Septo-optic dysplasia

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Classification according to ICD-10
Q04.8 Other specified congenital malformations of the brain
ICD-10 online (WHO version 2019)

The Septo-optic dysplasia , short- SOD , also de-Morsier syndrome named after the first person to describe 1956, the Swiss neurologist Georges de Morsier is a rare congenital disorder characterized by the combination of optic nerve underdevelopment ( hypoplasia ), abnormal hormonal activity of the pituitary gland ( pituitary ) as well as midline defects of the brain.

Epidemiology

The prevalence is given as 1: 10,000 live births.

Heredity is sporadic, but familial cases of different inheritance patterns have also been reported with mutations in the HESX1 gene at the 3p14.3 gene location.

clinic

The extent of the changes in septo-optic dysplasia can be very different, so the clinical picture is clearly heterogeneous. Only 30 percent of the patients show the complete combination of characteristics.

Most patients have a growth hormone deficiency with a corresponding short stature in childhood. The hypoplasia of the optic nerve is unilateral in a good half of the patients and leads to relevant visual disturbances in a quarter. The midline defects of the brain that are typical of the disease are the absence of the septum pellucidum and / or the lack of bars . Other malformations can also occur.

diagnosis

If hypoglycaemia , jaundice , micropenis and nystagmus are present in the newborn, this disease should be considered. The diagnosis is confirmed by an ophthalmological examination, hormone tests and imaging of the brain ( sonography , magnetic resonance imaging ) . Colpocephaly can also be present.

Differential diagnosis

A missing septum pellucidum is insufficient evidence of this disease, as the septum aplasia can also occur in isolation.

To be delimited is u. a. the Kraniotelenzephale dysplasia and syndromes associated with optic nerve hypoplasia-like polymicrogyria with optic nerve hypoplasia .

therapy

The treatment focuses on the substitution of the hormone deficiency and the ophthalmological control.

literature

  • Georges de Morsier. "Études sur les dysraphies crânioencéphaliques. III. Agénésie du septum pelludicum avec malformation du tractus optique. La dysplasia septo-optique." In: Swiss Archive for Neurology and Psychiatry. Archives suisses de neurologie et de psychiatrie. Archivio svizzero di neurologia e psichiatria. Volume 77, Numbers 1-2, 1956, pp. 267-292, PMID 13360148 .

Individual evidence

  1. ↑ a b c Septo-optic dysplasia. In: Orphanet (Rare Disease Database).
  2. ↑ Septooptic dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ KH Deeg, I. Gassner: Sonographic diagnosis of brain malformations. Part 2: Holoprosencephaly - hydranencephaly - agenesis of the septum pellucidum - schizencephaly - septo-optical dysplasia. In: Ultrasound in Medicine (Stuttgart, Germany: 1980). Volume 31, Number 6, December 2010, pp. 548-560, ISSN  1438-8782 . doi: 10.1055 / s-0029-1245651 . PMID 21117007 . (Review).
  4. ↑ U. Schmidt-Riese, M. Zieger: Sonographic diagnosis of the isolated aplasia of the septum pellucidum. In: Ultrasound in Medicine (Stuttgart, Germany: 1980). Volume 15, Number 6, December 1994, pp. 286-292, ISSN  0172-4614 . doi: 10.1055 / s-2007-1004031 . PMID 7846505 . (Review).

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