previous mentioned entities. Difficulties in the early diagnosis of BBS have been previously reported and this could explain the clinical variability and heterogeneity of manifestations at the time of diagnosis. On the other hand, the existence of liver abnormalities in association with BBS has been previously described, but is rare. Our patients' malformations might represent a new entity where autosomal recessive inheritance is probable, but other patterns cannot be ruled out.
Assuntos
Cirrose Hepática/diagnóstico , Polidactilia , Síndrome de Bardet-Biedl/classificação , Doença de Caroli/classificação , Genes Recessivos , Humanos , Lactente , Recém-Nascido , Fígado/química , Fígado/patologia , Cirrose Hepática/classificação , Cirrose Hepática/genética , Masculino , Fenótipo , Polidactilia/genética , SíndromeRESUMO
We reviewed the histopathology of 13 cases of Kasabach-Merrit Syndrome (KMS). In 4 (31%) cases the predominant morphology was that of a tufted angioma (TA). Six (46%) cases were Kaposiform hemangioendotheliomas (KHE), and 3 (23%) cases showed an infantile (juvenile) hemangioma only. Immunostaining for CD34 and actin (HHF-35) was helpful in defining these types of hemangiomas. The TA was characterized by a proliferation of endothelial cells positive for CD34 with a minimal component of actin-positive cells. KHE showed a paucity of immunoreactive cells; only the luminal endothelial cells were positive for CD34. In three cases with the morphology of infantile hemangiomas, actin-positive cells outnumbered the CD34-positive cells. Our findings confirm the observation that the underlying vascular lesion in KMS is usually not an infantile hemangioma as was originally thought, but variants of hemangiomas such as TA and KHE (77% of 13 KMS cases). Infantile hemangioma was the phenotypic substrate of KMS in only 3 of 13 cases.
Assuntos
Hemangioma Capilar/patologia , Neoplasias Cutâneas/patologia , Trombocitopenia/patologia , Actinas/análise , Antígenos CD34/análise , Divisão Celular , Endotélio Vascular/química , Endotélio Vascular/patologia , Feminino , Hemangioma Capilar/química , Hemangioma Capilar/congênito , Humanos , Imuno-Histoquímica , Lactente , Recém-Nascido , Masculino , Pericitos/metabolismo , Pericitos/patologia , Neoplasias Cutâneas/química , Neoplasias Cutâneas/congênito , Síndrome , Trombocitopenia/congênitoAssuntos
Febre de Causa Desconhecida/etiologia , Hepatomegalia/etiologia , Esplenomegalia/etiologia , Tuberculose Miliar/complicações , Infecções por Citomegalovirus/complicações , Hepatomegalia/patologia , Humanos , Recém-Nascido , Masculino , Esplenomegalia/patologia , Tuberculose Miliar/congênito , Tuberculose Miliar/patologiaRESUMO
The authors present a defense of postmortem clinical anatomy sessions, which contributed enormously to the development of clinical medicine but which today draw little interest in medical studies. Nevertheless, the sessions still provide an unrivalled exercise in diagnosis for medical students and an excellent method of continuing education for practicing professionals. Autopsies make it possible to confirm or correct clinical diagnoses, including those obtained through highly complex technological procedures; they contribute to the discovery of new diseases and other abnormalities; they promote research; they provide reliable statistics on morbidity and mortality; they produce useful genetic information; they facilitate interdisciplinary discussion and knowledge exchange; and they can serve as an indicator of the quality of medical care. The authors recommend reviving the high academic standards of postmortem clinical anatomy sessions and urge professionals in health institutions to contribute as much as possible to the continuation and improvement of these sessions.
Assuntos
Anatomia , Autopsia , Patologia Clínica , Previsões , Humanos , MéxicoRESUMO
Children with congenital hypothyroidism are prone to die unexpectedly. In order to test this hypothesis, the primary and contributing causes of death were studied in a case series of sixteen consecutive children coming to autopsy. Four patients with absent thyroid died undiagnosed and untreated. The remaining twelve cases had documented hypothyroidism with low T3 and T4 levels. Diagnosis was established after the age of two months. Nine of the sixteen cases died unexpectedly, three while in the hospital and six at home. Autopsy findings suggested bronchoaspiration in five and heart failure in four. The remaining seven cases died under predictable circumstances with serious infections. Children with congenital hypothyroidism with delayed treatment may die unexpectedly as a result of the organic dysfunction caused by their primary disease.
Assuntos
Hipotireoidismo Congênito , Fatores Etários , Causas de Morte , Pré-Escolar , Morte Súbita/etiologia , Feminino , Humanos , Hipotireoidismo/mortalidade , Lactente , MasculinoRESUMO
Many inborn errors of metabolism have tissue changes that suggest or indicate a diagnosis on morphologic bases. This emphasizes the involvement of the pathologist in the study of tissues obtained by biopsy as part of the diagnostic workup of cases with clinical evidence suggesting a metabolic disorder. Some of these diseases involve proteins with enzymatic activity with a consequent backlog of precursor metabolites. If these metabolites are insoluble or compartmentalized in cells, they accumulate in tissues. The diagnosis in those cases rests on establishing the nature of the accumulated materials and their topographic distribution. In some storage diseases, the abnormal substance can be identified in the affected tissues by histochemistry or ultrastructure. Another group of inborn disorders of metabolism produce changes in subcellular organelles such as peroxisomes and mitochondria. A third group is expressed by rather unique tissue changes which strongly suggest the diagnosis of metabolic disease.
