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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 21, No. 3, 2011, pp. 399-403
Bioline Code: pe11067
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 21, No. 3, 2011, pp. 399-403

 en Pelizaeus-Merzbacher Disease: the First Genetically Approved Case Report from Iran
Ashrafi, Mahmoud-Reza; Mohammadi, Mahmoud; Alizadeh, Hooman & Nikkhah, Ali

Abstract

Background: McCune-Albright syndrome (MAS) is a rare non-inherited disorder characterized by the clinical triad of precocious puberty, cafe-au-lait skin lesions, and fibrous dysplasia of bone.
Case Presentation: We report a girl with MAS, presenting initially with vaginal bleeding at the age of 17 months. Ultrasonography revealed unilateral ovarian cysts and ureteral and ovarian enlargement. Considering the clinical and paraclinical findings, the patient diagnosed as a case of gonadotropin-independent precocious puberty was treated with medroxy-progestrone acetate (MPA) for three months. During the follow up, recurrent episodes of bleeding, ovarian activation and cyst formation, as well as breast size development were reported. At the age of 5.5 years, fibrous dysplasia was detected, which in coexistence with precocious puberty confirmed the diagnosis of MAS. The patient had no cafe-au-lait skin macles during follow up.
Conclusion: Considering that clinical manifestations of MAS appear later in the course of recurrent periods of ovarian activation and cyst formation, a careful clinical observation and follow up of patients is necessary and the diagnosis of MAS must be kept in mind in cases with gonadotropinindependent precocious puberty.

Keywords
McCune-Albright Syndrome; Bleeding; Fibrous Dysplasia of Bone; Precocious Puberty

 
© Copyright 2011 Iran Journal of Pediatrics.
Alternative site location: http://diglib.tums.ac.ir/pub/

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