DISPLASIA SEPTO OPTICA PDF

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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.

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The association of low maternal age with SOD is not consensus 3,15, Congenital malformations and deformations of nervous system Q00—Q07— Case 1 has isolated diabetes insipidus and case 2 has not presented any deficiency until now HR Atrichia with papular lesions. Maternal factors in septo-optic dysplasia.

Barbieri eds”Yen and Jaffe’s reproductive endocrinology; physiology, pathophysiology, and clinical management”, 6th ed,p. Septo-optic dysplasia with digital anomalies–a recurrent pattern syndrome. As the situation progressed, associated growth deficit, nystagmus, visual loss and developmental delay were observed and the diagnosis of the hypopituitarism occurred really late at 4.

Case 1 Case 1. Three patients also presented arachnoid cysts case 1, 2 and 4. Seto children had corticotropin deficiency, all had thermoregulatory disturbances, and 4 children had diabetes insipidus.

Agenesis of the septum lucidum with malformation of the optic tract]. The clinical manifestations of this patient matched with the classic triad of DeMorsier’s septl, hypoplasia of the optic nerve, agenesia of the septum pellucidum and hormone deficiencies, in this case of the growth hormone.

J Clin Endocrinol Metab.

Septo-optic dysplasia

Interestingly, as reported in other reportsour patient was associated with low maternal age and nulliparity. In utero exposure to cocaine and other street drugs can lead to septo-optic dysplasia. A diagnosis of septo-optic dysplasia was established.

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All the setpo were forwarded to the endocrinology clinic due to short stature at ages ranging from 3. Sequencing of HESX1 exons and their flanking intronic regions revealed homozygosity for a frameshift mutation METHOD We describe the clinical and radiological findings of five patients with the diagnosis of septo-optic dysplasia, sent to an outpatient clinic of pediatric endocrinology due to short stature.

Septo-optic dysplasia associated with cerebral cortical dysplasia cortico-septo-optic dysplasia.

Displasia septo-óptica o síndrome DeMorsier: Presentación de 1 caso y revisión bibliográfica

Anterior pituitary hormone replacement therapy was begun at 7 days and she remained well subsequently. The deficiencies also can evolve gradually over time 7,18, Endocrinologic test results basal cortisol, adrenocorticotropic hormone, growth hormone, thyroid stimulating hormone, serum thyroxine, testosterone were normal.

Sudden death in septo-optic dysplasia: All cases were born full term and two were born small for the gestational age SGAboth male. This syndrome was described by De Morsier in who found in nine of 36 patients with agenetic septum pellucidum an association with optic nerve hypoplasia 1.

The images were evaluated by the same method by one investigator. It is good to remember that hypothyroidism not treated in the first 3 years of life displazia adverse effects in the development of the brain, maybe contributing to the developmental delay observed in these cases. One of the patients presented cardiorespiratory arrest secondary to opgica hypoglycemia case 5.

Maternal factors in septo-optic dysplasia. Genetic analysis of the HESX1 gene in 18 patients with sporadic septooptic dysplasia revealed no abnormalities, suggesting that mutations in the HESX1 gene are not a frequent occurrence in sporadic disease.

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Thank you for updating your details. Bull Johns Hopkins Hosp ; Services on Demand Journal. J Pediatr Ophthalmol Strabismus ; 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. The average of Z score for stature at the time of admission in the endocrinology department was of We observed that 4 of the 5 cases have endocrine disfunction and this is probably a selection bias, since the patients were referred to our outpatient clinic due to short stature of possible endocrine causes.

The posterior fossa changes suggested a variant of the Dandy-Walker syndrome We describe the clinical and radiological findings of five patients with the diagnosis of septo-optic dysplasia, sent to an outpatient clinic of pediatric endocrinology due to short stature.

By using this site, you agree to the Terms of Use and Privacy Policy. Intracranial arachnoid and epidermoid cysts also seem to be displxsia 6 with, xepto arachnoid cysts are present in Hum Mol Genet ; Syndrome of septo-optic pituitary dysplasia: Case 4 Case 4.