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De Morsier syndrome associated with periventricular nodular heterotopia: case reporte. Síndrome de De Morsier associada a heterotopia nodular. DE MORSIER SYNDROME. Other entities represented in this entry: PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED. Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a condition characterised by optic nerve hypoplasia and absence of septum pellucidum.

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Strauss and Robert L.

Septo-optic dysplasia

Septo-optic dysplasia in two siblings. We think that combined anesthesia contributed to the abolition of pain and avoided adrenal suppression contributing for the success of the procedure. The procedure was imperative for improving the health and quality of life of the patient, so we opted for inhalational anesthesia combined with local infiltration.

Concerning phenotypic variability, Thomas et al. Health care resources for this disease Expert centres Diagnostic tests 44 Patient organisations 54 Orphan drug s 9. Although there are many measures to compensate for visual impairment, there are few treatments available to induce normal optic nerve function. Some additional modality dependent features may also be visible. Only comments written in English can be processed.

Three different heterozygous missense mutations were identified in 4 patients of 3 different pedigrees. Patients were divided into 4 groups based on septum pellucidum and hypothalamic-pituitary axis appearance: The posterior fossa changes suggested a variant of the Dandy-Walker syndrome Hypopituitarism and septooptic ‘dysplasia’ in first cousins.

Septo-optic dysplasia is one of the most common forms of congenital growth hormone deficiency. Differential diagnosis Differential diagnoses include congenital hypopituitarism sinsrome holoprosencephaly see these terms.


De Morsier syndrome associated with periventricular nodular heterotopia: case reporte

The genetic basis for SOD was suggested by Wales et al. Arch Dis Child ; Pituitary hormone deficiency, combined, 5. None of the patients in group 1 had endocrine dysfunction.

Conclusion The mortality related to general anesthesia in such patients put us some challenges. Septo-optic dysplasia SODde Morsier syndrome [1] [2] is a rare congenital malformation syndrome featuring underdevelopment of the optic nervepituitary gland dysfunction, and absence of the septum pellucidum a midline part of the brain. He had bilateral hypoplastic optic nerves, absence of the septum pellucidum, and sindroms with a normal pituitary-hypothalamic axis.

Etiology The majority of SOD cases are sporadic but familial cases have been described. All children had corticotropin deficiency, all had thermoregulatory disturbances, and 4 children had diabetes insipidus.

Septo-optic dysplasia/de Morsier’s syndrome

Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes, birth weight g, symptomatic hypoglycemia at 18 hours. Hum Mol Genet ; Am J Dis Child ; All patients had short stature. Synonyms simdrome Alternate Spellings: Ophthalmic paediatrics and genetics.

Case 6 Case 6.

Septo-optic dysplasia | Radiology Reference Article |

The degree of visual impairment is variable, and ranges from normal vision to complete blindness. J Clin Endocrinol Metab ; Optic nerve hypoplasia with hypopituitarism: At birth, the male was found to have micropenis and cryptorchidism, and hypoglycemia was detected at 4 hours of age. CT scan of the brain demonstrated absent septum pellucidum and corpus callosum. Vision and optic disc examination were sinsrome at 18 months. Additional findings may include diabetes insipidus, sleep disorders, autism, precocious puberty, obesity, thermoregulatory disturbances, anosmia, sensorineural hearing loss and cardiac and digital anomalies.


Ophthalmologic evaluation showed bilateral optic disk hypoplasia. Stevens and Dobyns reported a boy sindromf optic nerve hypoplasia, pituitary dysfunction, and Sindromme findings consistent with septooptic dysplasia, who also had multiple limb defects suggestive of amniotic bands. August Learn how and when to remove this template message.

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. The following descriptions of patients with optic nerve hypoplasia and septum pellucidum agenesis included endocrinological abnormalities related to malfunctioning sindorme the hypothalamic-pituitary axis, with predominance of growth hormone GH deficiency resulting in growth failure In a patient with combined pituitary hormone deficiency, but without optic nerve hypoplasia, Carvalho et al.

Electroencephalogram EEG was normal at 9 months.

Curr Treat Options Neurol. Introduction of a reinforced laryngeal airway mask and IV administration of hydrocortisone 50 mg plus dexamethasone 4 mg was carried out.

We are determined to keep this website freely accessible. Mutations in these genes are detected in Diagnostic methods Clinical diagnosis requires the presence of at least two of the features of the classical triad and can be confirmed by ophthalmological studies, MRI, and dynamic pituitary function tests.

However, inMitchell et al.

Anesthetic induction with sevoflurane plus air and placement of an intravenous IV access were performed. Optic nerve hypoplasia syndrome: Am J Ophthalmol ; De Morsier syndrome, septo-optic dysplasia, periventricular nodular heterotopia, primary hypothyroidism.