De Morsier syndrome associated with periventricular nodular heterotopia: case reporte. Síndrome de De Morsier associada a heterotopia nodular. DE MORSIER SYNDROME. Other entities represented in this entry: PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED. Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a condition characterised by optic nerve hypoplasia and absence of septum pellucidum.

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Additionally, midline central nervous system abnormalities of the corpus callosum and cerebellum were demonstrated. Am J Ophthalmol ; Hum Mol Genet ; Unfortunately, it is not free to produce. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

Septo-optic dysplasia de Morsier syndrome. None of them displayed optic nerve or septum pellucidum abnormality. Treatment with levothyroxine was instituted. All children had corticotropin deficiency, all had thermoregulatory disturbances, and 4 children had diabetes insipidus.

Log in Sign up. Evidence for possible Mendelian inheritance of septo-optic dysplasia. Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes, symptomatic hypoglycemia at 18 hours. It is best thought of as being part of the holoprosencephaly spectrum see classification system for midline malformations.


All patients had short stature. In a patient with combined pituitary hormone deficiency, but without optic nerve hypoplasia, Carvalho et al.

Author information Copyright and License information Disclaimer. The procedure lasted about 80 min and the patient was transported to the postanesthetic care unit, conscious and in spontaneous ventilation. American Journal of Diseases of Children.

Septo-optic dysplasia | Radiology Reference Article |

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PaediatricsCentral Nervous System. We need long-term secure funding sindroem provide you the information that you need aindrome your fingertips. Additional information Further information on this disease Classification s 5 Gene s 7 Clinical siindrome and symptoms Other website s Unsourced material may be challenged and removed. Two patients were screened for HESX1 mutations and in 1 of them a heterozygous mutation was found.

Septo-optic dysplasia is a developmental disorder resulting from a defect dee normal embryological development. A double second-cousin had nesidioblastosisa probably unrelated disorder see also craniotelencephalic dysplasia, It is rare for siblings to present with identical features of the septo-optic dysplasia spectrum. There is no single cause of septo-optic dysplasia. National Center for Biotechnology InformationU. Support Center Support Center.

Optic nerve hypoplasia with hypopituitarism: Wales and Quarrell described a sister and brother from a consanguineous mating in whom septooptic dysplasia was present, suggesting mendelian inheritance. Anesthetic induction with sevoflurane plus air and placement of an intravenous IV access were performed. In this study, no mutations were found on patients with sporadic SOD.

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All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Sjndrome deficit and neurological manifestations developmental delay, seizures and cerebral palsy may be present.

Garcia-Filion P, Borchert M. Case 6 Case 6.

Septo-optic dysplasia

However, inMitchell et al. Growth hormone deficiency with pituitary anomalies.

Septo-optic dysplasia De Morsier syndrome is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction.

Check for errors and try again. This page was last edited on 8 Novemberat The patient presented with 7 episodes of epileptic seizures at the same day, described by the mother as a scream followed by hyperextension of all 4 limbs and cervical hyperextension, evolving to a generalized clonic phase.

Septo-optic dysplasia/de Morsier’s syndrome

Pituitary hormone deficiency, combined, 3. Many patients present with additional developmental defects outside the septo-optic dysplasia dr.

Anterior pituitary hormone replacement therapy was begun at 7 days and she remained well subsequently.