Septo-optic dysplasia/ Morsier’s syndrome; a disease to be suspected

نویسندگان

چکیده

Septo-optic dysplasia (SOD) or Morsier syndrome is a rare congenital malformation of infantile neurodevelopment with systemic anatomical and functional involvement. It characterized by optic nerve hypoplasia, midline brain malformation, hypothalamic-pituitary axis hypoplasia. The spectrum clinical manifestations very wide, from ophthalmological problems to endocrinological disorders that determine the severity prognosis these patients. diagnosis fundamentally clinical, based on an anamnesis systematic examination, supported complementary tests for study hormonal deficits imaging objectify structural malformations. SOD has no cure; however, close follow-up focused improving comorbidities through hormone replacement, neuropsychological support, visual correction necessary improve patient’s quality life. Its low incidence breadth forms presentation require knowledge multidisciplinary approach specialists in Pediatrics, Neurology, Endocrinology Ophthalmology, among others. We present descriptive case this disease its management.

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Septo-optic dysplasia/de Morsier's syndrome

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Septo-optic dysplasia also referred to as de Morsier syndrome and is a disorder of early brain development. Three characteristic features are under development (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain (such as absence of septum pellucidum and corpus callosum dysgenesis) and pituitary hypoplasia. CASE REPORT Female, born at 40 weeks of gest...

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ژورنال

عنوان ژورنال: Actualidad médica

سال: 2022

ISSN: ['0365-7965', '2605-2083']

DOI: https://doi.org/10.15568/am.2022.816.cc01