Laporan Kasus : Septo Optic Dysplasia (de Morsier Syndrome)

Septo optic dysplasia (SOD) adalah kelainan kongenital yang jarang ditemukan, dengan angka kejadian 1 : 10.000 kelahiran hidup. Karakteristik SOD adalah ditemukannya dua dari tiga kelainan berupa disgenesis septum struktur midline otak, disgenesis saraf optikus, dan disfungsi kelenjar pituitari. Kami melaporkan seorang pasien perempuan berusia 11 tahun datang dengan keluhan mata juling dan gangguan penglihatan. Pada pemeriksaan mata, didapatkan visus mata kanan 1/60 dan mata kiri 6/6. CT scan menunjukan hipoplasia selubung saraf optikus kanan dan agenesis septum pelusidum. Pada pasien tidak terdapat gangguan pertumbuhan ataupun perkembangan serta tidak terdapat gangguan neurologi. Pemeriksaan radiologis memiliki peranan yang penting dalam membantu menegakkan diagnosis SOD karena baik untuk mengevaluasi struktur otak dan saraf optikus

Septo-optic dysplasia with amniotic band syndrome sequence: a case report

Introduction De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum pellucidum and corpus callosum dysgenesis. Diagnosis is made clinically by the presence of any two or more features from the clinical triad. Case presentation We report a case of a premature African newborn male baby born to nonconsanguineous parents who presented to our institution with agenesis of the septum pellucidum, unilateral optic nerve hypoplasia, and pituitary stalk hypoplasia. However, he had intact central endocrine function. He also presented with limb defects due to constricting amniotic band syndrome. Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal neurological examination result. Over time, he had an adequate weight gain and was managed by a multidisciplinary team. Conclusion De Morsier syndrome still represents a diagnostic challenge, despite advances in neuroimaging and genetic studies, due to the heterogeneous nature of the disorder. This case adds to existing knowledge on the vascular pathogenesis of septo-optic dysplasia.

Acute Psychosis Associated with Septo-Optic Dysplasia (De Morsier Syndrome)

Background: Septo-optic dysplasia (SOD), a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome. Psychiatric symptoms in SOD were implicated in one case due to abnormal regulation of neuroendocrine structures.Objective: Discussion of a case of SOD associated with psychosis and depression, exploring the role of anatomical and endocrine abnormalities in producing psychiatric symptoms.Methods: Literature was reviewed on the PubMed, Medline, and Web of Science. One case of SOD with psychosis was reported in 2008.Conclusions: Disruption of complex neural pathways, including the septum pellucidum and other limbic structures may have been involved in the psychiatric disturbances in this case. Further reporting of similar cases is needed for more understanding of these associations.

Neonatal hypoglycemia in the De Morsier syndrome

The article discusses the causes and diagnostic criteria of the septo-optic dysplasia or De Morsier syndrome. De Morsier syndrome attracts attention of endocrinologists due to the development secondary hypofunction of the endocrine glands and somatotropic deficiency associated with this disease. Septo-optic dysplasia is a polyetiologic disease. The relationship of the disease with the antenatal influence of alcohol, narcotic substances, neurotropic drugs, significant perinatal infections, maternal endocrine diseases, gene mutations, in particular, mutations in the HESX1 gene, encoding the pituitary transcription factors involved in the embryogenesis of the adenohypophysis. We report a clinical case of the disease accompanied by congenital hypopituitarism symptoms. The disease manifested in the neonatal period. The child had severe hypoglycemia in combination with neurological symptoms in the form muscle hypotonia and oculomotor disturbances. The diagnosis of the De Morsier syndrome was verified by the results of MRI of the brain. Endocrine disorders in this patient were characterized by low levels of ACTH, cortisol, IGF-1, and free T4. The administered therapy corrected endocrine disorders in the child. In summary, septo-optic dysplasia or De Morsier syndrome is the subject to interdisciplinary attention of neonatologists, endocrinologists, neurologists, optometrists, and geneticists.

Neonatal hypoglycemia in the De Morsier syndrome

The article discusses the causes and diagnostic criteria of the septo-optic dysplasia or De Morsier syndrome. De Morsier syndrome attracts attention of endocrinologists due to the development secondary hypofunction of the endocrine glands and somatotropic deficiency associated with this disease. Septo-optic dysplasia is a polyetiologic disease. The relationship of the disease with the antenatal influence of alcohol, narcotic substances, neurotropic drugs, significant perinatal infections, maternal endocrine diseases, gene mutations, in particular, mutations in the HESX1 gene, encoding the pituitary transcription factors involved in the embryogenesis of the adenohypophysis. We report a clinical case of the disease accompanied by congenital hypopituitarism symptoms. The disease manifested in the neonatal period. The child had severe hypoglycemia in combination with neurological symptoms in the form muscle hypotonia and oculomotor disturbances. The diagnosis of the De Morsier syndrome was verified by the results of MRI of the brain. Endocrine disorders in this patient were characterized by low levels of ACTH, cortisol, IGF-1, and free T4. The administered therapy corrected endocrine disorders in the child. In summary, septo-optic dysplasia or De Morsier syndrome is the subject to interdisciplinary attention of neonatologists, endocrinologists, neurologists, optometrists, and geneticists.

Septo-Optic Dysplasia: A Case Study

Septo-optic dysplasia (SOD) is a rare congenital heterogeneous malformation. SOD was formerly known as de Morsier syndrome, which associated a midline brain defect such as an absent septum pellucidum with optic nerve hypoplasia. The diagnosis of SOD is made when there are two or more characteristics of the classic triad. The triad consists of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects, although it can vary in the severity of clinical presentation and phenotype. The purpose of this article is to review a case and analyze the literature regarding prevalence, etiology, clinical presentation, diagnosis, and management of SOD.