Septo-optic dysplasia
Septo-optic dysplasia (pronounced sep-toh-op-tik dis-play-zhuh), also known as de Morsier's syndrome, is a rare congenital malformation syndrome that features a combination of anomalies of the optic nerve, pituitary gland hypoplasia, and absence of the septum pellucidum (a thin membrane located at the mid-line of the brain).
Etymology
The term "septo-optic dysplasia" is derived from the Latin words "septum" meaning wall, "optic" referring to the eye, and "dysplasia" meaning abnormal growth or development. The condition was first described by the Swiss doctor Georges de Morsier in 1956, hence it is also known as de Morsier's syndrome.
Symptoms
The symptoms of septo-optic dysplasia can vary greatly from person to person. They may include visual impairment, hormonal imbalances, and developmental delays. Some individuals may also have seizures and learning disabilities.
Diagnosis
Diagnosis of septo-optic dysplasia is typically made based on the presence of at least two of the three main features: optic nerve hypoplasia, pituitary gland hypoplasia, and absence of the septum pellucidum. This is usually confirmed through magnetic resonance imaging (MRI).
Treatment
Treatment for septo-optic dysplasia is symptomatic and supportive. This may include hormone replacement therapy for pituitary gland hypoplasia, special education and therapies for developmental delays, and treatment for seizures if present.
Prognosis
The prognosis for individuals with septo-optic dysplasia varies depending on the severity of the symptoms. With early diagnosis and appropriate treatment, many individuals with this condition can lead normal lives.
See also
External links
- Medical encyclopedia article on Septo-optic dysplasia
- Wikipedia's article - Septo-optic dysplasia
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