RESUMO

Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and cardiovascular disease. Sudden death is a recognized complication of WS; however, it is thought to be rare. The clinical features of 10 children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the literature. We suggest that sudden death is a more common complication than has been assumed previously. Pathologic findings on the seven autopsy cases implicate two anatomic abnormalities that predispose individuals with WS to sudden death: coronary artery stenosis and severe biventricular outflow tract obstruction. The mechanisms for sudden death for both anatomic subgroups include myocardial ischemia, decreased cardiac output, and arrhythmia. We believe these observations warrant the development of strategies for monitoring patients with WS in an attempt to identify those at increased risk of sudden death.

Assuntos

RESUMO

We are reporting the necropsy findings of 7 patients poisoned with diethylene glycol-contaminated propolis (a rubbery substance produced by bees from vegetal resins). Besides the well-known features of hydropic necrosis of centrolobular areas in the liver and renal tubules we found acute pancreatitis with diffuse enzymatic fat necrosis which in two of the cases was considered the secondary cause of death, and acute demyelinating lesions in the central and peripheral nervous system. Six out of the 7 cases showed glomerular PAS-positive arteriolar hyalinosis at the vascular pole, in two of them widely disseminated. Differing from the findings reported in ethylene glycol poisoning we could not find calcium oxalate crystals in any of the cases. The pancreatic, central and peripheral nervous system lesions as well as the glomerular arteriolar hyalinosis have not been previously described in the literature in relation with diethylene glycol poisoning.

Assuntos

RESUMO

We are reporting the necropsy findings of 7 patients poisoned with diethylene glycol-contaminated propolis (a rubbery substance produced by bees from vegetal resins). Besides the well-known features of hydropic necrosis of centrolobular areas in the liver and renal tubules we found acute pancreatitis with diffuse enzymatic fat necrosis which in two of the cases was considered the secondary cause of death, and acute demyelinating lesions in the central and peripheral nervous system. Six out of the 7 cases showed glomerular PAS-positive arteriolar hyalinosis at the vascular pole, in two of them widely disseminated. Differing from the findings reported in ethylene glycol poisoning we could not find calcium oxalate crystals in any of the cases. The pancreatic, central and peripheral nervous system lesions as well as the glomerular arteriolar hyalinosis have not been previously described in the literature in relation with diethylene glycol poisoning.

RESUMO

The medical records of 102 live-born children with a congenital diaphragmatic defect were reviewed to determine the frequency and nature of underlying chromosomal, genetic, and nongenetic patterns of malformation. Overall, 40 children (39%) had a major nonpulmonary malformation, and 14 of these children (14%) had a previously recognized pattern of malformation. A group of 18 children (18%) with cardiac anomalies had an increased mortality rate in comparison with those children without cardiac defects (72% vs 38%). The frequency and severity of nonpulmonary abnormalities in children with congenital diaphragmatic defects suggest that examination of affected children should include cardiac evaluation, a karyotype when the defect is one feature of a broader pattern of altered development, and a careful evaluation for minor anomalies, which may provide clues to an overall diagnosis.

Assuntos

RESUMO

To search for the sequential compromise of the spinal cord, nerves, and skeletal muscle in mice chronically infected with Trypanosoma cruzi, animals were subjected to electromyographic investigation, end-plate recordings, and histological studies at 7, 15, 37, 60, 90, 120, 180, 270, and 360 days postinfection. Electromyographic studies showed signs of motor unit remodeling as early as 15 days postinfection, when diminished duration and amplitude of motor unit potentials pointing to a primary muscle involvement were found. Thereafter, certain features of denervation, reinnervation, and primary muscle involvement were often found to coexist. Low miniature end-plate potentials with normal frequency and acetylcholine quantum content were found in end-plate recordings made at the phrenic-diaphragm in vitro. Double end-plate potentials were observed in most of the tested muscle fibers from day 90 postinfection. All these features suggest post-synaptic damage of the end-plate and the presence of reinnervation after day 90 postinfection. Histological studies disclosed inflammatory infiltrates consisting of lymphocytes and macrophages, with vasculitis as the main lesion in the hamstring muscles; intracellular parasites were seen in 25% of the cases. Neuropathic features, as expressed by type fiber grouping and grouped muscle fiber atrophy, were found. On nerve examination epineural, perineural, and endoneural vasculitis were seen. Digestion chambers and myelin ovoids (axonal degeneration) were observed. In teased fiber preparations, segmental internodal and paranodal demyelination and remyelination were found. The lumbar inflammatory spinal cord failed to show grey or white matter infiltrates. However, spinal roots and dorsal root ganglia were densely affected by inflammatory cells.

