同: SOD

WordNet

optical properties; "the optics of a telescope"
the branch of physics that studies the physical properties of light
abnormal development (of organs or cells) or an abnormal structure resulting from such growth

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/07/04 01:21:03」(JST)

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Septo-optic dysplasia (SOD), (de Morsier syndrome)^[1]^[2] is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain). Two of these features need to be present for a clinical diagnosis — only 30% of patients have all three.^[3]

Neuroradiologically, intracranial malformations associated with septo-optic dysplasia include agenesis of the septum pellucidum, schizencephaly, and lobar holoprosencephaly.

Presentation

Optic nerve

The optic nerve hypoplasia is generally manifested by nystagmus (involuntary eye movements, often side-to-side) and a smaller-than-usual optic disc. The degree of visual impairment is variable, and ranges from normal vision to complete blindness. When nystagmus develops, it typically appears by 1–8 months of age, and usually indicates that there will be a significant degree of visual impairment, but the severity is difficult to predict in infancy. Although there are many measures to compensate for visual impairment, there are few treatments available to induce normal optic nerve function.^[4]

Pituitary

The degree of pituitary deficiency is also variable, and ranges from normal function, to deficiency of both anterior and posterior hormones. It is often unclear if the hypopituitarism is due to a primary pituitary dysfunction or is secondary to a hypothalamic dysfunction. Hypopituitarism in this syndrome is most often manifested by growth hormone deficiency. If severe, it can lead to diagnosis in the first days of life by causing hypoglycemia, jaundice, and micropenis (if a boy). The cause of the jaundice is unknown, and an unusual aspect of it (compared to most neonatal jaundice) is that it can be largely a conjugated (direct) hyperbilirubinemia suggestive of obstructive liver disease. It typically resolves over several weeks once hormone replacement is begun. All of the pituitary hormones can be replaced, and this is the treatment for deficiencies. Septo-optic dysplasia is one of the most common forms of congenital growth hormone deficiency.

Septum pellucidum

The brain effects are also variable. Seizures sometimes occur. Prediction of intellectual outcome in infancy is difficult. Various types of early intervention or equivalent programs can help a child reach full developmental potential.

Variability

Septo-optic dysplasia is a highly variable disorder. It is rare for siblings to present with identical features of the septo-optic dysplasia spectrum. Many patients present with additional developmental defects outside the septo-optic dysplasia triad. In particular digital defects are common.

Causes

Septo-optic dysplasia is a developmental disorder resulting from a defect of normal embryological development. There is no single cause of septo-optic dysplasia. Septo-optic dysplasia has been linked to young maternal age.^[5]

Genetic

Rare familial recurrence has been reported, suggesting at least one genetic form (HESX1).^[6] In addition to HESX1, mutations in OTX2, SOX2 and PAX6 have been implicated in de Morsier syndrome,^[7] but in most cases SOD is a sporadic birth defect of unknown cause and does not recur with subsequent pregnancies.^{[citation needed]}

Valproate toxicity

Valproate toxicity in utero has been implicated as a possible etiology of septo-optic dysplasia.^[8]

Diagnosis

Treatment

References

^ synd/2548 at Who Named It?
^ G. de Morsier. Études sur les dysraphies, crânioencéphaliques. III. Agénésie du septum palludicum avec malformation du tractus optique. La dysplasie septo-optique. Schweizer Archiv für Neurologie und Psychiatrie, Zurich, 1956, 77: 267-292.
^ Gleason, CA; Devascar, S (5 October 2011). "Congenital malformations of the Central Nervous System". Avery's Diseases of the Newborn (9 ed.). Saunders. p. 857. ISBN 1437701345.
^ http://www.msnbc.msn.com/id/21134540/vp=40678268&#40678268&from=en-us_msnhp&snid=18424776
^ McNay DE, Turton JP, Kelberman D, et al. (2006). "HESX1 mutations are an uncommon cause of septo-optic dysplasia and hypopituitarism". J Clin Endocrinol Metab. 92 (2): 691–7. PMID 17148560. doi:10.1210/jc.2006-1609.
^ Dattani MT, Martinez-Barbera JP, Thomas PQ, et al. (1998). "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse". Nat. Genet. 19 (2): 125–33. PMID 9620767. doi:10.1038/477.
^ "OMIM". Genetics Home Reference - Septo-Optic Dysplasia. Retrieved 5 February 2015.
^ Jerome F. Strauss and Robert L. Barbieri (eds), "Yen and Jaffe's reproductive endocrinology; physiology, pathophysiology, and clinical management", 6th ed, 2009, p. 421.

