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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Septo-optic dysplasia – Wikipedia
Hypoglycemia developed at 7 hours, at which time blood tests revealed undetectable levels of GH, adrenocorticotropic hormone ACTHluteinizing hormone LH;and follicle-stimulating hormone FSH; These children had multidisciplinary follow up, but the etiology of the hypoglycemia was elucidated and treated very late in life. The infant had an uncomplicated hospital course and was discharged after two days.
We need long-term secure funding to provide you the information that you need at your fingertips. All patients had bilateral ONH early diagnosed by a specialist, but only one was forwarded by the ophthalmologist to the endocrinologist. A diagnosis of septo-optic dysplasia should be suspected in patients who have a visual deficiency and a congenital nystagmus as well as a fundoscopic examination that reveals a double image of the papilla, an imaging examination showing agenesis of the septum pellucidum, and hypophyseal or hypothalamic hormonal deficiencies.
He was the first child of o;tica parents. Data concerning previous and presenting symptoms, perinatal history, development and clinical examination were collected from the medical records.
Agenesie du septum displasi avec malformation du tractus optique: Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. Case 1 Case 1. Support Radiopaedia and see fewer ads.
All cases were born full term and two were born small for the gestational age SGAboth male.
Case 5 Case 5. All patients had short stature. Two patients presented significant hypoglycemic episodes since the neonatal period, both complicated by seizures, one being victim of cardiorespiratory arrest in the postnatal period. Please consider making a donation now and again in the future. The authors report the case of an incomplete form of SOD in a 9-year-old boy with low vision and nystagmus present from birth.
Two patients forwarded by Neurology already had two non-endocrine criteria of SOD, however they only had their diagnosis confirmed years after the beginning of the neurological monitoring; one of ophica by the endocrinologist and other by the geneticist.
In utero exposure to cocaine and other street drugs can lead to septo-optic dysplasia. This association is used to define two forms of the condition 1, Brain imaging of the affected sibs by Brickman et al.
A thin stalk was spotted in cases 3 and 5, but could not be identified in case 1 and 4. 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.
Optic nerve hypoplasia is mandatory for the diagnosis and results in a variable degree of decreased vision. Optic nerve hypoplasia with intracranial arachnoid cyst. Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia.
Neural tube defect Spina bifida Rachischisis. Pituitary disolasia manifests itself in different degrees of hormone deficiency, from a single hormone deficit to panhypopituitarism 4,5,7,11,19,24, Studies in mice showed that the disruption of the homeobox gene Hesx1 produces a phenotype similar to SOD 4.
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One of the patients presented cardiorespiratory arrest secondary to the hypoglycemia case 5. Epidemiology Clinical presentation Pathology Radiographic setpo Treatment and prognosis History and etymology Differential diagnosis Related articles References Images: Clinical spectrum of congenital optic nerve hypoplasia.
Seizures, developmental delay, and cerebral palsy are the most frequent neurologic associations. Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum Dattani et al. Our patient’s intelligence was normal. Interestingly, as reported in other reportsour patient was associated with low maternal age and nulliparity.
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. The diagnosis dusplasia this rare congenital anomaly is made when 2 or more features of the classic triad are present.
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OMIM Entry – # – SEPTOOPTIC DYSPLASIA
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. Strauss and Robert L. Height, weight and the pubertal status were monitored. Endocrine function was assessed by a pediatric endocrinologist periodically and all of the biological evaluations were performed in the same laboratory.
In particular digital defects are common. Am J Dis Child diwplasia Magnetic resonance imaging revealed absence of the septum pellucidum Ddisplasia 2hypoplasia of the optic nerves Figure 3 and chiasm. Congenital absence of septum pellucidum.
In a Japanese patient with sporadic pituitary and optic nerve hypoplasia, Tajima et al. Loading Stack – 0 images remaining.