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[Johanson-Blizzard syndrome: a case report].

J N Mcheik¹, L Hendiri, P Vabres

¹Service de chirurgie pédiatrique, centre hospitalo-universitaire de Poitiers, rue de la milétrie, 86021 Poitiers, France. jiadmcheik@yahoo.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie

|December 31, 2002

Summary

Johanson-Blizzard syndrome is a rare genetic disorder. This case highlights a male infant with congenital skin defects, anorectal malformation, and pancreatic insufficiency, emphasizing the need for early intervention.

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Area of Science:

Genetics
Pediatrics
Endocrinology

Background:

Johanson-Blizzard syndrome is a rare autosomal recessive disorder.
Characterized by congenital aplasia of the cutis, alae nasi, hearing loss, dental, and pancreatic abnormalities.

Observation:

A sporadic case of a male infant from nonconsanguineous parents is presented.
The infant exhibited aplasia of the cutis and high anorectal malformation.
Exocrine pancreatic insufficiency was also noted.

Findings:

The infant required a colostomy at birth for anorectal malformation.
Surgical correction of anorectal atresia was performed at two months.
Immediate enzyme supplementation was necessary for exocrine pancreatic insufficiency.

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Implications:

This case expands the understanding of Johanson-Blizzard syndrome presentations.
Highlights the importance of early diagnosis and management of associated anomalies.
Emphasizes the critical role of enzyme replacement therapy in improving outcomes.