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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It is often unclear if the hypopituitarism is due to a primary pituitary dysfunction or is secondary to a hypothalamic dysfunction. The procedure lasted about 80 min and the patient morsierr transported to the postanesthetic care unit, conscious and in spontaneous ventilation.
Endocrine status in patients with optic nerve hypoplasia: 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. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
Prediction of intellectual outcome in infancy is difficult. De Morsier 2inassociated optic nerve hypoplasia to septum pellucidum agenesis and coined the term “septo-optic dysplasia” SODlater to be recognized as De Morsier syndrome.
Additionally, midline central nervous system abnormalities of the corpus callosum and cerebellum were demonstrated.
Orphanet: Sindrome di De Morsier
Prognosis Prognosis is variable, depending on the severity of the disease. Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. This study showed that even though most sporadic cases cannot be attributed to HESX1 gene mutations, a pattern of heterozygous autosomal dominant inheritance with incomplete penetration exists. The mortality related to general anesthesia in such patients put us some challenges.
There were no other congenital abnormalities. Ssindrome material may be challenged and removed. Optic nerve hypoplasia syndrome: Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. CT scan of the brain demonstrated absent septum pellucidum and corpus callosum. National Center for Biotechnology InformationU. The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present.
Concerning phenotypic variability, Thomas et al. It is rare for siblings to present sindromme identical features of the septo-optic dysplasia spectrum.
At birth, the male was found to have morsiwr and cryptorchidism, and hypoglycemia was detected at 4 hours of age. Brain transverse section showing agenesis of septum pellucidum. Sudden death in septo-optic dysplasia: The endocrine spectrum of septo-optic dysplasia. Septo-optic dysplasia in two siblings. Genetic analysis of the HESX1 gene in 18 patients with sporadic septooptic dysplasia revealed no abnormalities, suggesting that mutations in the HESX1 gene are not a frequent occurrence in sporadic disease.
Septo-optic dysplasia is one of the most common forms of congenital growth hormone deficiency. In utero exposure to cocaine and other street drugs can lead to septo-optic dysplasia. Septo-optic dysplasia associated with cerebral cortical dysplasia cortico-septo-optic dysplasia.
J Clin Endocrinol Metab ; Wales and Quarrell described a sister and brother from a consanguineous mating in whom septooptic dysplasia was present, suggesting mendelian inheritance.
The optic nerve hypoplasia is generally manifested by nystagmus involuntary eye movements, often side-to-side and a smaller-than-usual optic disc.
An empty sella with or without an ectopic pituitary was seen in 4 cases.
Septo-optic dysplasia – Wikipedia
All patients had short stature. HR Atrichia with papular lesions. All children had corticotropin deficiency, all had thermoregulatory disturbances, and 4 children had diabetes insipidus.
Johns Hopkins Med J ; In all 4 patients, similarly to our case, periventricular heterotopia was characterized by few subependymal nodules, ranging from 1 to 7. Walter George Seventh edition ed. A review of the epidemiology and clinical associations.
Septo-optic dysplasia/de Morsier’s syndrome
You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. De Morsier syndrome, septo-optic dysplasia, periventricular nodular heterotopia, primary hypothyroidism. Some additional modality sindrlme features may also be visible.
Case 2 Case 2. Septo-optic dysplasia in two siblings. Genetic disorderprotein biosynthesis: In addition, direct sequencing of HESX1 was performed in patients with familial hypopituitarism from 66 unrelated families and in 11 patients born to consanguineous parents. Septo-optic dysplasia is a developmental disorder resulting from a defect of normal embryological development. Retrieved 5 February Head circumference and weight were within normal limits.
Arch Dis Child ; The relevance of this case report relies on its uniqueness, since periventricular heterotopia had not been described in association with septo-optic dysplasia until SOD appears to be at the high severity end of a spectrum of central nervous system malformations that involve, in various degrees, optic nerves, hypothalamic-pituitary axis and other midline structures such as the septum pellucidum and the corpus callosum.