Assuntos
Doenças Metabólicas/diagnóstico , Patologia/métodos , Biomarcadores , Colesterol/metabolismo , Cristalização , Doença de Depósito de Glicogênio/diagnóstico , Glicolipídeos/metabolismo , Glicosaminoglicanos/metabolismo , Humanos , Doenças Metabólicas/patologia , Organelas/ultraestrutura , Pigmentos Biológicos/metabolismo , Esfingolipídeos/metabolismo , Triglicerídeos/metabolismoRESUMO
Five hundred and seventy primary central nervous system (CNS) tumors from the Department of Pathology at the National Institute of Pediatrics in Mexico City, collected from 1970 to 1989, were histologically reclassified in order to find out their relative incidence as well as their outstanding features. With this, we could establish a frame of reference for our local population, contributing to the epidemiological analysis of these entities. All the tumors were examined independently by two pathologists (C.R. and M.R.), using the classification of Rorke et al. Histological type, patient age and sex, and tumor location were analyzed. CNS tumors were the secondmost frequently encountered solid tumors, after lymphomas, and were increasing in incidence at a rate of 2.2 annually. Children in the age group 0-9 years were most often affected, and there was a predominance of male patients. Astrocytoma and medulloblastoma were the most common tumor types. The infratentorial region was the most frequent tumor location in the 2- to 9-year age group. By contrast, in the under 2-year-olds a supratentorial location was more frequent, and the incidence of germ cell tumors was proportionally high. In general, some histological types seemed to be associated with particular age groups. Although we found primitive neuroectodermal tumors to be the fifth most common at all ages (except for medulloblastoma), many other authors do not report a similar finding.
Assuntos
Neoplasias do Sistema Nervoso Central/epidemiologia , Comparação Transcultural , População Urbana/estatística & dados numéricos , Adolescente , Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/cirurgia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Incidência , Lactente , Masculino , México/epidemiologiaRESUMO
We report on six previously healthy children between nine months and nine years old, who suffered streptococcal faringoamigdalitis and cervical adenitis with scarlet fever and toxic shock syndrome; four of them died in a fulminant course and two survived. These patients behave similarly to others reported from United States of America, England and Australia, and in similar way these clinical entity could be due to bacterial pyrogenic exotoxins according to the clinical fulminant course.
Assuntos
Linfadenite/microbiologia , Faringite/microbiologia , Choque Séptico , Infecções Estreptocócicas , Streptococcus pyogenes , Tonsilite/microbiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , México , Pescoço , População UrbanaRESUMO
Liver biopsy in the diagnosis of the results of a retrospective analysis of percutaneous liver biopsy in the differential diagnosis of prolonged cholestasis in infancy are reported. We compare the clinical features, serum bilirubin levels, hepatobiliary scintigraphy and histology in two groups of patients. One group of 56 patients had extrahepatic biliary obstruction (biliary atresia: 42; choledochal cyst: 9; extrinsic obstruction: 4; Caroli's disease: 1). Another group of 54 children had intrahepatic cholestasis with patent biliary tract (hepatitis: 38; non-specific cholestasis: 14; cirrhosis: 2). The percutaneous liver biopsy was better than the other procedures to differentiate biliary atresia from hepatitis. We conclude that percutaneous liver biopsy should be carried out in children with prolonged cholestasis when other non-invasive procedures have not ruled out extrahepatic biliary obstruction and before any surgical exploration of the biliary tract is performed.
Assuntos
Atresia Biliar/diagnóstico , Biópsia por Agulha , Cisto do Colédoco/diagnóstico , Colestase Extra-Hepática/patologia , Colestase Intra-Hepática/patologia , Hepatite/diagnóstico , Atresia Biliar/complicações , Atresia Biliar/patologia , Biópsia , Cisto do Colédoco/complicações , Cisto do Colédoco/patologia , Colestase Extra-Hepática/etiologia , Colestase Intra-Hepática/etiologia , Diagnóstico Diferencial , Estudos de Avaliação como Assunto , Feminino , Hepatite/complicações , Hepatite/patologia , Humanos , Hiperbilirrubinemia/etiologia , Lactente , Recém-Nascido , Icterícia Neonatal/diagnóstico , Cirrose Hepática/complicações , Cirrose Hepática/diagnóstico , Cirrose Hepática/patologia , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de TempoRESUMO
The clinical, radiologic, and anatomic features of 53 patients with VATER association were reviewed. The vertebral, anorrectal, tracheoesophageal, radial, and renal congenital defects included in the association are similar to those described by other authors. In this report genital anomalies are very frequent and should be included as a diagnostic criteria for this association. Encephalic, facial, and cranial congenital defects are common and can affect prognosis; 17 patients have other malformations patterns, and they can belong to a different group of malformations.
Assuntos
Anormalidades Múltiplas/epidemiologia , Esôfago/anormalidades , Reto/anormalidades , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , SíndromeAssuntos
Hipertensão Portal/patologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Saúde Global , Humanos , Hipertensão Portal/epidemiologia , Hipertensão Portal/etiologia , Lactente , Recém-Nascido , Cirrose Hepática/complicações , Cirrose Hepática/congênito , Masculino , Veia Porta/patologia , Trombose/complicaçõesAssuntos
Hipertensão Portal/diagnóstico , Biópsia , Criança , Humanos , Fígado/patologia , PortografiaRESUMO
The case of a 3 month old child with severe combined sex linked immunodeficiency is presented. The diagnosis was well doccumented, during his life. The child presented as a case of mucocutaneous moniliasis resistant to treatment. There was a history of similar cases in the family; diagnosis was made at post-mortem in one cousin and death occurred at early age in all kins so affected. Blood marrow transplant was not feasible in our case because histocompatibility was lacking in the kins studied. Three units of transfer factor were given as well as hyperimmune plasma but the child died in respiratory failure. Autopsy demonstrated pulmonary infection by Pneumocystic carinii and generalized citomegalic inclussion virus infection; almost complete absence of immune tissue was also demonstrated.