UpToDate Contents

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1. 中枢性尿崩症の臨床症状および原因 clinical manifestations and causes of central diabetes insipidus
2. 視神経の先天性および後天性異常 congenital anomalies and acquired abnormalities of the optic nerve
3. 小児における中枢性副腎不全の原因および臨床症状 causes and clinical manifestations of central adrenal insufficiency in children
4. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
5. 低身長の小児および思春期患者に対する診断的アプローチ diagnostic approach to children and adolescents with short stature

English Journal

Septo-optic dysplasia: an autopsy study of a 23-week fetus.

Jethwani DP, Mahadevan A, Ramamurthy BS, Mangala R, Shankar SK.SourceDepartment of Neuropathology, National Institute of Mental Health and Neuroscience, Consultant Ultrasonologist and Radiologist, Srinivasa Ultrasound Scanning Center, and Obstetrician and Gynecologist, Sevakshetra Hospital, Bangalore, India.
Clinical neuropathology.Clin Neuropathol.2012 Jan-Feb;31(1):44-50.
Septo-optic dysplasia is a rare congenital anomaly with an incidence of 1 in 10,000 live births. Recognizing this anomaly early can help parents take an informed decision. There are very few reports of pathological descriptions of this anomaly. We present neuropathological findings at autopsy follow
PMID 22192704

Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study.

Howe DT, Rankin J, Draper ES.SourceWessex Fetal Medicine Unit, Princess Anne Hospital, Southampton, UK. dth@soton.ac.uk.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.Ultrasound Obstet Gynecol.2012 Jan;39(1):75-82. doi: 10.1002/uog.9069. Epub 2011 Dec 5.
OBJECTIVES: To establish the prevalence and antenatal diagnosis of schizencephaly in the UK.METHODS: Data on schizencephaly were extracted from six regional congenital anomaly registers.RESULTS: Thirty-eight cases of schizencephaly were identified in 2 567 165 livebirths and stillbirths, giving a to
PMID 21647999

Novel Proximal 14q Deletion: Clinical and Diffusion Tensor Imaging Tractography Findings in a Patient with Lissencephaly, Agenesis of the Corpus Callosum, and Septo-Optic Dysplasia.

Bravo EK, White ML, Olney AH, McAllister JL, Zhang YD.SourceDepartment of Radiology, Creighton University, School of Medicine, Omaha, Nebraska; Department of Radiology, Genetic Medicine Department, and Pediatric Neurology, University of Nebraska Medical Center, Omaha, Nebraska.
AJNR. American journal of neuroradiology.AJNR Am J Neuroradiol.2011 Dec 22. [Epub ahead of print]
SUMMARY:We report the unique CNS findings in a patient with a proximal chromosome 14q interstitial deletion. Conventional MR imaging allowed the clear delineation of agenesis of the corpus callosum, SOD, and diffuse lissencephaly. DTI tractography played a significant role in the evaluation of the p
PMID 22194387

Japanese Journal

症例急性副腎不全に対してhydrocortisoneの補充を開始し,その後GH補充療法を追加したsepto-optic-pituitary dysplasiaの1例

榊裕佳,安部健太郎,日高由美 [他]
内科 108(1), 180-184, 2011-07
NAID 40018897186

Septo-optic dysplasia 小児例に関する画像的検討

温井めぐみ,九鬼一郎,木村志保子,服部妙香,井上岳司,岡崎伸,川脇壽,富和清隆
脳と発達 43(1), 5-9, 2011-01-01
NAID 10027865593

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★リンクテーブル★

リンク元	「SOD」「眼中隔異形成」「中隔視神経異形成症」「SOD 症候群」
関連記事	「opt」「optic」「optics」

「SOD」

Septo-optic dysplasia
Classification and external resources
Specialty	medical genetics
ICD-10	Q04.4
ICD-9-CM	742.2
OMIM	182230
DiseasesDB	32732
MeSH	D025962
	[edit on Wikidata]