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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
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