Issue 1/2023
Deneva1, D., Bozhinova1, V., Rodopska1, E., Koleva1,3, M., Alexandrova1,3, I.
Assenova1,3, A., Slavkova1, E., Tomov1, V., Topalov2,3, N.
1 Clinic of Nervous Diseases for Children, University Hospital, St. Naum”- Sofia
2 Department of Radiology, University Hospital, St. Naum ”- Sofia
3 Medical University, Sofia
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, was first described by Reeves in 1941 as the absence of septum pellucidum in optic nerve abnormalities. Subsequently, an association with pituitary dysfunction has been reported. The diagnosis of SOD can be made when there are two or more signs of the classical triad: hypoplasia/optic nerve dysplasia; hypoplasia or lack of septum pellucidum, often of the corpus callosum; hypothalamic-pituitary dysfunction – from isolated deficiency to panhypopituitarism. This constellation of lesions may include related brain abnormalities – schizencephaly, cortical dysplasia, cerebellar hypoplasia, hypoplasia or agenesis of the olfactory bulb/nerve. Thus, SOD is discussed rather as a complex syndrome, with a frequency of 1/100 000, without sexual prevalence. SOD can occur at birth in combination with multiple congenital anomalies or much later, with growth retardation or with mild visual disturbances. Clinically, the diagnosis should be suspected in neonates with hypoglycaemia, jaundice, micropenis, with or without testicular descent, nystagmus, with or without midline
abnormalities, such as cleft palate and mouth. The earlier the diagnosis is made, the better the result, because untreated, hormonal deficiency further complicates the adaptation of a child with visual impairment, also puts the patient at risk of hypoglycemia, adrenal crises and subsequent death. Three cases of septo-otic dysplasia are presented, accompanied by additional neurological pathology, which confirms the clinical heterogeneity and variability of the syndrome. Attention should be focused on early diagnosis and recognition of this complex disorder in order to influence the sometimes life-threatening endocrine disorders. A multidisciplinary team approach is needed in the diagnosis and treatment of these patients, including a pediatric endocrinologist, pediatric neurologist and ophthalmologist. Depending on the condition, hormone replacement and antiepileptic therapy is performed, as well as treatment of refractive errors.
Address for correspondence:
D. Deneva
Clinic of Nervous Diseases for Children, University Hospital, St. Naum”- Sofia
Dianabad, 1113
Sofia, Bulgaria