Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly).

Agenesis of the corpus callosum and malformation of limbic structures are described in a patient with Apert syndrome, a disorder characterized by acrocephaly, severe syndactyly, and often, mental retardation. Including the present case, malformation of the corpus callosum and/or limbic structures apparently has been reported in a total of ten patients with the syndrome. Complete or partial agenesis of the corpus callosum was found in six patients, septal defects in three, and arhinencephaly and ammonic hypoplasia in one. Since malformation or limbic structures are, to our knowledge, a consistent feature of agenesis of the corpus callosum, it seems that limbic abnormalities could be important for the pathogenesis of mental retardation not only in Apert syndrome, but also in other acallosal patients.

Obliterative bronchiolitis in children.

Clinical, radiologic and histologic features of obliterative bronchiolitis (OB) in children were reviewed to define features helpful in early recognition. All autopsies (n = 2,897), lung biopsies (n = 244), and medical records of children followed at St. Christopher's Hospital for Children (SCHC) between 1960 and 1985 were screened. Nineteen cases of OB were confirmed using radiologic and histologic criteria. Twelve patients were diagnosed during life, and ten survived. Seven were diagnosed post mortem. OB should be considered when persistent respiratory signs and symptoms follow acute pneumonia, aspiration is known or suspected, areas of hyperlucency are seen on chest radiograph, or respiratory failure with overaeration is unresponsive to therapy. Diagnostic studies include ventilation-perfusion scan, bronchography and lung biopsy. Sequelae include dyspnea on exertion, obstructive lung disease, bronchiectasis, persistent atelectasis, and hyperlucent lung syndrome. Recognition and supportive treatment during the acute and chronic phases may improve the functional status of these patients.

Translocation 10;17 in clear cell sarcoma of the kidney. A first report.

This is the first report of a t(10;17) as the unique cytogenetic finding in one case of a rare childhood tumor, clear cell sarcoma of the kidney (CCSK). This observation is discussed in relation to the cytogenetics of Wilms' tumors, of which CCSK is a variant.

Olfactory hamartomas in tuberous sclerosis.

Gross or microscopic glial hamartomas were found in the anterior olfactory lobe and olfactory germinal layer of three babies, two of them newborns, with tuberous sclerosis. In two cases microscopic hamartomas were seen in the anterior olfactory lobe, and in one of them there was a prominent nodular tumor of the olfactory tract and trigone. In addition, in both of these cases there were bilateral germinal layer tumors between striatum and septum, at the junction of the obliterated olfactory recess and the frontal horn of the lateral ventricle. Only microscopic hamartomas were present in the olfactory germinal layer of the third case. Typical subependymal germinal layer tumors were also present elsewhere in all cases; however, cortical tubers were recognized in only two of them. In all three patients, the clinical presentation and death were due to cardiac rhabdomyomas. The findings suggest that olfactory hamartomas might be relatively common in tuberous sclerosis. Involvement of olfactory structures is not surprising because the lesions seem to originate in the germinal layer, a region of the brain which is prominently involved in the disease.

Cerebral rhinocele, hydrocephalus, and cleft lip and palate in infants with cardiac fibroma.

Cardiac transplantation was performed in two infants with unresectable fibromas of the myocardium. In one patient, lip surgery was also required for unilateral cleft lip and palate. At autopsy, communicating hydrocephalus of mild to moderate degree was found in both cases. In the patient with facial clefts, there was also a large, ipsilateral cyst, or rhinocele, of the olfactory lobe. This unusual lesion, which seems to represent a previously unreported malformation, was apparently formed by segmental dilatation of a persistent olfactory ventricle. Cerebral or cranial anomalies are thought to be rare in cases of cardiac fibroma; however, macrocephaly was present in five patients. Furthermore, presenting abnormalities among previously reported cases included hydrocephalus in one case, and cleft lip and palate in another. These and other findings suggest that, at least in some cases, cardiac fibroma is a manifestation of a more extensive developmental disorder.

Accuracy and clinical utility of the mini-dose 14C-urea breath test in the evaluation of Helicobacter pylori infection.

The aim of this study was to evaluate the accuracy of the 14C-urea breath test by comparing the results to those obtained by endoscopy with mucosal biopsy. We also examined the value of the breath test result obtained prior to endoscopy in predicting peptic ulcer disease. Forty-two individuals underwent the 14C-urea breath test. Collections of expired C02 were analysed using a liquid scintillation counter. All individuals then underwent endoscopy with biopsy. Biopsy material was evaluated by the rapid urease method and by histology for the presence of H. pylori. Our results demonstrated that the 14C-urea breath test was 100% sensitive and specific when compared to the rapid urease test as the 'gold standard' for the detection of H. pylori. In comparison to pathology, the sensitivity remained 100% and the specificity was 89%. The results of the 14C-urea breath test had a poor predictive value for the determination of peptic ulcer disease. We conclude that the 14C-urea breath test can be easily performed at any medical facility equipped with a liquid scintillation counter and can accurately detect H. pylori. A negative breath test result could not exclude the presence of peptic ulcer disease.

Severe RSV bronchiolitis in an immunocompromised child.

A 9-year-old with immunodeficiency developed a severe, diffuse respiratory illness that necessitated mechanical ventilation. Open lung biopsy revealed Respiratory Syncytial Virus (RSV) as the sole pathogen. RSV detection should be included in the differential diagnosis of diffuse lung disease in an immunocompromised child.

Body stalk deformity in a twin pregnancy: case report and review.

