Request PDF on ResearchGate | On Nov 1, , S. Estefanía and others published Displasia septo-óptica. Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland. Displasia septo-óptica o síndrome DeMorsier: Presentación de 1 caso y revisión bibliográfica. Rev Cubana Pediatr [online]. , vol, n.4, pp.

Author: Shakak Brazahn
Country: United Arab Emirates
Language: English (Spanish)
Genre: Business
Published (Last): 7 November 2006
Pages: 480
PDF File Size: 17.6 Mb
ePub File Size: 9.34 Mb
ISBN: 498-3-87376-954-4
Downloads: 89437
Price: Free* [*Free Regsitration Required]
Uploader: Daishakar

Rua Casa do Ator, – cj. Median cranioencephalic dysraphias and olfactogenital dysplasia. Genetic disorderprotein biosynthesis: All 5 patients were early diagnosed with potica ONH, with severe visual loss and bilateral nystagmus.

Some additional modality dependent features may also be visible. Endocrinologic test results basal cortisol, displaia hormone, growth hormone, thyroid stimulating hormone, serum thyroxine, testosterone were normal.

There was a problem providing the content you requested

The clinical triad of septo-optic dysplasia SOD comprises the absence of the septum pellucidum, congenital optic nerve dysplasia, and multiple endocrine disorders.

An empty sella with or without an ectopic pituitary was seen in 4 cases. Our patient’s intelligence was normal. Case 5 presented cortisol and thyroid hormone deficiencies and is under investigation for deficit of GH. Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism.

Septo-optic dysplasia

Services on Demand Journal. Magnetic resonance imaging revealed absence of the septum pellucidum Figure 2hypoplasia of the optic nerves Figure 3 and chiasm.

Pituitary hypoplasia manifests itself in different degrees of hormone deficiency, from a single hormone deficit to panhypopituitarism 4,5,7,11,19,24, Currarino syndrome Diastomatomyelia Syringomyelia. Paulo de Tarso P. Etiology of the SOD Most SOD cases are sporadic and several etiologies have been postulated, like viral infections, gestational diabetes, environmental teratogens, vascular or degenerative injury and genetic mutations 10,12, Stevens and Dobyns reported a boy with optic nerve hypoplasia, pituitary dysfunction, and MRI findings consistent with septooptic dysplasia, who also had multiple limb defects suggestive of amniotic bands.


Congenital absence of septum pellucidum. From Wikipedia, the free encyclopedia. In a study group comprising 55 optic nerve hypoplasia patients, Birkebaek et al. Growth hormone deficiency with pituitary anomalies. The clinical association of SOD with pituitary hormone deficiency was established in 2. Optic nerve hypoplasia, encephalopathy, and neurodevelopmental handicap. The most commonly affected hypopituitary hormone is growth hormone. Harris and Haas noted that septooptic dysplasia is characterized by hypoplastic optic discs with characteristic double margin, an absent septum pellucidum, and growth hormone GH; deficiency.

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. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

Clinical Synopsis Toggle Dropdown. Evidence for possible Mendelian inheritance of septo-optic dysplasia. In addition, direct sequencing of HESX1 was performed in patients with familial hypopituitarism from 66 unrelated families and in 11 patients born to consanguineous parents. This fact occurred 4 years after the diagnosis of the visual disturbance, when the patient already presented important short stature secondary to GH deficiency.

It is important to note that patients with SOD need long-term neurological, ophthalmological and endocrinological investigation. Optic nerve hypoplasia ONH is generally the first manifestation of the syndrome Her mother had low body weight and suffered from urinary infection in the last trimester of pregnancy.


Case 6 Case 6. J Child Neurol ; Growth hormone deficiency with pituitary anomalies can also be caused by mutation in the HESX1 gene. Infobox medical condition new Articles needing additional references from August All articles needing additional references All articles with unsourced statements Articles with unsourced statements from February Articles to be expanded from March All articles to be expanded Articles with empty sections from March All articles with empty sections Articles using small message boxes.

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.

Anoftalmía bilateral por displasia septo-óptica: Síndrome de De Morsier

All children had corticotropin deficiency, all had thermoregulatory disturbances, and 4 children had diabetes insipidus. Congenital malformations and deformations of nervous system Q00—Q07— The authors report the case of an incomplete form of SOD in a 9-year-old boy with low vision and nystagmus present from birth.

Ophthalmologic examination disclosed pale, small-sized optic discs, encircled by a hypopigmented avascular scleral crescent, characterizing a double contour of the papilla double ring sign Figure 1.

The endocrine spectrum of septo-optic dysplasia.