title: Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children.
abstract: BACKGROUND
  Septo-optic dysplasia (SOD), also known as de-Morsier's syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia (ONH), pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits.
  
  
  OBJECTIVE
  To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis.
  
  
  METHODS
  A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital (SQUH) who were diagnosed to have ONH. All relevantdemographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist.
  
  
  RESULTS
  Five patients (four males, one female) with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment (5/5), neonatal hypoglycemia (3/5), seizure disorder (2/5), and failure to thrive (4/5). ONH was bilateral in 3/5 patients and unilateral in (2/5). Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum (3/5), severe corpus callosum agenesis (1/5), ectopic pituitary (5/5), falx cerebri deficiency (1/5), optic nerve hypoplasia (5/5), optic chiasmal hypoplasia (5/5), and olfactory tract hypoplasia (1/5). Endocrine deficits were detected in 4/5 patients (3 with panhypopituitarism, and 1 with growth hormone deficiency) and necessitated replacement therapy.
  
  
  CONCLUSIONS
  SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving.
authors.affiliation: Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
authors.forename: Rana
authors.initials: R
authors.lastname: Al-Senawi
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
authors.forename: Bushra
authors.initials: B
authors.lastname: Al-Jabri
authors.affiliation: Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
authors.forename: Sana
authors.initials: S
authors.lastname: Al-Zuhaibi
authors.affiliation: Department of Radiology and Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Faisal
authors.initials: F
authors.lastname: Al-Azri
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
authors.forename: Saif
authors.initials: S
authors.lastname: Al-Yarubi
authors.affiliation: Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
authors.forename: Beena
authors.initials: B
authors.lastname: Harikrishna
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
authors.forename: Amna
authors.initials: A
authors.lastname: Al-Futaisi
authors.affiliation: Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
authors.forename: Anuradha
authors.initials: A
authors.lastname: Ganesh
keywords: De-Morsier's syndrome; Septo-optic dysplasia; hypopituitarism; midline brain defects; optic nerve hypoplasia