[Congenital spondylo-epiphysial dysplasia with multiple abnormalities].
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Necropsy findings of hepatobiliary system from 78 patients with end-stage renal disease maintained on hemodialysis are reported. Ninety percent of the patients exhibited some abnormalities. Multiple abnormalities often coexisted in each patient. Hepatomegaly was found in 50% of the patients and could be attributed to a discernible cause in all but two of the affected patients who had isolated hepatomegaly. Hepatic congestion was also prevalent and was complicated by fibrosis, cardiac cirrhosis, and centrilobular necrosis and hemorrhage in some patients. This was associated with chronic fluid overload, hypertension, and/or cardiovascular disease in the affected patients indicating the importance of adequate control of these factors. Mild periportal hepatic fibrosis, fatty metamorphosis, triaditis, hemosiderosis, and cystic changes were also seen with some frequency--the latter were associated with polycystic kidney disease and were complicated by massive intracystic hemorrhage and abscess formation, each in one patient. Chronic active hepatitis was found in three patients and was associated with chronic HBs antigenemia in one patient and presumed non-A, non-B infection in two. Nearly 22% of the patients showed either cholelithiasis at autopsy or before cholecystectomy due to complications. Significant negative findings included lack of acute viral hepatitis, silicone hepatosis, and recently described focal anoxic lesions associated with erythrocyte sludging. In conclusion, the present study has demonstrated the spectrum of hepatobiliary pathology in a large group of patients with end-stage renal disease maintained on hemodialysis.
The pathological data obtained from postmortem examination of the gastrointestinal tract in 78 chronic hemodialysis patients are reported. All but two of the patients exhibited some gastrointestinal abnormalities. Multiple abnormalities often coexisted in one individual. Esophagitis, gastritis, duodenitis, enteritis, and colitis were seen with considerable frequency. However, extensive hemorrhagic, ulcerative, and pseudomembranous lesions frequently seen in untreated uremia were generally lacking. Evidence of peptic ulcer disease was found in one-fourth of the patients confirming the increased predisposition of dialysis patients to this complication. Several patients exhibited various ischemic phenomena including thrombosis, embolism, and infarction of various segments of the gastrointestinal tract. In addition, numerous other abnormalities were found throughout the gastrointestinal tract with lesser frequency. The data indicate that various gastrointestinal abnormalities commonly occur in patients with endstage renal disease despite uremia control by hemodialysis. However, the observed abnormalities are different from those reported in untreated uremia.
The data processing of multiple congenital abnormalities is demonstrated in the Hungarian Surveillance of Congenital Anomalies. Specified dysmorphic syndromes and CA-associations are registered on the basis of notification. Unspecified multiple congenital abnormalities are evaluated on the basis of notified abnormalities. First, a distance-diagnosis is being tried concerning some specified dysmorphic syndromes and CA-associations. Second, the alive babies with unspecified multiple abnormalities are referred to the regional multiple abnormality centre while a detailed post-mortem description is requested from the stillborns and infant deaths with multiple abnormalities. Third, the remaining unspecified congenital abnormalities are divided into 4 categories (obvious, important, dubious and minor) and into 40 groups. Babies with two abnormalities are annually compiled in one table. Babies with three abnormalities are summarized according to the so-called "cardinal" abnormalities in different tables. Finally, babies with four or more abnormalities are listed one by one with regard to the leading abnormality in another table. This classification system helps - among other - to recognize known and new syndromes and CA-associations, as well as to monitor a cluster of specific combinations of congenital abnormalities.
We report a case of pseudoxanthoma elasticum (PXE) associated with asymptomatic multiple cerebral infarction on magnetic resonance imaging (MRI), endocrinological abnormalities and multiple congenital physical anomalies. A 40-year-old woman suddenly developed paresthesia in the right half of the body. Physical examination demonstrated loosening of the skin and yellowish papules in the neck and axilla, retinal angioid streaks, cardiac mitral regurgitation, congenital aplasia of the uterus and vagina, and congenital abduction palsy of the right eye. The biopsy of the papules in the neck showed typical features of PXE. Laboratory tests revealed positive antibodies to thyroglobulin and microsome, high TSH level with normal free T3 and T4, and impaired glucose tolerance. The laboratory data and the findings of ultrasonic examination on the thyroid suggested presence of Hashimoto's disease. MRI of the brain demonstrated multiple cerebral infarcts through they were asymptomatic. MRI failed to clarify the lesion responsible for the hemiparesthesia. Carotid arteriography showed slight stenosis with ulceration near the origin of the right internal carotid artery, and severe stenosis of the horizontal portion of the right middle cerebral artery. MRI study of the brain is recommended in PXE patients since the complication of brain pathology worsens the prognosis of the disease.
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The recommended definition of multiple congenital abnormalities is "a concurrence of (1) two or more (2) different (i.e. different localized errors in morphogenesis) (3) major congenital abnormalities in the same person". The baseline data of multiple congenital abnormalities in the Surveillance of the Hungarian Congenital Anomalies, 1970-1976, are shown.