Abstract
IntroductionDe Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum pellucidum and corpus callosum dysgenesis. Diagnosis is made clinically by the presence of any two or more features from the clinical triad.Case presentationWe report a case of a premature African newborn male baby born to nonconsanguineous parents who presented to our institution with agenesis of the septum pellucidum, unilateral optic nerve hypoplasia, and pituitary stalk hypoplasia. However, he had intact central endocrine function. He also presented with limb defects due to constricting amniotic band syndrome. Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal neurological examination result. Over time, he had an adequate weight gain and was managed by a multidisciplinary team.ConclusionDe Morsier syndrome still represents a diagnostic challenge, despite advances in neuroimaging and genetic studies, due to the heterogeneous nature of the disorder. This case adds to existing knowledge on the vascular pathogenesis of septo-optic dysplasia.
Highlights
De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype
The term “septo-optic dysplasia” was coined in 1956 by de Morsier, who pointed out the association of optic nerve hypoplasia with an absence of the septum pellucidum [3]
Septo-optic dysplasia (SOD) has been used to describe a variety of clinical conditions in patients with bilateral optic nerve hypoplasia and a spectrum of midline brain defects with or without endocrinologic abnormalities (Table 1)
Summary
De Morsier syndrome (SOD) still represents a diagnostic challenge. Standard diagnostic criteria together with a high index of suspicion in the evaluation of patients with midline defects, optic nerve hypoplasia, and/or hypopituitarism is important for accurate detection. Identification of different phenotypic profiles within the disease spectrum can allow more targeted follow-up of these children to reduce disease-related morbidity and mortality, which may prevent life-threatening sequelae. This case adds to the existing knowledge on the vascular etiology of SOD
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