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 authors concluded that septum pellucidum and hypothalamic-pituitary axis appearances on MRI can be used to predict the sepyo spectrum of displaska. Support Radiopaedia and see fewer ads. Genetic disorderprotein biosynthesis: In accordance to the literature 4,5,7,11,19,24,25,30it is observed a great phenotypic variety of the endocrine manifestations on the SOD cases, varying from normal pituitary function – one dislasia – to severe hypopituitarism – in three cases.
Male, born at 40 weeks of gestation, with a weight of 3. The patients with hypoglycemia were succefully treated with glucocorticoid replacement. Autosomal recessive; Autosomal dominant. In one of the cases, the stature deficit can’t be corrected with hormone substitution because the patient is already in the final phase of growth.
Case 9 Case 9.
The retinal vessels are normal 6. Case 3 Case 3. Pituitary hormone deficiency, combined, 3. Optic nerve hypoplasia and potica hormone deficiency: Endocrine disorders in septo-optic dysplasia De Morsier syndrome – evaluation and follow up of 18 patients.
In a Japanese patient with sporadic pituitary and optic nerve hypoplasia, Tajima et al. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10, live births summary by Webb and Dattani, Three patients also presented arachnoid cysts case 1, 2 and 4.
Unable to process the form. Septo-optic dysplasia associated with see-saw nystagmus. Services on Demand Journal.
Rare familial recurrence has been reported, suggesting at least one genetic form HESX1. This section needs additional citations for verification. Harris and Haas noted that septooptic dysplasia is characterized by hypoplastic optic discs with characteristic double margin, an absent septum pellucidum, and growth hormone GH; deficiency.
Schweiz Arch Neurol Psychiatr. Septo-optic dysplasia is a highly variable disorder.
OMIM Entry – # – SEPTOOPTIC DYSPLASIA
Septo-optic dysplasia with growth hormone deficiency de Morsier syndrome. Thank you for updating your details. Dev Med Child Neurol ; In three cases 3, 4 and 5the MRI detected the anomaly on the optic tract, with diffused hypoplasia of the chiasm and optic nerve.
Magnetic resonance imaging revealed absence of the septum pellucidum Figure 2 lptica, hypoplasia of the optic nerves Figure 3 and chiasm. If severe, it can lead to diagnosis in the first days of life by causing hypoglycemiajaundiceand micropenis if a boy. There is no single cause of septo-optic dysplasia. Feingold syndrome Saethre—Chotzen syndrome. Ophthalmic paediatrics and genetics.
The case with isolated GH deficiency evolved with cortisol insufficiency after 1 year of monitoring. Retrieved from ” https: The bilateral ophthalmoscopic examination revealed small papillae with double contour images. Systemic and ocular findings in patients with optic nerve hypoplasia.
Webb and Dattani reviewed septooptic dysplasia, noting that there is a wide variation in the severity of the clinical features found and in their association with other diagnoses, which follows no clear pattern.
We noticed a strong association between the diwplasia axis abnormalities on the MRI and endocrine disfunction, as the patient with an empty sella was the most compromised, while the patient with a normal MRI had a preserved pituitary function. Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism. In a patient with combined pituitary hormone deficiency, but without optic nerve hypoplasia, Carvalho et al.
Kelberman D, Dattani MT. Septo-optic dysplasia has been described as a malformation of the central nervous system characterized by the absence of the septum pellucidum, and hypoplasia of the chiasm and optic nerves.
All imaging modalities that can displaxia the septum pellucidum ultrasound, CT and MRI will detect its absence in septo-optic dysplasia. Hydrocephalus or a seizure disorder are more frequently seen in patients with developmental delay 24, Hypopituitarism in this syndrome is most often manifested by growth hormone deficiency.
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.
Retrieved 5 February Please consider making a donation now and again in the future. Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.
Various displsaia of early intervention or equivalent programs can help a child reach full developmental potential. Morishima A, Aranoff GS. Services on Demand Journal.
According to Rush and Bajandasthe term ‘septooptic dysplasia’ was coined in by de Morsier, who pointed out the association of optic nerve hypoplasia and absence of the septum pellucidum. It is important to note that patients with SOD need long-term neurological, ophthalmological and endocrinological investigation.
This investigation still has not been done.