[You make the diagnosis. Trisomy 13 (Patau syndrome)].
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Biomedical subjects
Publications and source records attributed to M Sacher.
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Five cases of angiomatous polyps that were initially interpreted as angiofibromas are presented. Although they are similar to angiofibromas, angiomatous polyps have a distinctly different pattern of growth on computed tomography and a different angiographic appearance. In addition, they are more easily extirpated at surgery than are angiofibromas.
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Lower respiratory infections in infancy caused lung emphysema in a 10-year old girl; being a locus minoris resistentiae the emphysema led to recurrent pulmonary complaints. This corresponds to the definition of the Swyer-James or McLeod Syndrome. The radiologic clue to the diagnosis is often the "unilateral hyperlucent lung", which is also found in many other childhood diseases. With our case we present an economical way of differentially diagnosing the unilateral hyperlucent lung, a way that is as little invasive as possible.
The roentgen findings of a rare benign chondroma of the petrous apex are presented. This patient's clinical history made it imperative that we rule out a metastatic breast lesion. A transcochlear approach verified the benign nature of this lesion.
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372 children with suspected liver disease were examined for serum HBsAg. Six (three boys, three girls) were found to be positive (1.6%). Further studies of these patients for up to three and a half years revealed elimination of HBsAg in one case only. Biopsies were performed in five patients. Three showed mild chronic hepatitis (two chronic persistent hepatitis, one unspecific reactive hepatitis). Chronic aggressive hepatitis was diagnosed in one patient. One child seemed to be normal on light microscopy, but the findings on electron microscopy were abnormal, the liver cell nuclei being filled with core particles. Two thirds of the family contacts of these children showed hepatitis B marker. Two pregnancies were observed in HBsAg-positive mothers. An infection of the babies was not demonstrable.
A retrospective analysis of the case histories of 176 infants and children with documented coeliac disease born between 1953 and 1975 revealed the following data: Gluten was introduced into the diet of 49% of these patients at an age of 3 to 4 months. The interval between the introduction of gluten and the appearance of first symptoms was very variable and independent of age, occurring within 4 weeks in 32% and within 2 weeks in 20% of cases. In 13% this interval was 6 to 13 months. 91% of cases presented during the first year of life. Signs were also variable, the most frequent combination being failure to thrive, abnormal stools, anorexia vomiting and abdominal distension. In young infants symptoms tended to be more severe, whilst in children older than 2 years stunting of growth was the most frequent single clinical finding.
This report deals with a hospital outbreak of Coxsackie virus infections in a neonatal ward. Most infections were mild, but one boy died from severe toxicosis. Six children had an abnormal ECG. Virus was isolated from 3 children, including the fatal case. One virus was Coxsackie B5, the two others Coxsackie A9. A rise in titre in the neutralisation test with respect to Coxsackie B5 virus was found in the sera of 13 patients and to Coxsackie A9 virus in a further two cases. Four cases were diagnosed using a Coxsackie B mix antigen and 10 by means of a picorna mix antigen in the CFT. Thus the picorna mix antigen proved to be very useful in the diagnosis of Coxsackie infection in newborn infants. Coxsackie viruses were also isolated from the faeces of ward personnel and serological evidence of recent infection was found by means of the CFT. The epidemiological implications of these findings are discussed.
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P-Amino-benzoic acid (PABA) is split specifically by pancreatic chymotrypsin from the synthetic tripeptide N-benzoyl-L-tyrosyl-PABA. The urinary excretion of absorbed PABA serves as an index for exocrine pancreatic function. The peptide (0.015 g/kg) was administered orally to 20 controls (aged between 5 months and 16 years), 6 patients with exocrine pancreatic insufficiency caused by cystic fibrosis (CF), and 9 newborn infants. In the controls the mean 6-hour PABA recovery was 58.5% (+/- 11.2 SD). Recovery in patients with CF was lower (P less than 0.001) with no overlap. In newborn infants the mean 6-hour PABA recovery was 23.4 (+/- 17.7 SD); overlapping in 3 instances with the results in CF patients. This simple, noninvasive test thus appears promising and merits further investigation in younger infants, especially newborns.
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A child treated for a desmoplastic medulloblastoma of the left cerebellar hemisphere at the age of 10 months developed a malignant astrocytoma in the same site 11 years later. Theories of origin of the second tumor, particularly in relation to concepts of the genesis of medulloblastoma in general, are discussed.
Growth data, clinical symptoms and bone mineral parameters were analyzed in 20 children with coeliac disease in whom the diagnosis was established by biopsy at age 3-13 years. Small stature and bone age retardation (greater than 2 SD) were present in 65% and 60%, respectively. Typical clinical symptoms of coeliac disease as found in the younger child were present in many cases, but 3 were completely asymptomatic except for severe growth retardation. Metacarpal diameters and cortical thickness were significantly decreased for chronological age but in most cases normal for bone age. Quantitative bone mineral analysis of the radius by computed tomography revealed normal values for height and weight in the 4 cases investigated. It is concluded that coeliac disease should always be considered in the differential diagnosis of retarded growth and bone age. "Osteoporosis" may occur in coeliac disease, but does not necessarily accompany growth failure. The analysis of metacarpal diameters and cortical thickness in the search of "osteoporosis" may result in false interpretation if not correlated to height and weight.
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