Assuntos

RESUMO

We present a male newborn (weight 4000 g) who died at age 12 days with a clinical history of persistent hypoglycemia and polycythemia. Clinical examination disclosed somatic hemihypertrophy (left side), a large umbilical hernia, macroglossia, and an intraabdominal tumor, consistent with the diagnosis of Beckwith-Wiedemann syndrome (EMG syndrome) and hemihypertrophy. Necropsy findings included visceromegaly (left kidney and adrenal), cytomegaly of the fetal cortex and nodular arrangement of both adrenals, diffuse nesidioblastosis and islet cell hyperplasia of the pancreas, and persistent glomerulogenesis. The tumor was a cystic pancreatoblastoma attached to the anterior surface of the pancreas. Three other examples of this association, congenital pancreatoblastoma and Beckwith-Wiedemann syndrome, all in males, are on record in the literature, indicating a strong relationship between both conditions.

Assuntos

RESUMO

The dysmorphologic evaluations of 56 children with torticollis and plagiocephaly were reviewed. Half of the children were referred because of the cranial asymmetry, and the remainder because of other structural defects or developmental delay. A unilateral epicanthal fold was present in 22 of 54 fully documented cases (41%). In 78% of these, the fold was ipsilateral to the area of occipital flatness. Because most infants are examined in an en face position, the presence of a unilateral epicanthal fold should prompt further investigation for a readily treatable torticollis.

Assuntos

RESUMO

Se presenta el resultado del estudio neuropatológico del sistema nervioso central de 6 recién-nacidos con necrosis cerebral masiva y su correlación clínico-patológica. Dos pacientes fallecieron dentro de la primera semana de vida. El cerebro de éstos se presentó como una masa edematosa sumamente friable, con necrosis difusa. En los otros 4, de mayor sobrevida, se halló una lesión de necrosis córtico-subcortical microcavitada (en "encaje" o "tela de araña") con astrocitosis reactiva, indicando una evolución del proceso anterior. También se hallaron zonas de hemorragia. Las causas de la hipoxia-isquemia fueron placentarias, obstétricas, pulmonares, maternas y médicas. Frecuentemente varias de éstas aparecieron combinadas. La semiología clínica y los datos humorales al ingreso fueron casi siempre claros indicadores de la severa y extensa alteración cerebral, a pesar de lo cual varios casos fueron mantenidos con "vida". Este estudio sugiere que deberían establecerse actitudes clínicas de tratamiento en los casos en que se realice el diagnóstico de muerte cerebral en este período de vida (AU)

Assuntos

RESUMO

Se presenta el resultado del estudio neuropatológico del sistema nervioso central de 6 recién-nacidos con necrosis cerebral masiva y su correlación clínico-patológica. Dos pacientes fallecieron dentro de la primera semana de vida. El cerebro de éstos se presentó como una masa edematosa sumamente friable, con necrosis difusa. En los otros 4, de mayor sobrevida, se halló una lesión de necrosis córtico-subcortical microcavitada (en "encaje" o "tela de araña") con astrocitosis reactiva, indicando una evolución del proceso anterior. También se hallaron zonas de hemorragia. Las causas de la hipoxia-isquemia fueron placentarias, obstétricas, pulmonares, maternas y médicas. Frecuentemente varias de éstas aparecieron combinadas. La semiología clínica y los datos humorales al ingreso fueron casi siempre claros indicadores de la severa y extensa alteración cerebral, a pesar de lo cual varios casos fueron mantenidos con "vida". Este estudio sugiere que deberían establecerse actitudes clínicas de tratamiento en los casos en que se realice el diagnóstico de muerte cerebral en este período de vida

Assuntos

Assuntos