January 6, 2019


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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D ICD – Etiology The majority of SOD cases are sporadic but familial cases have been described. The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Additional information Further information on this disease Classification s 5 Gene s 7 Clinical signs and symptoms Other website s Congenital malformations and deformations of nervous system Q00—Q07— The patient presented with 7 episodes of epileptic seizures at the same day, described by the mother as a scream followed by hyperextension of all 4 limbs and cervical hyperextension, evolving to a generalized clonic phase.

J Clin Endocrinol Metab ; Septooptic dysplasia SOD is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

A thorough understanding of these complex associations seems to lie in the comprehension of the intricate course of forebrain and cortical development and the role of HESX1 gene in this process.

Johns Hopkins Med J ; A high prevalence of pituitary dysfunction was revealed, most commonly GH deficiency and failure of the pituitary to respond to thyrotropin releasing hormone TSH; The mortality related to general anesthesia in such patients put us some challenges.

Mutations in the HESX1 gene were confirmed by other studies. Seizures, developmental delay, and cerebral palsy are the most frequent neurologic associations.

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De Morsier syndrome associated with periventricular nodular heterotopia: case reporte

Prediction of intellectual outcome sihdrome infancy is difficult. By using this site, you agree to the Terms of Use and Privacy Policy. Septo-optic dysplasia associated with cerebral cortical dysplasia cortico-septo-optic dysplasia. The cause of the jaundice is unknown, and an unusual aspect of it compared to most neonatal jaundice is that it can be largely a conjugated direct hyperbilirubinemia suggestive of obstructive liver disease.

Septo-optic dysplasia | Radiology Reference Article |

August Learn how and when to remove this template message. Magnetic resonance imaging MRI at 10 months revealed agenesis of the pituitary stalk and hypoplasia of the optic chiasm suggestive of SOD, normal septum pellucidum, multiple foci of periventricular nodular heterotopia at left frontal and bilateral parieto-occipital regions, focal thickening of the quadrigeminal plaque causing relative stenosis of the distal half of the cerebral aqueduct without any evidence of obstruction of the supratentorial ventricular system Figs 1 and 2.

He subsequently developed profound but transient hypocalcemia which responded to calcium and vitamin D supplements. Please help improve this article by adding citations to reliable sources.

In all cases an asymptomatic parent was found to harbor the mutation, along with an asymptomatic sibling of one affected individual. Associated cortical malformations have also been reported sometimes referred isndrome as SOD-plus syndrome.

Early diagnosis is associated with a better outcome as it allows timely management of hormone insufficiencies. Billson F, Hopkins IJ.

None of them displayed optic nerve or septum pellucidum abnormality.

J Clin Endocrinol Metab. De Morsier syndrome, septo-optic dysplasia, periventricular nodular heterotopia, primary hypothyroidism. Septo-optic dysplasia with growth hormone deficiency De Morsier syndrome. Anterior pituitary hormone replacement therapy was begun at 7 days and she remained well subsequently.

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In addition to enlarged lateral ventricles with an absent septum pellucidum, CT may demonstrate small optic apparatus best seen with volumetric scanning and coronal reformats and associated small bony optic foramina. You can help by adding to it.


Median cranioencephalic dysraphias and olfactogenital dysplasia. Optic nerve hypoplasia with hypopituitarism: Health care resources for this disease Expert centres Diagnostic tests 44 Patient organisations 54 Orphan drug s 9. Maternal factors in septo-optic dysplasia. 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.

Septo-optic dysplasia

Pituitary hormone deficiency, combined, 4. Am J Dis Child ; Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. All patients studied had at least 1 of the 3 classic features associated with septooptic dysplasia optic nerve morzier, hypopituitarism, and midline forebrain defects.

Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. We need long-term secure funding to provide you the information that you need at your fingertips. Endocrine function laboratory tests revealed primary hypothyroidism and hyperprolactinemia.

In addition, direct sequencing of HESX1 was performed moorsier patients with familial hypopituitarism from 66 unrelated families and in 11 patients born to consanguineous parents. Unsourced material may be challenged and removed. In a patient with combined pituitary hormone deficiency, but without optic nerve hypoplasia, Carvalho et al.

Author information Copyright and License information Disclaimer. The posterior fossa changes suggested a variant of the Dandy-Walker syndrome