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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Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. Physical examination revealed a cm-tall boy with normal findings at a general medical examination. Of the 4 patients diagnosed by the endocrinologist, 2 also had a great delay in diagnosis due to a lack of knowledge about the syndrome by the specialists.

The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. In addition to enlarged lateral ventricles with an absent septum pellucidum, CT may demonstrate small optic apparatus best seen with volumetric scanning and coronal optoca and associated small bony optic foramina.

The cause of the jaundice is unknown, and an unusual aspect of it compared to most neonatal jaundice is that it can be largely a conjugated direct hyperbilirubinemia suggestive of obstructive liver disease. After hormonal assessment, GH deficiency was diagnosed in 2 cases, one being an isolated deficiency case 3 and the other a case of panhypopituitarism with associated cortisol and thyroid hormone deficiencies case 4.

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.

We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. 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.


Please consider making a donation now and again in the future. Septo-optic dysplasia SOD is a rare congenital condition, initially described by Reeves in 1.

Br J Ophthalmol ; Ectopic posterior pituitary predicts the existence of pituitary hormone deficiency, while hemispheric migration anomalies are predictors of neurodevelopmental deficits 8. Rare familial recurrence has been reported, suggesting at least one genetic form HESX1. The clinical and radiological features are shown on the Tables 1 and 2respectively.

Expert curators review the literature and organize it to facilitate your work. The authors reviewed 5 similar cases from the literature and concluded that there is evidence for a vascular pathogenesis of septooptic dysplasia in some patients.

Precocious puberty was most common in group 2. Intracranial arachnoid and epidermoid cysts also seem to be associated 6 with, as arachnoid cysts displasua present in In 2 sibs with septooptic dysplasia reported by Wales and QuarrellDattani et al. Studies in mice showed that the disruption of the homeobox gene Hesx1 produces a phenotype similar to SOD 4. A diagnosis of septo-optic dysplasia was established.

Septo-optic dysplasia | Radiology Reference Article |

Data concerning previous and presenting symptoms, perinatal history, development and clinical examination were collected from the medical records. Costin G, Murphree AL.

A fundoscopic examination reveals a small optic disc encircled by a halo of hypopigmented tissue caused by hypoplasia of the retinal epithelial pigment. Endocrine disorders in septo-optic dysplasia De Morsier syndrome –evaluation and follow up of 18 patients. This section needs additional citations for verification. A thin stalk was spotted in cases 3 and 5, but could not be identified in case 1 and 4.

Astigmatism is also common 6.

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The retinal vessels and macula were normal. Repeat CT scanning showed absence of the septum pellucidum and corpus callosum. Ophthalmologists and neurologists should be aware to the identification of any of the features of the syndrome, forwarding these patients early to the pediatric endocrinologist, since the pituitary deficiencies may be present since the dosplasia period or can appear throughout life, originating permanent sequelae.


All of the pituitary hormones can be replaced, and this is the treatment for deficiencies. When nystagmus develops, it typically appears by 1—8 months dizplasia age, and usually indicates that there will be a significant degree of visual impairment, but the severity is difficult to predict in infancy. Check for errors and try again.

Pituitary hormone deficiency, combined, 4. Barbieri eds”Yen and Jaffe’s reproductive endocrinology; physiology, pathophysiology, and clinical management”, 6th ed,p.

The anomalies vary from developmental delay to focal deficits, like epilepsy and hemiparesis 7,15, It is good to remember that hypothyroidism not treated in the first 3 years of life has adverse effects displasoa the development of the brain, maybe contributing to the developmental delay observed in these cases. Septo-optic dysplasia is a developmental disorder resulting from a defect of normal embryological development.

Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism. J Child Neurol ; Although ssepto, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment.

Unable to process the form. Pituitary hormone deficiency, combined, 5. Septo-optic dysplasia has been linked to young maternal age. Ophthalmic displasla and genetics.