septo optic dysplasia

Summary

Summary: A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.

Top Publications

  1. Rainbow L, Rees S, Shaikh M, Shaw N, Cole T, Barrett T, et al. Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf). 2005;62:163-8 pubmed
    ..There are few data on UK children. We have performed mutation analysis in a large cohort of affected children within the West Midlands region to assess the feasibility of a screening strategy for molecular diagnosis in CPHD and SOD...
  2. Spinosa M, Liberalesso P, Vieira S, Lohr A. De Morsier syndrome associated with periventricular nodular heterotopia: case report. Arq Neuropsiquiatr. 2007;65:693-6 pubmed
    ..Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction...
  3. Stevens C, Dobyns W. Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis. Am J Med Genet A. 2004;125A:12-6 pubmed
    ..This hypothesis is also supported by the sporadic occurrence of SOD and its association with decreased maternal age, vascular teratogens, and neuropathologic findings suggestive of vascular insults...
  4. Bini P, Montalbetti L, Tosca P, Ratti M, Uggetti C, Moglia A, et al. Septo-optic dysplasia and psychiatric disorders: a case report. Cogn Behav Neurol. 2008;21:254-7 pubmed publisher
    ..Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated in psychiatric disturbances...
  5. Wakeling E, Dattani M, Bloch Zupan A, Winter R, Holder S. Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. Clin Dysmorphol. 2003;12:105-7 pubmed
    ..However, none can account for all the abnormalities seen. We therefore believe that this is a previously unreported, but highly distinctive, phenotype...
  6. de la Mata I, Garcia J, Gonzalez C, Menendez M, Cañada J, Jimenez Barbero J, et al. The impact of R53C mutation on the three-dimensional structure, stability, and DNA-binding properties of the human Hesx-1 homeodomain. Chembiochem. 2002;3:726-40 pubmed
  7. Chiu H, Kletter G. Remission of congenital diabetes insipidus after eight years. J Pediatr Endocrinol Metab. 2007;20:733-7 pubmed
    ..This is the first report of a patient with SOD with spontaneous resolution of congenital DI...
  8. Díaz Rubio J, González Carrillo C, Fernández De Ortega L, Otaolaurruchi Solís O, Torres Bernal L, Quiroz Mercado H, et al. [Septo-optic dysplasia (Morsier's syndrome): a case report]. Rev Neurol. 2008;47:247-8 pubmed
  9. Tanrikulu F, Korucuoglu U, Efeturk T, Yildirim F, Biri A. Recurrent septo-optic dysplasia accompanied by omphalocele: a case report. Fetal Diagn Ther. 2009;25:119-22 pubmed publisher
    ..We here present a unique case of septo-optic dysplasia with familial repetition, a considerably early antenatal diagnosis and an accompanying omphalocele, a feature never before connected with the syndrome...

