[Congenital hypothyroidism caused by iodo-tyrosine-desiodase deficiency. Clinical, biological and therapeutic study].
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Biomedical subjects
Publications and source records attributed to E Louchet.
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A series of 17 cases of gallstones in children observed over a period of 10 years in the area of Marseilles is described and the literature reviewed. The majority of children were girls over 10 years old. Symptoms were constantly present and the disease revealed nine times by acute "mechanical" cholecystitis, compared to 16 infectious cholecystitis followed during the same period, three times by an accident of migration (cholangitis in a 14 years old girl, bile ascitis in two infants). A cholecystography should be performed in acute recurrent abdominal pain of unknown origin in children, gallstones appearing to be radiotransparent in six patients. Among causes of gallstone formation, the authors dig out only 6 hemolytic anemias, related to hemoglobinopathies in three patients, and they emphasize the frequency of idiopathic cholelithiasis which should lead to a more complete investigation of the enterohepatic cycle and chemical constitution of bile in such patients.
In connection with 6 cases of Wilson's disease, the authors recall the main features of this hereditary metabolic disorder at late onset (usually the second decade), treatable with a chelating agent, when diagnosed at an early stage. Wilson's disease is first of all a liver disease and the authors emphasize the fact that cirrhosis is usually present when neurologic symptoms, revealing the disease in 5 cases, appear, even if there is no clinical or biological evidence for liver disease. In one instance hemolytic anemia and chronic active hepatitis were observed at clinical onset. Copper metabolism usually gives the key for diagnosis but its interpretation may be difficult, a normal serum ceruleoplasmin level being found in two patients and evaluated at 6% in the literature. This fact brings up the puzzling question of the pathogesis of the disease. Wilson's disease is not a simple ceruleoplasmin synthesis defect, but a lysosomal disease responsible for the lack of copper biliary excretion. This is pointed out by histochemical studies using a special rubeanic acid preparation (revealing copper deposit on the biliary side of the hepatic cell), and by electron microscopy showing lysosomal dystrophy.
The authors report a case of asymetrical gonadal dysgenesis related to 45XO-46XY mosaicism in a 16 year old girl. Delayed, growth and puberty, Turner's dysmorphism without sexual ambiguity and skeletal abnormalities are the main clinical features suggesting the diagnosis. Exploratory laparotomy reveals infantil uterus, bilateral falopian tubes and streak gonads. A right dysgenetic testis is identified on electron microscopic examination. Theories on pathogenesis of this unusual genetic defect are discussed.
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The aim of this work was to describe the endoscopic features and clinical outcome of the duodenal complications in anaphylactoid purpura. Over a 3-year period, 20 patients were hospitalized in our unit because of purpura rheumatica. Duodenal complications occurred in 5 cases warranting endoscopic assessment. All patients had bilious vomiting and epigastric pain, constantly associated with low-grade purpuric rash. Plasma factor XIII concentrations were always decreased. The duodenal complication was suspected radiologically in 2 cases when "thumbprint" impressions were seen. Petechiae, oedema and intramural hematoma with superficial erosions were present endoscopically in 3 cases. The lesions were severe and extensive, involving the entire duodenum in 3 cases and the jejunum in one case. In one patient, there was a stricture of the upper part of the second duodenum. Treatment consisted of parenteral nutrition (using a central catheter: 3 cases, or a peripheral vein: 2 cases) and cimetidine (30 mg/kg.bw). The clinical outcome was favorable in 4 patients; the symptoms vanished and the endoscopic lesions were reversible (including the stricture) with restitutio ad integrum after 10 days. The last patient died the 8th day of treatment, 3 days after digestive improvement; the cause of death was probably iatrogenic and related to accidental migration of the central catheter. These results suggest that endoscopic examination should be performed in all patients with anaphylactoid purpura presenting with bilious vomiting. Endoscopy seems to be of great value in deciding if parenteral nutrition is indicated--or not--and perhaps in order to contraindicate the use of steroid therapy in the case of ulcerated hematomas.
The description of a case imported from Chad of an association of Salmonella typhi - Schistosoma haematobium and, in this connection, a new revised general account. The association Salmonella-Schistomas is wide-spread. It corresponds to a salmonello - schistosomo - micro - association by the fixation of precise bacteria in the case of a bacteriemia on the cutaneous surface of male schistosomes in clearly defined places. These Salmonella constitute a permanent antigenic solicitation and they are capable of mobilization and rejection (bacteriuria after passage through the blood-stream) whereas bacteriosis remains asymptomatic. In fact, on the practical level, a clear and absolute distinction must be made between:--the bacteriemia with the concomitant bacteriuria, which are largely physiological in nature, very frequent and originating from various germs, connected with the emunctory function of the kidneys and which can be observed in any subject.--the schistosomal bacteriuria which are specific entities and evidence of a veritable micro-association of a symbiotic nature between the Salmonella and the schistosome, a micro-association which the bacteriuria reveals unexpectedly whereas the clinical symptoms are absent, not clearly discernible or totally misleading.
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5 cases of biliary stricture, 3 congenital, 1 malignant and 1 blunt traumatic are reported in 3 infants and 2 children. Jaundice is present in 4 patients only and is delayed in 2. Alkalin phosphatases are constantly elevated but ultrasound studies negative in 3 patients. Diagnosis was made by percutaneous cholangiography in 2 and per-operative cholangiogram in 3. Roux en Y hepaticojejunostomy is successfully performed in 4. Bile duct stricture is a rare cause of cholestatic jaundice in childhood and an even rarer sequela of blunt trauma. This series demonstrates the usefulness of percutaneous transhepatic cholangiography, more accurate than ultra-sonography in investigating cholestasis in childhood.