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.
|Published (Last):||17 February 2012|
|PDF File Size:||15.18 Mb|
|ePub File Size:||13.66 Mb|
|Price:||Free* [*Free Regsitration Required]|
Case 4 has an empty sella and the other three cases 1, 3 and 5 present hypoplastic anterior pituitary. Review of 51 patients. 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. Dev Med Child Neurol. Holt—Oram syndrome Li—Fraumeni syndrome Ulnar—mammary syndrome.
All 3 mutations had been inherited from an unaffected parent, and in 1 pedigree, an unaffected sib also carried the mutation, indicating incomplete penetrance; the mutations were not found in control chromosomes.
Maternal factors in septo-optic dysplasia. Pituitary hormone deficiency Pituitary hypoplasia manifests itself in different degrees of hormone deficiency, from a single hormone deficit to panhypopituitarism 4,5,7,11,19,24, The degree of visual impairment is variable, and ranges from normal vision to complete blindness.
Our case reinforces the notion that SOD may be a relatively benign entity and remain unsuspected. Pituitary hormone deficiency, combined, 5. The anomalies vary from developmental delay to focal deficits, like epilepsy and hemiparesis 7,15, 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.
Generalized hypotonia of axial predominance with osteotendinous reflexes, horizontal nystagmus, convergent strabismus, absence of visuopalpebral reflex and, bilaterally, in the fundus of the eye small papillae with double contour image. From Wikipedia, the free encyclopedia.
The bilateral ophthalmoscopic examination revealed small papillae with double contour images. August Learn how and when to remove this opticw message. Its pathogenesis is still unknown but it has been associated with low maternal age and nulliparity Intracranial arachnoid and epidermoid cysts also seem to be associated 6 with, as arachnoid cysts are present in How to cite this article.
The average of Z score for stature at the time of admission in the endocrinology department was of METHOD We describe the clinical and radiological findings of five patients with the diagnosis of septo-optic dysplasia, sent to an outpatient clinic of pediatric endocrinology due to short stature. These children had multidisciplinary follow up, but the etiology of the hypoglycemia was elucidated and treated very late in life.
Although there are many measures to compensate for visual impairment, there are few treatments available to induce normal optic nerve function. All patients gave an informed consent for this publication. J Pediatr Endocrinol Metab ; You can help by adding to it. MRI exam showed anterior pituitary aplasia in a flat sella turcica and a normally located posterior pituitary without optic nerve hypoplasia in both patients.
Two patients presented significant hypoglycemic episodes since the neonatal period, both complicated by seizures, one being victim of cardiorespiratory arrest in the postnatal period.
None of the patients had complications during the prenatal period and only one had fetal distress, solved by the interruption of the pregnancy by cesarean surgery.
Septo-optic dysplasia – Wikipedia
The clinical association of SOD with pituitary hormone deficiency was established in 2. Etiology of the SOD Most SOD cases are sporadic and several etiologies have been postulated, like viral infections, gestational diabetes, environmental teratogens, vascular or degenerative injury and genetic mutations 10,12, Stevens and Dobyns reported a boy with optic nerve hypoplasia, pituitary dysfunction, and MRI findings consistent with septooptic dysplasia, who also had multiple limb defects suggestive of amniotic bands.
The case with isolated GH deficiency evolved with cortisol insufficiency after 1 year of monitoring.
It could be a causative factor or only secondary to a common etiopathogenic process Her mother had low body weight and suffered from urinary infection in the last trimester of pregnancy. Repeat CT scanning showed absence of the septum pellucidum and corpus callosum. All patients were evaluated by a pediatric ophthalmologist, through direct ophthalmoscopy.
There was a problem providing the content you requested
Barakat syndrome Tricho—rhino—phalangeal syndrome. Although sepro tests were not made for the confirmation of the GH deficiency, it probably exists, being suggested by the combination of abnormalities in the hypothalamic-pituitary axis, severe short stature and insignificant plasmatic IGF-1 levels.
Studies in mice showed that the disruption of the homeobox gene Hesx1 produces a phenotype similar to SOD 4. As the situation progressed, associated growth deficit, nystagmus, visual loss and developmental delay were observed and the diagnosis of the hypopituitarism occurred really late at 4.
Arch Dis Child ; PaediatricsCentral Nervous System.