More Information

Publications62

  1. Minami K, Izumi G, Yanagawa T, Shimoyamada Y, Yoshikawa N. Septo-optic dysplasia with congenital hepatic fibrosis. Pediatr Neurol. 2003;29:157-9 pubmed
  2. Patel L, McNally R, Harrison E, Lloyd I, Clayton P. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006;148:85-8 pubmed
    ..To study the distribution of septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH) in the Greater Manchester and Lancashire (GM&L) region of Northwest England, and to analyze occurrence by location and over time...
  3. Brooks D, Subramanian P. Monocular temporal hemianopia with septo-optic dysplasia. J Neuroophthalmol. 2006;26:195-6 pubmed
    ..This is the first report to demonstrate this visual field defect together with bowtie optic nerve hypoplasia...
  4. McNay D, Turton J, Kelberman D, Woods K, Brauner R, Papadimitriou A, et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab. 2007;92:691-7 pubmed
    ..Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis...
  5. Harrison I, Brosnahan D, Phelan E, Fitzgerald R, Reardon W. Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome. Am J Med Genet A. 2004;131:82-5 pubmed
    ..We now add a further case and present neuroradiological images of the CNS findings in this condition. The striking consistency of the limb malformations and their overlap with the Streeter's band phenotype is emphasized...
  6. Gasparetto E, Warszawiak D, de Carvalho Neto A, Benites Filho P, Bruck I, Antoniuk S. Septo-optic dysplasia plus: case report. Arq Neuropsiquiatr. 2003;61:671-6 pubmed
    ..She was referred to visual stimulation and physiotherapy. We emphasize the neuroimaging of this syndrome and stress the importance of the clinical investigation for patients with septum pellucidum dysgenesis on MRI or CT scans...
  7. Camino R, Arjona A. Septo-optic dysplasia plus. Lancet Neurol. 2003;2:436 pubmed
  8. Hahn J, Barnes P. Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet. 2010;154C:120-32 pubmed publisher
    ..The severity of the abnormalities in these structures determines the severity of the neurodevelopmental outcome and associated sequelae...
  9. Rivkees S. Rest-activity patterns in children with hypopituitarism. Pediatrics. 2003;111:e720-4 pubmed
    ..To address this issue, we examined patterns of rest and activity of children with hypopituitarism...
  10. Maeda T, Akaishi M, Shimizu M, Sekiguchi K, Anan A, Takano T, et al. The subclassification of schizencephaly and its clinical characterization. Brain Dev. 2009;31:694-701 pubmed publisher
    ..The SOD group means early fetal brain injury which results in extended cortical dysplasia while the OHP group means severe destructive brain injury which results in cerebro-cerebellar disruption...
  11. Sajedi E, Gaston Massuet C, Signore M, Andoniadou C, Kelberman D, Castro S, et al. Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. Dis Model Mech. 2008;1:241-54 pubmed publisher
    ..Together, these results suggest that the I26T mutation yields a hypomorphic allele, whereas R160C produces a null allele and, consequently, a more severe phenotype in both mice and humans...
  12. Dattani M. Structural hypothalamic defects. J Pediatr Endocrinol Metab. 2002;15 Suppl 5:1423-4 pubmed
  13. Orrico A, Galli L, Zappella M, Monti L, Vatti G, Venturi C, et al. Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy. Eur J Neurol. 2002;9:679-82 pubmed
    ..The neurologic abnormalities and the clinical history of the patient are extensively reviewed. The need to include the SOD phenotype amongst the possible teratogenic effects of multidrug abuse is evidenced...
  14. Riedl S, Müllner Eidenböck A, Prayer D, Bernert G, Frisch H. Auxological, ophthalmological, neurological and MRI findings in 25 Austrian patients with septo-optic dysplasia (SOD). Preliminary data. Horm Res. 2002;58 Suppl 3:16-9 pubmed
    ..MRI shows aplasia/hypoplasia of the septum pellucidum and corpus callosum as a radiological hallmark. For etiology, genetic defects (Hesx1/HESX1 gene) as well as vascular disruption during embryonic brain development are discussed...
  15. Dattani M, Robinson I. HESX1 and Septo-Optic Dysplasia. Rev Endocr Metab Disord. 2002;3:289-300 pubmed
  16. Nakagaki H, Furuya H, Murai H, Ohyagi Y, Yamada T, Kira J, et al. [A variant form of septo-optic-pituitary dysplasia (SOPD) complicated with acute optic neuritis]. Rinsho Shinkeigaku. 2001;41:198-201 pubmed
    ..P100 of the left eye showed a reduction in latency four months after discharge. This case was considered to be a variant form of SOPD complicated by acute optic neuritis...
  17. Anderson M. Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia. Clin Exp Optom. 2009;92:38-41 pubmed publisher
    ..She was subsequently diagnosed with septo-optic dysplasia with sectoral optic nerve head hypoplasia...
