Biomedical subjects
B F Carpenter
Publications and source records attributed to B F Carpenter.
Intraabdominal pulmonary sequestration.
A left upper quadrant fetal abdominal mass was detected at 24 weeks gestation. The mass was again confirmed in a postnatal ultrasound. Pathological analysis of the excised mass demonstrated an intraabdominal lung sequestration with Stocker type II congenital cystic adenomatoid malformation (CCAM). The sonographic characteristic of these lesions are those of a homogeneous echogenic mass with variable shape passing through or arising from the diaphragm. Surgical excision is recommended because of the uncertainty of the preoperative diagnosis and the possibility of malignant changes in CCAM.
Atelosteogenesis I and boomerang dysplasia: a question of nosology.
We report a patient whose clinical, radiologic and histopathologic findings are compatible with severe atelosteogenesis (AT-I). The patient is compared with previously reported cases of AT-I, as well as with patients reported as having "boomerang" dysplasia. We conclude that it is reasonable to consider AT-I and boomerang dysplasia as part of a spectrum, probably reflecting a common etiology. More and detailed clinical, radiologic and histopathologic reports are needed to further clarify the relationship of AT-II and AT-III in this family of skeletal dysplasias.
Four unusual cases of sudden and unexpected cardiovascular death in infancy and childhood.
Four unusual cases of sudden and unexpected cardiovascular death in infancy and early childhood that were found during a ten-year autopsy review at our institutions are presented. In Case 1, an asymptomatic 2-year-old male, sudden death resulted from an acute myocardial infarct due to occlusion of coronary arteries that had been previously damaged by unsuspected arteritis. Case 2, a previously well 7-month-old male, died from an acute myocardial infarct due to an unsuspected anomalous origin of the coronary arteries from a single, stenotic coronary ostium. Case 3, a previously well 21-month-old black male, died from a splenic sequestration crisis due to undiagnosed sickle cell disease. Case 4, a 2-month-old female with suspected Marfan syndrome, died from a ruptured dissecting aneurysm of a patent ductus arteriosus. Accuracy of diagnosis was of particular importance in the latter two cases because of the possible genetic implications.
Anomalous coronary arteries arising from the aorta associated with sudden death in infancy and early childhood. An autopsy series.
Anomalous coronary arteries arising from the aorta are a recognized cause of myocardial ischemia and sudden death. Death has been precipitated by exercise in most cases. We present the results of an autopsy study in which sudden and unexpected deaths associated with coronary anomalies were found in three children (less than 2 years of age). In two cases, death was not associated with exercise. In two case, the myocardium was morphologically normal, and in the third case, there was an extensive recent anterior myocardial infarct with a background of established fibrosis. Coronary artery anomalies may be easily overlooked in this age group because of small vessel size and difficulty in dissection; this is particularly so when there are normally placed ostia. One consequence of this is potential for confusion with sudden infant death syndrome.
Prenatal ultrasonographic diagnosis of dicephalus conjoined twins.
The authors report the prenatal diagnosis by ultrasonography of dicephalus dipus dibrachius conjoined twins (with two heads, one body, two legs and two arms) at 31 weeks' gestation. They discuss the types of conjoined twinning and their frequency of occurrence and the criteria for prenatal diagnosis, and they offer recommendations for management.
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons.
A diagnosis of Smith-Lemli-Opitz syndrome was made shortly after birth in a small-for-dates infant, on the basis of a characteristic face, penoscrotal hypospadias, bilateral postaxial hexadactyly, and bilateral syndactyly of toes 2-3. The clinical course was marked by failure to thrive, severe delay, refractory myoclonic jerks beginning at age 2 months, and increasing hepatosplenomegaly. He developed corneal clouding and increased gingival hypertrophy and died at age 18 weeks. Autopsy disclosed widespread storage of mucopolysaccharides and lipids within the macrophages and, to a lesser extent, parenchymal cells, of all organ systems. There was extensive demyelination of the cerebral white matter, and dystrophic calcification in the cerebrum, cerebellum, and brainstem. There was no evidence of primary neuronal involvement in the storage. Although the chance concurrence of 2 uncommon diseases is rare, a causal link between the clinical anomalies and the storage disorder cannot be argued convincingly on the basis of one case. Careful pathologic studies of other children who die with clinical signs compatible with Smith-Lemli-Opitz syndrome are indicated.
Congenital teratomas of the neck and nasopharynx: a clinical and pathological study of 18 cases.
Congenital teratomas of the neck and nasopharynx are unusual tumours that seldom metastasize. Due to their rarity, reviews often have relied upon compilations of isolated case reports. We report our experience of the early outcome of 18 cases (14 cervical, four nasopharyngeal) to demonstrate the high morbidity and mortality that these benign but critically placed lesions have because of local mass effects. Six patients (33%) either were stillborn or died of disease within 2 days of birth; of the survivors, four (22%) had significant respiratory obstruction requiring surgery. Tumour location and size rather than histologic grading were the most significant features affecting the immediate clinical course. All but one of the patients who underwent early surgical resection had a favourable outcome.
Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.
Infantile neuroaxonal dystrophy (IND) is a well-established autosomal recessive neurodegenerative disease. Clinical signs generally begin toward the end of the first or during the second year of life. We are aware of at least 4 cases of pre- or perinatal onset of this condition, and report here on 2 brothers who were affected at birth and had an unusual clinical course with onset of peripheral gangrene that progressed to autoamputation of digits. Both boys died in infancy with pathological changes compatible with IND. The somewhat different clinical course in these brothers leaves open the possibility that this is a variant of neuroaxonal dystrophy due to an X-linked recessive mutation.
Melanotic neuroectodermal tumor of infancy.
Melanotic neuroectodermal tumor of infancy is a specific but unusual tumor of infancy for which only sporadic cases have been reported in the literature. This paper presents a case in an infrequent site, the epididymis, and summarizes the literature on the subject.
Rapid ultrasonic bath processing for electron microscopy.
A new rapid method for the processing of biopsy specimens for electron microscopy is described. The method uses standard reagents and media and employs ultrasonic cleaning bath agitation to accelerate fluid exchange. The procedure takes approximately 2.5 h from specimen excision to polymerized block and gives excellent results.
Birbeck granules or Birbeck junctions? Intercellular "zipperlike" lattice junctions in eosinophilic granuloma of bone.
Three cases of eosinophilic granuloma of bone exhibited intercellular attachments between histiocytes, with a pentalaminar structure identical to that seen in nearby intracellular Birbeck granules (BG). It is proposed that the term "lattice junction" be coined to describe this organelle, which seems to be expressed only by cells of monocytic-histiocytic lineage. While this finding confirms the ability of the surface membrane to form such structures, it does not necessarily preclude other intracytoplasmic sites of origin for some BG. The previously suggested role of BG in membrane storage and regulation is reiterated as a supportable model for their function.