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.

Diabetes insipidus can evolve with hypocortisolism and thermoregulation disturbance, resulting in unexpected deaths It typically resolves over several weeks once hormone replacement is begun. Barbieri eds”Yen and Jaffe’s reproductive endocrinology; physiology, pathophysiology, and clinical management”, 6th ed,p. otpica

Septo-optic dysplasia

Hypothalamic-pituitary function in children with optic nerve hypoplasia. Thank you for updating your details.

Agenesis of the septum lucidum with malformation of the optic tract]. Endocrine disorders in septo-optic dysplasia De Morsier syndrome - evaluation and follow up of 18 patients. Am J Dis Child ; The most commonly affected hypopituitary hormone is growth hormone. It is good to remember that hypothyroidism not treated in the first 3 years of life has adverse effects in the development of the brain, maybe contributing to the developmental delay observed in these cases.

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

The magnetic resonance imaging Displlasia findings are heterogeneous including morphological anomalies of the cortex and malrotation of the hippocampus The electroencephalogram ECG is normal in half of the cases 19, Optic nerve hypoplasia with intracranial arachnoid cyst. Septo-optic dysplasia SODalso referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present.

Gonadotrophic function is generally preserved 26 and diabetes insipidus is found more rarely 5, The retinal vessels are normal 6.

Clin Endocrinol Oxf ; Other important characteristic to be remembered on the follow-up of these patients is the evolution of the endocrine deficiencies through time, as occurred with two patients, which demands selto vigilance and periodic reevaluation of the endocrine function 7,18, HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

Endocrine status in patients with optic nerve hypoplasia: 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. Studies in mice showed that the disruption of the homeobox gene Hesx1 produces a phenotype similar to SOD 4.

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A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. One of the patients presented cardiorespiratory arrest secondary to the hypoglycemia case 5. Case 8 Case 8.

Sequencing of HESX1 exons and their flanking intronic regions revealed homozygosity for opfica frameshift mutation Midline abnormalities include a great phenotype spectrum 4being agenesis of corpus callosum, absence of the septum pellucidum, cerebellar hypoplasia, aplasia of the fornix and schizencephaly the most common findings in the syndrome 6,8. The syndrome of hypopituitary dwarfism, hypoplasia of optic nerves and malformation of prosencephalon: Support Radiopaedia and see fewer ads.

Genetic testing may also be pursued. Our cohort is of 5 patients referred to the Pediatric Endocrinology Department, being two from Neurology and dissplasia from Ophthalmology.

Agenesie du septum lucidum avec malformation du tractus optique: Physical examination revealed a cm-tall boy with normal findings at a general medical examination. The posterior fossa changes suggested a variant of the Dandy-Walker syndrome J Child Neurol ; Two other cases, even with the important visual displsia, did not have specialized follow up, which could have optimized its development potential.

Hum Mol Genet ; The clinical association of SOD with pituitary hormone deficiency was established in 2.