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1.
A report is given of systemic lupus erythematosus (SLE) in monozygotic twins. One sister developed coombs-positive haemolytic anaemia at the age of 11 years and suffered from five haemolytic crises over a period of 8 months. SLE could not be proven at that time, but following a 3-year symptom-free period, characteristic clinical and immunological evidence of SLE became manifest. The second sister developed classical SLE at the age of 15 years. Clinical, immunological, etiological and therapeutical aspects of SLE are being discussed.  相似文献   

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The course of a Wilson-Mikity-syndrome in biovular twins born 19 weeks prematurely is reported. The disease started in the second week of life, reached its peak in the ninth week and it was complicated by a bronchopneumonia as well as a spastic bronchitis resulting in cardiac failure in both infants. On infant suffered spontaneous fracture of the ribs. Both patients were stationary for 26 weeks and 31 weeks respectively. A routine-examination at the age of 1 year revealed still distinct lung abnormalities, but nevertheless showing a tendency of improvement. Signs of right ventricular hypertrophy were found in the ECG of both children but more distinctly in the girl. The neurological development of the infants were found to be normal.  相似文献   

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Case report of a female neonate with hypocalcemia and spasms. The cause was parathyroid insufficiency due to hyperparathroidism of the mother. The hypocalcemia was treated with a massive dose of Vitamin D; this led to a sharp rise of 25-OH-vitamin D levels in serum. The mother had kidney stones. There was hypercalcemia and a raised parathormone level. Diagnosis was confirmed by surgery. An adenoma weighing 7 g was removed.  相似文献   

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A report on two siblings, on formula feeding, who had fits in the second week of life. Cause of the hypocalcemic cramps was a formerly undetected hyperparathyroidism in the mother.  相似文献   

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The presented case report deals with the clinical course of a congenital toxoplasmosis in dicygotic twins. The variability of the clinical course was proofed, because one of the twins remained unaffected with clinical signs and was detected only by the conversion of the seroreactions. On the other hand the second twin showed the picture of an acute meningoencephalitis resulting in a neurological defect syndrome. The reasons for the different clinical course, which is more pronounced in dicygotic twins than monocygotic, remain unknown.  相似文献   

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We report female monozygous twins who developed acute lymphoblastic leukemia at the age of 5 1/2 years. The diagnosis in the first twin was made after pallor, lethargy, and petechiae developed. The diagnosis in the second twin was made two days later when a whole blood count was taken. The lymphoblasts of both patients showed with the exception of the PAS-reaction identical morphological, cytochemical, and immunological results. The PAS-reaction was positive in 55% of the lymphoblasts in one twin, negativ in the lymphoblasts of the other twin. Both patients are in continuous complete remission 14 months after diagnosis. The risk of leukemia is high in the other monozygous twin when one of the twins has already developed leukemia. In the literature it is estimated to be 1 : 5. The diagnosis after the second year of life is rarely made at the same time. There is only one previous report of this occuring in a case of acute myeloblastic leukemia in 4 1/2 year old monozygous twins.  相似文献   

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In a retrospective longitudinal study physical growth was related to nutritional data in 35 (23 male, 12 female) early treated patients with phenylketonuria and hyperphenylalaninemic variants. In males growth was slightly retarded only in the first year of life, weight gain was normal in both sexes as was growth in females. Bone changes were noted in 10/33 patients. Protein was prescribed as phenylalanine free protein hydrolysate or phenylalanine free aminoacid mixture and as natural protein according to individual phenylalanine tolerance. In 34/35 patients total serum protein was normal whereas hemoglobin was near the lower normal limit. Serum phenylalanine increased continuously with age.  相似文献   

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The care of the mother during the pre- and postnatal period is of great importance not only for the act of birth but also for the establishment of the mother child relationship. There are indications that the quality of mothering during later childhood is determined by the way the mother child relations are established during the first days of life. It is important to realise the needs of the mother to see and to touch her child and to enable her to do so as often as possible even if this child is under special care. In cases of neonatal illness the mother especially needs the psychological help of her doctor and the nurses. The professional persons can provide this help better if they are aware of the normal reactions of the mother to neonatal illness or even death of her child.  相似文献   

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Bilateral renal agenesis (or dysplasia without any functioning kidney tissue) is almost constantly associated with a characteristic facial appearance. Extra-uterine existence is limited to less than 24 hours because of severe hypoplasia of the lungs. This pulmonary anomaly, together with the eventual positional bowing of the legs and feet and hands and perhaps some features of the "Potter face" may be attributed to the oligohydramnios which is a regular observation, but certain other findings like the obligatory epicanthic fold, swinging outwards to form a most peculiar "prominent" semi-circle below the orbital space, the dysplasia and low slanted position of the ears, the predominance of the boys, and the very high frequency of additional malformations and even total defects of the internal organs (especially of the urogenital and intestinal tract) can hardly be explained as being secondary resp. consequent upon the "foetal compression", resulting from the amniotic fluid deficit (due to anuria). Ten children, including a case of hermaphroditismus verus, with the full-scale Potter syndrome have been seen in this clinic during a six years period and are described and discussed in detail.  相似文献   

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Gastroenteritis due to Salmonella enteritis is an endemic disease in our region, extraintestinal manifestations however are rare. We report a 8 years old girl who presented after 4 days of an unspecific diarrheal disease with watery liquid stools, vomiting, abdominal cramps, fever above 39 Grad C and symptoms and signs of an acute abdominal emergency. Mid abdominal laparotomy disclosed a cholecystitis with reactive peritonitis. Cultures of bile showed Salmonella group B as the causative organism. Cholecystectomy was performed, postoperatively Gentamycin later Chloramphenicol was administered. The postoperative course was unremarkable. Cholecystitis is a rare disease in pediatrics. Gallstones don't seem to play a roll in the etiology unlike in adults. It usually follow serious systemic infections or postoperatively after unrelated abdominal surgery due to overgrowth of the biliary system and organisms contaminating the upper gastrointestinal tract (biliary stasis, dehydration). Salmonella enteritidis as a cause of a cholecystitis is a rare event.  相似文献   

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The Oro-mandibular-limb-hypogenesis-syndrome is a combination of rare malformations. The etiology is unknown. Early reconstruction of the mouth and orthopedical care are described. The psychological management of the parents and the early contact between mother and child are important.  相似文献   

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