Outcome of Neonates with Agenesis of Septum Pellucidum: A Retrospective Single Center Study
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Purpose: Agenesis of the septum pellucidum (ASP) is a very rare disease that can be isolated or associated with other brain abnormalities. The neurological prognosis of isolated ASP remains controversial. The aim of this study was to evaluate the clinical outcome of neonates with ASP. Methods: We retrospectively analyzed the medical records of 12 neonates with isolated ASP or ASP combined with other brain abnormalities who were born at Cheil General Hospital & Women's Healthcare Center between January 2007 and December 2017. Results: Of the 12 neonates, six were identified prenatally and six were identified postnatally. Isolated ASP was found in eight neonates; of these, four were detected antenatally. ASP associated with other brain abnormalities was found in four neonates. ASP was complete in nine neonates, including six with isolated ASP, and partial in three, including two with isolated ASP. Six of the eight neonates with isolated ASP had normal neurological development, except two who were lost to follow-up. Among the four neonates with other associated brain abnormalities, two had delayed motor development and a seizure, one had normal development, and one was lost to follow-up. In all neonates, ophthalmological examination revealed no optic nerve abnormalities. Conclusion: Isolated ASP seems to have a good neurological prognosis without ocular problems. This result needs to be confirmed by larger prospective studies over a longer developmental timeline.
Abstract
Purpose: Agenesis of the septum pellucidum (ASP) is a very rare disease that can be isolated or associated with other brain abnormalities. The neurological prognosis of isolated ASP remains controversial. The aim of this study was to evaluate the clinical outcome of neonates with ASP. Methods: We retrospectively analyzed the medical records of 12 neonates with isolated ASP or ASP combined with other brain abnormalities who were born at Cheil General Hospital & Women's Healthcare Center between January 2007 and December 2017. Results: Of the 12 neonates, six were identified prenatally and six were identified postnatally. Isolated ASP was found in eight neonates; of these, four were detected antenatally. ASP associated with other brain abnormalities was found in four neonates. ASP was complete in nine neonates, including six with isolated ASP, and partial in three, including two with isolated ASP. Six of the eight neonates with isolated ASP had normal neurological development, except two who were lost to follow-up. Among the four neonates with other associated brain abnormalities, two had delayed motor development and a seizure, one had normal development, and one was lost to follow-up. In all neonates, ophthalmological examination revealed no optic nerve abnormalities. Conclusion: Isolated ASP seems to have a good neurological prognosis without ocular problems. This result needs to be confirmed by larger prospective studies over a longer developmental timeline.
참고문헌 (20)
- Barkovich AJ, "Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations", AJR Am J Roentgenol, 152, pp.353~360 (1989)
- Sarwar M., "The septum pellucidum: normal and abnormal", AJNR Am J Neuroradiol, 10, pp.989~1005 (1989)
- Schaefer GB, "Subtle anomalies of the septum pellucidum and neurodevelopmental deficits", Dev Med Child Neurol, 36, pp.554~559 (1994)
- Malinger G, "Differential diagnosis in fetuses with absent septum pellucidum. Ultrasound Obstet", Ultrasound Obstet Gynecol, 25, pp.42~49 (2005)
- Damaj L, "Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesis", Prenat Diagn, 30, pp.1143~1150 (2010)
- Kwak JG, "A patient with septo-optic dysplasia plus", J Neurol Sci, 264, pp.166~167 (2008)
- 김종현, "양측성 비폐쇄성 수신증 및 중추성 요붕증을 유발한 중격-시신경 형성장애 1예", 대한내과학회지, 87(2), pp.209~214 (2014), 대한내과학회[DOI]
- 전이경, "Absence of the Septum Pellucidum Associated with a Midline Fornical Nodule and Ventriculomegaly: A Report of Two Cases", Journal of Korean Medical Science, 25(6), pp.970~973 (2010), 대한의학회
- Vawter-Lee MM, "Outcome of isolated absent septum pellucidum diagnosed by fetal magnetic resonance imaging (MRI) scan", J Child Neurol, 33, pp.693~699 (2018)
- Garcia-Arreza A, "Isolated absence of septum pellucidum: prenatal diagnosis and outcome", Fetal Diagn Ther, 33, pp.130~132 (2013)
- Aldur MM, "Frequency of septum pellucidum anomalies in non-psychotic population: a magnetic resonance imaging study", Surg Radiol Anat, 21, pp.119~123 (1999)
- Wolf SS, "Malformations of the septum pellucidum: two distinctive cases in association with schizophrenia", J Psychiatry Neurosci, 19, pp.140~144 (1994)
- Belhocine O, "Does asymptomatic septal agenesis exist? A review of 34 cases", Pediatr Radiol, 35, pp.410~418 (2005)
- Hellstrom A, "Children with septo-optic dysplasia: how to improve and sharpen the diagnosis", Horm Res, 53(Suppl 1), pp.19~25 (2000)
- Izenberg N, "The endocrine spectrum of septo-optic dysplasia", Clin Pediatr (Phila), 23, pp.632~636 (1984)
- Cameron FJ, "Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum", Eur J Pediatr, 158, pp.97~102 (1999)
- Barkovich AJ, "Septo-optic dysplasia: MR imaging", Radiology, 171, pp.189~192 (1989)
- Birkebaek NH, "Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature", J Pediatr, 145, pp.536~541 (2004)
- Garcia-Filion P, "Brain malformations do not predict hypopituitarism in young children with optic nerve hypoplasia", Horm Res Paediatr, 88, pp.251~257 (2017)
- Raybaud C, "Schizencephaly: correlation between the lobar topography of the cleft(s) and absence of the septum pellucidum", Childs Nerv Syst, 17, pp.217~222 (2001)