New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Mutations of CIAS1 have recently been shown to underlie familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS), in three families and one family, respectively. These rare autosomal dominant diseases are both characterized by recurrent inflammatory crises that start in childhood and that are generally associated with fever, arthralgia, and urticaria. The presence of sensorineural deafness that occurs later in life is characteristic of MWS.

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.

[Children who swallow 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.

[Creutzfeldt-Jakob disease in 4 children treated with growth hormone].

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.

[Water deprivation. An uncommon form of child abuse].

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.