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 disorder is equally prevalent in males and females and is more common in infants born to younger dixplasia, with a reported incidence of 1 in 10, live births summary by Webb and Dattani, Optic nerve hypoplasia with hypopituitarism: Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
Strauss and Robert L. Head circumference and weight were within normal limits. Harris and Haas stated that there was no evidence for a mendelian basis for septooptic dysplasia syndrome. In a Japanese patient with sporadic pituitary and optic nerve hypoplasia, Tajima et al.
In addition, direct sequencing of HESX1 was performed in patients with familial hypopituitarism from 66 unrelated families and in 11 patients born to consanguineous parents. Our cases reveal that there has been a delay between the diagnosis of ONH dipslasia the definition as SOD of 2 to 12 years average of 6 years.
J Child Neurol ; Review of 51 patients. CC ]. 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. Epidemiology Clinical presentation Pathology Radiographic features Treatment and prognosis History and etymology Differential diagnosis Related articles References Images: 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.
Growth hormone deficiency with pituitary anomalies. Case 1 Case 1. Pituitary hormone deficiency, combined, 6. All patients with hormonal deficiency have diaplasia in the hypothalamic-pituitary axis on neuroimaging. The association of low maternal age with SOD is not consensus 3,15, Clin Endocrinol Oxf ; In three cases 3, 4 and 5the MRI detected the anomaly on the optic tract, with diffused hypoplasia of the chiasm and optic nerve.
Septo-optic dysplasia: case report
A diagnosis of septo-optic dysplasia was established. You can help by adding to it.
The SOD phenotype is highly heterogeneous, being defined by the association of two out of three features: Interestingly, as reported in other reportsour patient was associated with low maternal age and nulliparity. Studies in mice showed that the disruption of the homeobox gene Hesx1 produces a phenotype similar to SOD 4. Patients were divided into 4 groups based on septum pellucidum and hypothalamic-pituitary axis appearance: Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.
Other factor that may have contributed to the neurological condition of these patients are the cerebral malformations, because both present schizencephaly. The images were evaluated by the same method by one investigator.
Clinical spectrum of congenital optic nerve hypoplasia. Case 5 Case 5. 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. Neuropathology of “septo-optic dysplasia” de Morsier syndrome with immunohistochemical studies of the hypothalamus and pituitary gland.
In 2 sibs with septooptic dysplasia reported by Wales and QuarrellDattani et al.
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Wales and Quarrell described a sister and brother from a consanguineous mating in whom septooptic dysplasia was present, suggesting mendelian inheritance. It could opitca a causative factor or only secondary to a common etiopathogenic process Our case reinforces the notion that SOD may be a relatively benign entity and remain unsuspected.
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One of the patients has isolated ADH deficiency, a rare fact according to the literature 5,26but with the possibility of developing other deficiencies, since the patient is still young 8 yearsneeding close follow up. Hypopituitarism and neurodevelopmental displawia in relation to central nervous system structural defects in children with optic nerve hypoplasia.
Hypopituitarism and septooptic ‘dysplasia’ in first cousins. All of the patients with abnormal hypothalamic-pituitary axis presented neuroendocrine dysfunctions but we didn’t observe any relation between the hormonal deficit and the anomalies found on displaaia neuroimaging, as the image of the sella of the patient with diabetes insipidus is identical to the findings of the patients with combined pituitary hormone deficiency.
Median cranioencephalic dysraphias and olfactogenital dysplasia. Trans Am Opthalmol Soc ; Heterozygous HESX1 mutations associated speto isolated congenital pituitary hypoplasia and septo-optic dysplasia.