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662 Image Syndrome: First North African Description
  1. N Boutrid1,
  2. H Rahmoune1,
  3. H Boutrid2,
  4. N Boughaba3,
  5. FC Rahmoune4,
  6. B Bioud1
  1. 1Pediatrics, University Hospital of Setif, Setif
  2. 2Obstetrics & Gynecology, Bab El-Oued University Hospital, Algiers
  3. 3Pediatric Surgery, EHS Mère-Enfant, Constantine, Algeria
  4. 4Anesthésie-Réanimation, AP-HP, Hôpital Bicêtre, Paris, France

Abstract

Introduction If the diagnosis of adrenal insufficiency (IS) with salt loss is quite common, some forms deserve particular attention.

Description A 40 days infant, twin born SGA is admitted for severe dehydration with impaired general condition. The physical examination found a right inguinal hernia and hypospadias. No dysmorphia is highlighted.

The assessment carried outhypoglycemia with hyponatremia and hyperkalemia. Rehydration with IV corticosteroid therapy is then initiated based hydrocrtisone.

The association Inguinal Hernia-IS-Hypospadias is a rare form of congenital deficiencies in adrenal enzymes: IMAGe syndrome associating intrauterine growth retardation (I), metaphyseal dysplasia (M), adrenal hypoplasia (A), genital abnormalities (Ge).

A radiograph of the members is requested and returns, at first, normal; but progressive dysplasia is noted after 1 year.

Discussion The causes of neonatal adrenal insufficiency are a heterogenous group.

The sexual ambiguity, the association with clinical and laboratory diagnosis led to a such rare diagnosis. Genetic analysis was not yet performed.

The acronym IMAGe (OMIM 300290) was individualized in 1999 by Naughty & Al.

This condition can be added later by a dyplasie metaphyseal, but the exact cause remains unknown In 2008, a Japanese team emphasized the radiological monitoring of these children.

Conclusion Advances in genetics still perplexing in some forms of neonatal IS, despite the role better and better established SF-1 gene DAX-1 & IMAGe syndrome is a perfect example: association of clinical and radiological signs of unknown origin described in the five continents.

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