Hyperparathyroidism-jaw tumor syndrome: a case report.

We report the clinical and genetic findings in a 23-year-old woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT). The patient had a family history of primary hyperparathyroidism (PHPT) and uterine fibroma in her mother. The patient presented muscle weakness. The diagnosis of PHPT was confirmed by an elevated parathyroid hormone level above 1450 pg/ml with hypercalcemia and hypercalciuria. X-ray radiographies showed a radiolucent lesion in the right body of the mandible. Bilateral neck exploration was performed. An inferior right parathyroidectomy, a left thyroid lobectomy with isthmectomy and thymectomy were carried out. Histopathological examination of the specimen showed a diffuse hyperplasia of the parathyroid principal cells. The association of PHPT with a right jaw tumor and uterine fibroma suggested the diagnosis of HPT-JT syndrome. Mutation screening of HRPT2 gene was carried out and identified a germline mutation, consisting in a base deletion in exon 1, 85delG, inducing a frameshift. The diagnosis of HPT-JT syndrome is clinically important because of its hereditary component and its high risk of parathyroid malignancy, making a genetic inquiry necessary.

[Zincemia, cupremia and infection in malnourished children]. / Zincémie, cuprémie et infection chez l'enfant malnutri.

BACKGROUND: Serum copper and zinc levels are decreased in malnourished and infected children. The role of either malnutrition or infection remains undetermined. POPULATION AND METHODS: Serum zinc and copper concentrations were measured by atomic absorption spectrophotometry in 31 malnourished infants aged 1 to 26 months and 28 eutrophic infants aged 3 to 22 months. Fourteen infants of the first group and 10 of the second were infected at the time of study. RESULTS: Serum zinc and copper levels were significantly decreased in infants with malnutrition (zinc: 66 +/- 32 micrograms/dl and copper: 81 +/- 51 micrograms/dl versus 108 +/- 26 and 185 +/- 21, respectively, in eutrophic infants) (p < 0.001). These levels were still lower in those malnourished infants who were infected (zinc: 49.5 +/- 18 micrograms/dl and copper: 63.5 +/- 37 micrograms/dl versus 81.56 +/- 35 and 94 +/- 56 in non infected patients) (p < 0.02). CONCLUSIONS: Infection increases the risk of low serum zinc and copper concentrations seen in malnourished children. This factor must be taken in account when treating malnutrition.

[Characteristics of persistent diarrhea in pediatric services in Tunis]. / Caractéristiques de la diarrhée persistante dans un service de pédiatrie à Tunis.

BACKGROUND: Persistent diarrhea (PD) is recognized as a major cause of morbidity and mortality in the developing world. PATIENTS AND METHODS: The files of all children, less than 5 years of age, admitted in 1990 and 1991 for diarrhea persisting from 14 to 30 days have been retrospectively analysed. Socio-economic factors, history of disease, changes in feeding, nutritional status and clinical data of the DP have been specially recorded. RESULTS: During these 2 years, 74 children were admitted (93% of them were less than 12 months old). Two-thirds of the patients were issued from suburban-living poor families. DP was more frequent during September and October (42%), the usual period of malnutrition. Although only 23% of the mothers had reported history of acute diarrhea, 35% of them did not exclude it. Sixty-nine percent of the children were breast-fed and 82% were bottle-fed before 12 months of age. Dietary intake was stopped during the acute episode in 52% of cases. There were no chronic malnutrition, but 69% of patients were suffering from acute malnutrition. Dehydration was present in most cases and was severe in 33% of them. Death occurred in three children. CONCLUSIONS: These results show that, among usual risk factors of PD bottle-feeding, diet errors and history of acute diarrhea seem to be particularly frequent in this Tunisian population.

[Deficiencies of physiological coagulation inhibitors in children with venous thromboses of the lower limbs. Prospective study of 6 cases]. / Déficts des inhibiteurs physiologiques de la coagulation dans les thromboses veineuses des membres inférieurs de l'enfant. Etude prospective de six cas.

Six patients aged 3 to 14 years with lower limb vein thrombosis were included in a prospective study of deficiencies in physiological coagulation inhibitors. The laboratory evaluation included standard hemostasis tests, tests for circulating anticoagulants, immunological and functional assays of protein C, protein S, and antithrombin III, and a study of fibrinolysis. A qualitative protein S deficiency with decreased fibrinolysis and protein C deficiency were found. The family study detected asymptomatic heterozygotes in both families investigated. No antithrombin III deficiency or circulating anticoagulants were found.

[Visceral leishmaniasis in children. A study of hospitalized cases from 1974 to 1988 at the Children's Hospital in Tunis]. / Leishmaniose viscerale de l'enfant. Etude des cas hospitalisés de 1974 à 1988 à l'Hôpital d'Enfants de Tunis.

The authors reported 122 cases of kala-azar admitted at Tunisian Children's hospital between 1974 and 1988. This affection was concerned male child and 78% of cases were aged less than 3 years old. The clinical feature was pallor, fever and splenomegaly. The diagnosis of kala-azar was established by serological test. The death rate was 8%.

[Hospital mortality in children aged 0 to 15 years at a pediatric service in Tunis over a period of 5 years (1983-1987)]. / Etude de la mortalité hospitalière de 0 à 15 ans dans un service de pédiatrie à Tunis sur une période de 5 ans (1983-1987).

The authors studied the hospital mortality among 0-15 years old children hospitalized in a department of pediatrics in Tunis from 1983 to 1987. A significant decrease in the mortality rate was observed (from 12.21 to 8.23%). Neonates and hypotrophic children made up the at-risk groups. Causes for mortality mostly consisted of infectious diseases. The maximum of deaths were observed during the Summer-Autumn period and especially in the evenings. The decrease in the mortality rate was correlated with the time when mothers began to be hospitalized with their children.

[Toxocara canis in apparently bilateral ocular site]. / Localisation oculaire à toxocara canis apparemment bilatérale.

The authors report a rare case of ocular larva migrans lesions due toxocara canis in an 8-year-old child. Lesions were bilateral, consisting of peripheral chorioretinal granuloma, papillitis and vasculitis. Diagnosis was confirmed by eosinophilia (37%), positive serology in blood and aqueous humour and by raised immunoglobulins E in vitreous humour. The presence of vascular and chorioretinal lesions was demonstrated by fluorescein angiography. The patient was treated with antihelminthic drugs, topical and systemic steroids and ocular cryotherapy to the peripheral chorioretinal granuloma. The outcome was good, with lesions stabilised.