Septo-optic dysplasia with amniotic band syndrome sequence: a case report

Journal of Medical Case Reports

Nicole Schoenmann¹  Mariam Mngoya²  Adelina G. Rutashobya²  Helga E. Naburi²  Karim P. Manji²  Ummulkheir H. Mohamed²  Insiyah A. Amiji² 

[1] Asklepios Klinik Barmbek;Department of Paediatric and Child Health, School of Medicine, Muhimbili University of Health and Allied Sciences;

关键词: Septo-optic dysplasia;    Amniotic band syndrome;    Optic nerve hypoplasia;    Hypopituitarism;   

DOI  :  10.1186/s13256-019-2306-2

来源: DOAJ

【 摘 要 】

Abstract Introduction De 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 presentation We 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. Conclusion De 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.

【 授权许可】

Unknown