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.

Author: Dilabar Meztilar
Country: Suriname
Language: English (Spanish)
Genre: Technology
Published (Last): 23 December 2011
Pages: 132
PDF File Size: 17.78 Mb
ePub File Size: 6.18 Mb
ISBN: 643-6-30550-760-6
Downloads: 44583
Price: Free* [*Free Regsitration Required]
Uploader: Mikajas

Cases and figures Imaging differential diagnosis. Thank you for updating your details. InBrenner et al. It typically resolves over several weeks once hormone replacement is begun. We are determined to simdrome this website freely accessible. Unsourced material may be challenged and removed. Pituitary hormone deficiency, combined, 1.

In particular digital defects are common. 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, birth weight g, symptomatic hypoglycemia at 18 hours.

Septo-optic dysplasia – Wikipedia

American Journal of Diseases of Children. It is rare for siblings to present with identical features of the septo-optic dysplasia spectrum.

This association is used to define two forms of the condition 1, Morrsier all other comments, please send your remarks via contact us.

All of the pituitary hormones can be replaced, and this is the treatment for deficiencies.

OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in sindroje and medicine. According to Rush and Bajandasthe term ‘septooptic dysplasia’ was coined in by de Morsier, who pointed out the association of optic nerve hypoplasia and absence of the septum pellucidum.


morwier In all cases an asymptomatic parent was found to harbor the mutation, along with an asymptomatic sibling of one affected individual. Case 5 Case 5.

National Center for Biotechnology InformationU. Etiology The majority of SOD cases are sporadic but familial cases have been described. Mutation in the HESX1 gene can also cause combined pituitary hormone deficiency-5 CPHD5without associated optic nerve hypoplasia or defects of midline brain structures.

Septo-optic dysplasia

Genetic testing may also be pursued. The association between SOD and hyperprolactinemia was described by Izenberg et al. Written informed consent was obtained from the parents. There were no other congenital abnormalities.

Septo-optic dysplasia/de Morsier’s syndrome

To the best of our knowledge, there were no reported cases of successful general anesthesia in patients with SOD, so we decided to report one. Rare familial recurrence has been reported, suggesting at least one genetic form HESX1.

Early diagnosis is associated with a better outcome as it allows timely management of hormone insufficiencies. Septo-optic dysplasia in two siblings. Am J Neuroradiol ; The choice of this candidate gene was based on the finding that mice with a null Hesx1 gene exhibited malformations of optic nerves and midline structures that were analog to SOD in humans There is no recognised gender predilection.


You can also scroll through stacks with your mouse wheel or the keyboard arrow keys.

Septo-optic dysplasia/de Morsier’s syndrome

Growth hormone deficiency with pituitary anomalies. The female was born with dislocation of the hip and talipes equinovarus.

Autoimmune polyendocrine syndrome type 1. Seizures, developmental delay, and cerebral palsy are the most frequent neurologic associations. There have been no reports of the association between SOD and primary hypothyroidism and hyperprolactinemia until Additional information Further information on this disease Classification s 5 Gene s 7 Clinical signs and symptoms Other website s Case 9 Case 9.

Septo-optic dysplasia is a highly variable disorder. The degree of pituitary deficiency is also variable, and ranges from normal function, to deficiency of both anterior and posterior hormones. Nonfamilial patients with either septooptic dysplasia patients or isolated pituitary dysfunction, optic nerve hypoplasia, or midline neurologic abnormalities patients originally screened by SSCP were rescreened by heteroduplex detection for mutations in the coding and regulatory regions of HESX1.

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. Anterior pituitary hormone replacement therapy was begun at 7 days and she remained well subsequently. Septo-optic dysplasia De Morsier syndrome is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction.

Family members were scanned for HESX1 mutations.