NOONAN'S SYNDROME AND CELIAC DISEASE - A NEW CLINICAL ENTITY?

 

Gregorio M.G., Cataldi. L.

Dept of Paediatrics, ASL 3 Nuoro, *Dept of Paediatrics, Catholic University of the Sacred Heart - Rome, ITALY

 

BACKROUND Noonan's Sydrome (NS) is a rare disease sometimes reported as an autosomal dominant disease. Genetic studies have uncovered the gene responsible for this disease as 12q 22.qtr. This syndrome has many marked characteristics. It is associated with various pathologies such as neurofibromatosis, leukemia, haemoproliferative alterations, lymphedema, keratosis and anomalies of hair.

AIM To highlight the coexistence of NS with Celiac disease (CD), which to our knowledge has not previously been done.

CLINICAL CASE A baby girl who was born after a normal pregnancy and delivery, was found to be suffering from a congenital heart disorder. At eight days old she was transferred for corrective heart surgery of a large Ostium primum, A-type common atrio-ventricular channel, and pulmonary valve dysplasia. The baby was then taken abroad, but she continued to be followed up in our department. She underwent several tests, which resulted in the diagnosis of NS. Besides her heart condition, she also showed many typical characteristics of this syndrome. For this pathology she underwent further tests, karyotype 46xx, but AGA and antiendomisial antibodies resulted compatible with CD, this was then confirmed with a biopsy of the duodenal mucous membrane. At 4 years old she was 92.4cm tall (< 3rd c.) and her weight was 13.5kg (=3rd c.). At 5 years old her heart condition had been corrected (even if she still had a heart murmur 2/6 BSSB BSSM) she had no signs of cyanosis or cardiac failure. Her only therapy was a prophylaxis for bacterial endocarditis in line with an international protocol.

In September 1999 she started a growth hormone therapy even though her height and body weight were normal. This was prescribed by Professor Willig at the Noonan's Center in Hamburg, where our diagnosis was confirmed. She had already begun a gluten free diet six months prior to this GH therapy. This diet had already made an obvious improvement in the girl's general condition and had also resulted in a significant increase in her body weight. Moreover histology showed a normalisation of the duodenal mucous membrane.

CONCLUSION Even though growth hormones is a normal therapy in NS, the authors propose a continuous evaluation of the diet therapy and have suggested a six monthly monitoring of body and weight growth and an annual duodenal biopsy. There are no studies on the association of NS and CD in the literature. The question is, if CD is very rarely associated with NS, or if such an association is not usually studied as happens in other genetic studies for example with Down Syndrome, as seen recently, since CD in association with Down syndrome has been found to be 7-16%. whereas in the healthy population CD occurs in 1/184 (0.53%).