Body stalk deformity is a variety of the limb-body wall complex (LBMC)--the rare, complicated, congenital process believed to result from early rupture of the amnion and vascular disruption. Here we report a case of this anomaly in a twin pregnancy and describe the prenatal ultrasound findings.

Congenital Pick cell encephalopathy: a distinct disorder characterized by diffuse formation of Pick cells in the cerebral cortex.

Diffuse degeneration of the cerebral cortex and claustrum was found in the brain of a 7-week-old baby with profound psychomotor retardation, multiple ankyloses, seizures, and hypothalamic dysfunction. There was ubiquitous Pick cell formation and gliosis in the affected gray matter. The cortex was not atrophic; in fact, the brain was moderately enlarged. The clinical and pathological findings suggest that the disorder should be distinguished from Pick's disease, as well as from other congenital encephalopathies.

Diagnosis and prenatal diagnosis of epidermolysis bullosa herpetiformis (Dowling-Meara) in a mother, two affected children, and an affected fetus.

In utero skin biopsy was performed on a fetus at risk of an uncertain form of epidermolysis bullosa (EB). The mother had produced two affected offspring diagnosed variously as having junctional or dystrophic EB. The two offspring and the fetus were products of different fathers. The mother claimed to have no disease and on clinical examination was without blisters. Examination of the fetal skin biopsy by light and electron microscopy revealed separation of the epidermal sheet from the majority of the biopsy sample, although occasional remnants of basal cells remained associated with the basement membrane. Aggregations of keratin filaments were observed within basal cells of the detached epidermis and in the attached basal cell remnants. The diagnosis was thus suggested to be epidermolysis bullosa Dowling-Meara. Re-review of the clinical and laboratory data from the affected infants revealed a clinical and histological pattern consistent with this diagnosis. Further discussion with the mother revealed that her skin had blistered as a child and that she presently had hyperkeratotic palms and soles. This history is consistent with the autosomal dominantly inherited epidermolysis bullosa herpetiformis (Dowling-Meara). This is the first reported prenatal diagnosis of EB Dowling-Meara. The morphological criteria of intraepidermal blistering and clumped keratin filaments within basal and immediately suprabasal cells characteristic of an affected individual postnatally also identified an affected fetus. There is, however, insufficient experience to be certain that these findings will hold from region to region in the body or among all affected fetuses, and thus prenatal diagnosis on a morphological basis should still be made with caution.

The impact of diabetes and obesity on liver histology in patients with hepatitis C.

AIM: An association between diabetes mellitus and HCV has been recognized previously. No study has examined whether there is an independent association between the degree of hepatic fibrosis and the incidence of diabetes in HCV patients when controlling for other risk factors. METHODS: We reviewed the charts of 264 consecutive patients with chronic HCV infection at a referral liver centre from January 1991 to December 1999. Demographic background, medical history, laboratory and liver biopsy results were retrieved. RESULTS: The prevalence of diabetes was 16.3%. Gender, intravenous drug use, steatosis scores, aminotransferase levels and iron studies were similarly distributed in patients with and without diabetes (all p > 0.05). In contrast, mean age was greater in the diabetic group (49.8 vs. 44.3, p = 0.003). The prevalence of diabetes was substantially higher in African-Americans (p = 0.001) and those with BMI > 30 (p = 0.015). Although the fibrosis score was higher in diabetics (rho = 0.14, p = 0.03), that association did not remain significant when controlling for diabetes risk factors (p > 0.3). The degree of steatosis and fibrosis both tended to increase with increasing BMI (rho = 0.47, p < 0.001 and rho = 0.13, p = 0.03, respectively). Even after controlling for diabetes, age, gender, race, and current alcohol use, those associations remained (both p < 0.001). CONCLUSIONS: The prevalence of diabetes in our group of HCV patients was high, consistent with other studies. Diabetes is not an independent predictor of degree of fibrosis. Body mass index is an independent predictor of both fibrosis and steatosis in HCV patients.

Thymolipoma: computed tomographic appearances.

The computed tomographic (CT) appearances of a thymolipoma are described in a 5 1/2-year-old girl. The location and CT appearances of the tumor appear to be specific for the diagnosis of thymolipoma.

Purpuric rashes in cystic fibrosis.

Sixteen patients with cystic fibrosis experienced vasculitic rashes of the lower extremities that resembled hypergammaglobulinemic purpura. The rashes were associated with increased serum gammaglobulin G levels and rather severe lung disease. The rashes are probably the expression of chronic lung infection and high antigenic load in these patients. Their appearance was associated, in most cases, with poor long-term survival.

Endomyocardial biopsy after heart transplantation in children.

Clinical evaluation, physical examination, and noninvasive testing have been suggested as adjuncts to endomyocardial biopsy for diagnosing acute graft rejection in children after heart transplantation. Because the consequences of delayed diagnosis or unnecessary treatment of rejection may be serious in pediatric transplant recipients, we reviewed our experience with repeated endomyocardial biopsy in seven children (aged 6 months to 19 years) and assessed the sensitivity and specificity of clinical and noninvasive data for diagnosing acute rejection. There were no serious complications in 71 biopsy procedures. In no patient did the presence of abnormal clinical findings or noninvasive testing coincide with treatable rejection that was proved on biopsy. However, there were nine episodes of treatable rejection in the absence of abnormal physical findings or noninvasive studies. At this time we consider repeated endomyocardial biopsy to be a feasible and safe procedure in infants and children and do not consider clinical findings and noninvasive testing sufficient to make therapeutic judgments in regard to acute graft rejection.