Document Detail

Refining clinical phenotypes in septo-optic dysplasia based on MRI findings.
MedLine Citation:
PMID:  18231810     Owner:  NLM     Status:  MEDLINE    
Septo-optic dysplasia (SOD) is a heterogeneous brain midline anomaly associated with ophthalmological, endocrinological, and/or neurodevelopmental symptoms. The clinical phenotype correlates with abnormal brain magnetic resonance imaging (MRI) findings. However, variations of the septum pellucidum (SP) appearance and their clinical impact have not been studied in depth. Sixty-eight patients with optic nerve hypoplasia (ONH) were investigated for the presence of associated SP anomalies and correlations between clinical findings and their MRI abnormalities established. Thirty patients had either complete (n = 22) or partial (n = 8) absence of the SP. Pituitary hormone deficiencies were present in 64% or 25% of the cases, respectively. Neurological symptoms did not occur in patients with SP remnants or unilateral ONH. Hippocampus abnormalities (43%) that have not been described before in SOD and falx abnormalities (17%) correlated significantly with neurological symptoms and developmental delay (p < 0.05 and p < 0.01, respectively). Maternal age at birth was low (21.2 years) and drug abuse during pregnancy was reported in 27% of the patients. Twelve patients with pituitary anomaly and ONH but normal SP showed similar clinical and MRI features, and were classified as SOD-like. The remaining 26 patients were not assigned to SOD. We conclude that unilateral ONH and SP remnants are associated with a milder SOD phenotype. Hippocampus abnormalities and falx abnormalities seem to constitute important features of severe clinical disease, irrespective of SP appearance. Our anamnestic data support the hypothesis of vascular disruption during embryogenesis.
Stefan Riedl; Jan Vosahlo; Tadej Battelino; Branka Stirn-Kranjc; Peter C Brugger; Daniela Prayer; Andrea Müllner-Eidenböck; Klaus Kapelari; Peter Blümel; Thomas Waldhör; Jan Krasny; Jan Lebl; Herwig Frisch
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-01-30
Journal Detail:
Title:  European journal of pediatrics     Volume:  167     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2008-09-16     Completed Date:  2009-03-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1269-76     Citation Subset:  IM    
Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
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MeSH Terms
Brain Diseases / pathology*
Child, Preschool
Hippocampus / abnormalities
Infant, Newborn
Magnetic Resonance Imaging*
Optic Nerve / pathology*
Optic Nerve Diseases / pathology*
Pituitary Hormones / deficiency
Septum Pellucidum / pathology*
Severity of Illness Index
Reg. No./Substance:
0/Pituitary Hormones

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