  18. Ni H, Liu H, Tseng M. Electroconvulsive therapy of a depressed patient with septo-optic dysplasia. J Neuropsychiatry Clin Neurosci. 2008;20:242-3 pubmed publisher
  19. Kelberman D, Dattani M. Septo-optic dysplasia - novel insights into the aetiology. Horm Res. 2008;69:257-65 pubmed publisher
    ..We have reviewed recent literature selecting relevant references based on the keywords HESX1, SOX2, SOX3, Septo-optic dysplasia, genetics and pituitary development...
  20. Temtamy S, Aglan M, Ashour A, El Badry T. Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia. Clin Dysmorphol. 2010;19:14-22 pubmed publisher
    ..We draw attention to the phenotypic overlap between the disorganization-like syndrome and septo-optic dysplasia with limb anomalies...
  21. Carman K, Yarar C, Yakut A, Adapinar B. Septo-optic dysplasia plus: a patient with diabetes insipidus. Pediatr Neurol. 2010;43:76-8 pubmed publisher
    ..Reports on patients with septo-optic dysplasia-plus have been rare. We describe a 4-year-old girl with septo-optic dysplasia-plus syndrome, characterized by septo-optic dysplasia with schizencephaly, pachygyria, and diabetes insipidus...
  22. Brickman J, Clements M, Tyrell R, McNay D, Woods K, Warner J, et al. Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. Development. 2001;128:5189-99 pubmed
    ..Our data suggest a possible molecular paradigm for the dominant inheritance observed in some pituitary disorders...
  23. Antonini S, Grecco Filho A, Elias L, Moreira A, Castro M. Cerebral midline developmental anomalies: endocrine, neuroradiographic and ophthalmological features. J Pediatr Endocrinol Metab. 2002;15:1525-30 pubmed
    ..Hypopituitarism may occur in patients with midline cerebral defects (MCD), including septo-optic dysplasia (SOD). HESX1 gene mutations have been associated with SOD...
  24. Cohen R, Cohen L, Botero D, Yu C, Sagar A, Jurkiewicz M, et al. Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia. J Clin Endocrinol Metab. 2003;88:4832-9 pubmed
    ..These data suggest that enhancement of transcriptional repression during pituitary organogenesis is a novel mechanism for the development of congenital pituitary disorders...
  25. Oster S, Deiner M, Birgbauer E, Sretavan D. Ganglion cell axon pathfinding in the retina and optic nerve. Semin Cell Dev Biol. 2004;15:125-36 pubmed
    ..Together, these strategies ensure proper optic nerve formation and establish the anatomical pathway for faithful transmission of information between the retina and the brain...
  26. Webb E, O Reilly M, Orgill J, Dale N, Salt A, Gringras P, et al. Rest-activity disturbances in children with septo-optic dysplasia characterized by actigraphy and 24-hour plasma melatonin profiles. J Clin Endocrinol Metab. 2010;95:E198-203 pubmed publisher
    ..However, no objective measurements of sleep/activity patterns with 24-h melatonin profiles have been published for these individuals, and the pathophysiological basis underlying sleep disorders in SOD remains largely unknown...
  27. Coya R, Vela A, Perez de Nanclares G, Rica I, Castano L, Busturia M, et al. Panhypopituitarism: genetic versus acquired etiological factors. J Pediatr Endocrinol Metab. 2007;20:27-36 pubmed
    ..Indeed, it has been suggested that environmental rather than genetic factors could be important in the pathogenesis of CPHD...
  28. Ang C. Septooptic dysplasia. Med J Malaysia. 2002;57:487-9 pubmed
  29. Kamien B, Zankl A, Gabbett M. Septo-optic dysplasia and associations with amyoplasia and gastroschisis. Birth Defects Res A Clin Mol Teratol. 2010;88:497-501 pubmed publisher
    ..The causes of septo-optic dysplasia, amyoplasia, and gastroschisis are mostly unknown...
  30. Miranda L, Esparza J, Arteche E. [Case imaging: 3.--Septo-optic dysplasia]. Radiologia. 2007;49:338, 372 pubmed
  31. Donahue S, Lavina A, Najjar J. Infantile infection and diabetes insipidus in children with optic nerve hypoplasia. Br J Ophthalmol. 2005;89:1275-7 pubmed
    ..Hormonal dysfunction, caused by anterior (cortisol) and posterior (ADH) pituitary involvement, can be sudden, severe, and life threatening...
  32. Periakaruppan A, Pendharkar H, Gupta A, Thomas B, Kesavdas C. Septo-optic dysplasia with encephalocele. J Clin Neurosci. 2009;16:1665-7 pubmed publisher
    ..We report the first case of septo-optic dysplasia associated with encephalocele, partial callosal agenesis, polymicrogyria and subcortical nodular heterotopia...
  33. Weinstein A, Goldstein R. Case 12. Absent septum or septo-optic dysplasia (magnetic resonance imaging not yet performed). J Ultrasound Med. 2002;21:598, 617 pubmed
  34. Bin Abbas B, Al Ashwal A, Al Alwan I, Al Qahtani M, Al Mutair A, Sakati N. The syndrome of septo-optic dysplasia in Saudi children. Saudi Med J. 2004;25:1675-8 pubmed
    ..To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism...
