Septooptic dysplasia (SOD)
How is it diagnosed?
SOD can be suspected in the prenatal period using ultrasound and subsequent MRI examinations of the fetus, as well as in newborns with hypoglycemia, jaundice, micropenis (with or without cryptorchidism) and nystagmus, with or without midline abnormalities (e.g., cleft palate). Clinical diagnosis requires at least two signs of the classic triad: optic nerve hypoplasia (mono- or bilateral), pituitary hormones, and defects in the midline structures of the brain. The severity varies; only 30% of patients have the full triad and most also have other symptoms associated with visual impairment ranging from nystagmus to blindness. Hypopituitarism is present in 62-80% of cases, and growth hormone deficiency is the most common endocrinological abnormality. Defects in the midline structures of the brain include agenesis of the septum (60% of cases) and / or corpus callosum. Cortical malformations (sometimes called SOD plus syndrome) have also been described. Other clinical signs include diabetes insipidus, sleep disorders, autism, premature puberty, obesity, thermoregulatory disorders, anosmia, sensorineural hearing loss, heart disease, finger abnormalities, microphthalmia, and coloboma. The diagnosis can be confirmed by ophthalmologic examination, MRI and dynamic tests of pituitary function.
How is it treated?
Treatment is symptomatic and interdisciplinary with regular follow-up. Hormone deficiency is treated with hormone replacement therapy. Children can benefit from vision and other disability rehabilitation programs and occupational therapy. The prognosis is variable and depends on the severity of the disease. Early diagnosis contributes to a better prognosis, as it allows timely management of hormonal deficiency and visual impairment