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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Magnetic resonance imaging revealed absence of the septum pellucidum Figure 2hypoplasia of the optic nerves Figure 3 and chiasm.
kptica At birth, the male was found to have micropenis and cryptorchidism, xisplasia hypoglycemia was detected at 4 hours of age.
J Child Neurol ; Data concerning previous and presenting symptoms, perinatal history, development and clinical examination were collected from the medical records. Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.
Two other cases, even with the important visual deficit, did not have specialized follow up, which could have optimized its development potential.
Septo-optic dysplasia – Case report. The septo-optic dysplasia or DeMorsier’s syndrome is a rare congenital disease consisting in hypoplasia of one or more frequently of both optic nerves, absence of septum pellucidum and hormone deficiencies. The degree of pituitary deficiency is also variable, and ranges from normal function, to deficiency of both anterior and posterior hormones. Case 4 Case 4.
Maternal factors in septo-optic dysplasia. Hypopituitarism, even with signs initiated in the neonatal period, usually is diagnosed much later, which brings great risk of death and brain injury Genetic disorderprotein biosynthesis: A number sign is used with this entry because of evidence that septooptic dysplasia can speto caused by mutation in the homeobox gene HESX1 on chromosome 3p Harris and Didplasia stated that there was no evidence for a mendelian basis for septooptic dysplasia syndrome.
Case 9 Case 9.
Septo-optic dysplasia | Radiology Reference Article |
Barbieri eds”Yen and Jaffe’s reproductive endocrinology; physiology, pathophysiology, and clinical management”, 6th ed,p. You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Retrieved 5 February A familiar case study was pioneer and identified a missense mutation in the gene HESX1 in a highly consanguineous family with SOD, allowing the confirmation of the hypothesis 4.
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and sepro nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
Septo-optic dysplasia: case report
The mother was years-old at delivery and denied exposure to alcohol or drugs. 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.
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. Septo-optic dysplasia SOD is a rare congenital condition, initially described by Reeves in 1. As first symptom of SOD, the two remaining patients cases 4 and 5 had a severe episode of neonatal hypoglycemia in the first 24 hours of life, evolving with seizures and the need of intensive care.
Mutation in the HESX1 gene can also cause combined pituitary hormone deficiency-5 CPHD5without associated optic nerve hypoplasia or defects of midline brain structures. The literature highlights that neonatal hypoglycemia is an important alert sign for the suspicion of hypopituitarism, which could be treated early in life to reduce the neurocognitive morbidity.
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. Septo-optic dysplasia and amniotic bands: Case 1 has isolated diabetes insipidus and case 2 has not presented any deficiency until now Midline abnormalities in the central nervous system.
Our case reinforces the notion that SOD may be a relatively benign entity and remain unsuspected. Neural tube defect Spina bifida Rachischisis. Although none of our patients have a family history of SOD or hypopituitarism, this does not exclude the possibility of a genetic cause for the syndrome.
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It typically resolves over several weeks once hormone replacement is begun. The clinical manifestations of this patient matched with the classic triad of DeMorsier’s syndrome, hypoplasia of the optic nerve, agenesia of the septum pellucidum and hormone deficiencies, in this case of the growth hormone. 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.