  35. Amatyakul P, Panthasri T, Vutyavanich T. Septo-optic dysplasia associated with abnormal pubertal development. J Med Assoc Thai. 2007;90:1239-43 pubmed
    ..In the present report, the authors described two SOD cases that presented with primary amenorrhea and abnormal pubertal development. Clinical features. Possible etiology of this condition was reviewed..
  36. Smith M, Strottmann J. Imaging of the optic nerve and visual pathways. Semin Ultrasound CT MR. 2001;22:473-87 pubmed
  37. Singh V, Boesel C, Baker P. Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy. Clin Neuropathol. 2004;23:28-33 pubmed
    ..Many of these pathological changes overlap the findings previously described in 18q deletion. An understanding of the pathological changes in the brain of these individuals provides the basis for therapeutic management of their symptoms...
  38. Corneli G, Vivenza D, Prodam F, Di Dio G, Vottero A, Rapa A, et al. Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia. J Endocrinol Invest. 2008;31:689-93 pubmed
  39. Hung J, Shen S, Guo W, Chen C, Chao K, Yang M, et al. Prenatal diagnosis of schizencephaly with septo-optic dysplasia by ultrasound and magnetic resonance imaging. J Obstet Gynaecol Res. 2008;34:674-9 pubmed publisher
    ..The flaccid mobility of all four extremities of the fetus, demonstrated prenatally by real-time ultrasound and functional MRI, forecast the risk of postnatal spastic quadriplegia...
  40. Borchert M, Garcia Filion P. The syndrome of optic nerve hypoplasia. Curr Neurol Neurosci Rep. 2008;8:395-403 pubmed
    ..Adverse outcomes can often be ameliorated with early intervention. Thus, the syndrome of ONH should be suspected in all infants with signs of hypothalamic dysfunction or vision impairment...
  41. Misra S, Johnston L, Drake W. Severe hypernatraemia associated with growth hormone replacement therapy in a patient with septo-optic dysplasia. Pituitary. 2010;13:186-8 pubmed publisher
    ..Growth hormone deficiency (GHD) results in salt and water depletion and studies confirm that replacement leads to sodium and vasopressin-mediated water retention in patients with intact posterior pituitary function...
  42. Polizzi A, Pavone P, Iannetti P, Manfrè L, Ruggieri M. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. Pediatr Neurol. 2006;34:66-71 pubmed
  43. Mitchell L, Thomas P, Zacharin M, Scheffer I. Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?. AJNR Am J Neuroradiol. 2002;23:1475-81 pubmed
  44. Murray P, Paterson W, Donaldson M. Maternal age in patients with septo-optic dysplasia. J Pediatr Endocrinol Metab. 2005;18:471-6 pubmed
    ..To determine whether patients with septooptic dysplasia (SOD) are of normal birth weight and gestation but are born to mothers who are significantly younger than average...
  45. Hayakawa K. [Two-year-old boy with nystagmus and visual disturbance]. No To Hattatsu. 2008;40:275-6 pubmed
  46. Travan L, Oretti C, Zennaro F, Demarini S. Marshall-Smith syndrome and septo-optic dysplasia: an unreported association. Am J Med Genet A. 2008;146A:2138-40 pubmed publisher
    ..We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall-Smith syndrome, had septo-optic dysplasia...
  47. Chow C, Kapur R, Wood M, Setabutr P, Tu E. Septo-optic dysplasia with bilateral congenital corneal anesthesia. J AAPOS. 2009;13:494-5 pubmed publisher
    ..The purpose of this report is to make pediatric ophthalmologists aware of a potential association since the diagnosis of congenital corneal anesthesia is often difficult and delayed...
  48. Fahnehjelm K, Fischler B, Jacobson L, Nemeth A. Optic nerve hypoplasia in cholestatic infants: a multiple case study. Acta Ophthalmol Scand. 2003;81:130-7 pubmed
    ..To present four infants with optic nerve hypoplasia and cholestasis...
  49. Schoth F, Krings T. Diffusion-tensor imaging in septo-optic dysplasia. Neuroradiology. 2004;46:759-63 pubmed
    ..One might presume, that, in order for the optic radiation to fully develop, an afferent input to the lateral geniculate body is necessarry...
  50. Langmann A, Lindner S. Congenital third nerve palsy in septo-optic dysplasia. Br J Ophthalmol. 2004;88:969 pubmed
  51. Birkebaek N, Patel L, Wright N, Grigg J, Sinha S, Hall C, et al. 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. 2004;145:536-41 pubmed
    ..To objectively define criteria for intracranial optic nerve (ON) size in ON hypoplasia (ONH) on magnetic resonance imaging (MRI) scans...
  52. Bergson J, Garg V, Chang J. Ectopic posterior pituitary lobe and cortical dysplasia. AJNR Am J Neuroradiol. 2007;28:198-9; author reply 199 pubmed
  53. Fard M, Wu Chen W, Man B, Miller N. Septo-optic dysplasia. Pediatr Endocrinol Rev. 2010;8:18-24 pubmed
    ..A life-long multidisciplinary approach is crucial in the management of these patients to optimize their growth and development and to help them lead as normal lives as possible...