[Increasing prevalence of celiac children with negative serum antigliadin antibodies]. / Aumento dei bambini con malattia celiaca e anticorpi antigliadina negativi: studio delle caratteristiche cliniche.

AIM: In the last few years we noted an increasing number of children with celiac disease with negative serum anti-gliadin antibodies (AGA) a useful serologic test to monitor compliance to gluten-free diet. The aim of this study was to verify diagnostic accuracy of AGA and compare clinical characteristics of AGA-negative with AGA-positive celiac children. METHODS: The authors analyzed serum of AGA-negative celiac children with 3 Elisa kits, and compared clinical and anthropometric data of AGA-negative with AGA-positive celiac children. Celiac disease was diagnosed with small bowel biopsy, and total IgA were determined. Children with IgA-deficiency were excluded. RESULTS: When retested with two other commercial kits, serum values of AGA-negative children were confirmed in all but one. In the last 14 years a diagnosis of celiac disease was performed in 166 children, in 56 of them (33.7%) antigliadin antibodies were negative. Preva-lence of AGA-negative celiac children increased significantly in the last years (from 23% before 2002 to 39.8% after 2002, P=0.04). AGA-negative children were significantly older (7.8 years vs. 3.7 years, P=0.0007) they complained more frequently of abdominal pain (55%, vs. 25,4% P=0.04) and less frequently of anaemia (8% vs. 24.5% P=0.012) and were less likely to have a classical celiac triad (5.3 vs. 22%, P=0.004) than AGA-positive children. CONCLUSION: Serum AGA seem no longer useful for monitoring compliance to gluten-free diet. In children where AGA are negative at diagnosis, when the child eats a normal amount of gluten, they are going to remain negative even after poor compliance.

Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum.

INTRODUCTION: Pai syndrome is a rare genetic disorder mainly characterized by the association of complete median cleft of palate and upper lip, midline facial cutaneous, and mid-anterior alveolar process polyps, duplicated maxillary median frenulum, bifid nose, and midline lipoma(s) of the central nervous system, in particular, the corpus callosum. The incidence of this syndrome is much higher in males than in females. The etiology remains unknown: The syndrome may be associated with autosomal-dominant inheritance, but X-linked recessive inheritance could not be excluded. DISCUSSION: A de novo apparently balanced reciprocal traslocation, 46,X,t(X;16) has been described in a 13-year-old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. We describe a new case that presents the main clinical features associated with bifid nose, lipoma, and partial agenesis of corpus callosum.