Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

The Muckle-Wells syndrome (MWS) is a hereditary inflammatory disorder characterized by acute febrile inflammatory episodes comprising abdominal pain, arthritis, and urticaria. Progressive nerve deafness develops subsequently, and, after several years, the disease is complicated by multiorgan AA-type amyloidosis (i.e., amyloidosis derived from the inflammatory serum amyloid-associated protein) (MIM 191900) with renal involvement and end-stage renal failure. The mode of inheritance is autosomal dominant, but some sporadic cases have also been described. No specific laboratory findings have been reported. The genetic basis of MWS is unknown. Using a genomewide search strategy in three families, we identified the locus responsible for MWS, at chromosome 1q44. Our results indicate that the gene is located within a 13.9-cM region between markers D1S2811 and D1S2882, with a maximum two-point LOD score of 4. 66 (recombination fraction.00) at D1S2836 when full penetrance is assumed. Further identification of the specific gene that is responsible for MWS will therefore provide the first biological element for characterizing MWS, other than doing so on the basis of its variable clinical expression.

[Children who swallow air]. / Les enfants avaleurs d'air.

UNLABELLED: Gas in the gut derives from swallowed air, intra-luminal production and diffusion from the blood. Excessive swallowed air may cause pathologic aerophagy. CASE REPORTS: This report describes four children aged from 3 to 12 years with pathologic aerophagy due to excessive air swallowing. One of them had a "Gas Bloat Syndrome". Clinical presentation was very incongruous. However, the clinical features were characteristic: abdominal distention increasing throughout the day, associated with visible and often audible air swallowing and excessive flatus. The questioning and clinical examination helped for diagnosing. Medical symptomatic treatment was associated with a psychotherapy approach. CONCLUSION: A better recognition of this condition might contribute towards earlier diagnosis.

[Creutzfeldt-Jakob disease in 4 children treated with growth hormone]. / Maladie de Creutzfeldt-Jakob chez quatre enfants traités par hormone de croissance.

Creutzfeldt-Jakob disease was diagnosed in four growth hormone recipients at the age of 10, 11, 18 and 19 years. To our knowledge, the two first cases are the first instances of Creutzfeldt-Jakob disease recorded in children. Three of them were still being treated with synthetic hormone at the onset of the disease. Neurological disorders: ataxia and diplopia, appeared first, dementia and myoclonus appeared later. Eighteen cases of Creutzfeldt-Jakob disease in growth hormone recipients are now recorded, and the present risk of Creutzfeldt-Jakob disease in pituitary growth recipients is estimated to be 1/300. Because of the long incubation period, new cases are to be feared. Other causes of iatrogenic Creutzfeldt-Jakob disease are reviewed. These facts incite to consider carefully using products of human origin in human therapy. The interactions between growth hormone, prion and host's genomic make-up are still not clear.

[Water deprivation. An uncommon form of child abuse]. / Privation d'eau. Une forme inhabituelle de maltraitance.

The authors report a case of hypernatremic dehydration following chronic water deprivation and very likely salt load as a form of child abuse in a 2 11/12 year-old girl. This uncommon picture often expresses a severely disturbed relationship between parents and child which has to be considered in the family management.

Membranous nephropathy associated with ovarian tumour in a young girl: recovery after removal.

We report a 7-year-old girl who presented with membranous glomerulonephritis and steroid-resistant nephrotic syndrome in association with a benign ovarian tumour. Surgical excision of the tumor led to complete disappearance of the proteinuria within 2 weeks. Tumour-associated membranous nephropathy in children is rare, as a review of the literature shows.

[What problems does childhood toxocariasis currently pose? Apropos of 6 clinical cases]. / Quels problèmes posent actuellement les toxocaroses de l'enfant? (a propos de six observations cliniques).

About six observations of toxocariasis (visceral larva migrans syndrome). We relate six observations of toxocariasis among children. In one case, an ocular localization is probable. For other five patients, they are inapparent forms. The allergologist pediatrician may be consulted because of a major hypereosinophilia (greater than 10,000/mm3) and an elevation of total IgE (greater than 2,000 UI/ml). Allergic and current parasitologic assays are negative and diagnostic key is given by toxocara serology. We insist on interest and reliability of passive hemagglutination test with a purified antigen (titer greater than or equal to 1/320). Treatment now is preferably flubendazole (50 mg/kg/day for six days) eventually renewed.

[Primary intestinal lymphangiectasis with antenatal manifestation]. / Lymphangiectasies intestinales primitives à révélation anténatale.

Antenatal ascites diagnosed by ultrasound examination was punctured and shunted in utero. Radiologic, endoscopic and histologic data led to diagnosis of primitive intestinal lymphangiectasia during the second year of life. Antenatal revelation of Waldmann's disease is extremely rare in pediatric literature.