• Neonatal Medicine
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• v.16 no.1
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• pp.81-84
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• 2009

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.

• Annals of Clinical Neurophysiology
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• v.20 no.2
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• pp.85-88
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• 2018

Septo-optic dysplasia is a congenital anomaly with diverse phenotypes from normal to mixtures of visual abnormality, endocrine dysfunction, psychomotor retardations and epileptic seizures. It is characterized by optic atrophy, pituitary dysfunction and midline structure abnormalities in corpus callosum or septum pellucidum. Diagnosis of septo-optic dysplasia plus is made when cortical malformations accompanied. Here we report a middle-aged woman with septo-optic dysplasia plus having unilateral optic atrophy, agenesis of septum pellucidum and cortical malformations.

• Journal of Yeungnam Medical Science
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• v.40 no.4
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• pp.419-422
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• 2023

Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

• Journal of Korean Neurosurgical Society
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• v.56 no.3
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• pp.281-283
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• 2014

McCune-Albright syndrome (MAS) is characterized by a triad of poly/monostotic fibrous dysplasia, caf$\acute{e}$-au-lait macules and hyperfunctioning endocrinopathies including human growth hormone excess. Acromegaly as a manifestation of endocrine hyperfunction with MAS is uncommon. Surgical excision may be challenging due to the associated severe fibrous dysplasia of the skull base. Through the endoscopic procedures, we treated a case of MAS presenting with compressive optic neuropathy due to fibrous dysplasia and acromegaly caused by growth hormone secreting pituitary adenoma. We reviewed the literature on GH excess in MAS to highlight its surgical and medical challenges.

• Journal of Korean Ophthalmic Optics Society
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• v.12 no.3
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• pp.151-158
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• 2007

In this study we investigated the embryo toxicity of three kinds of plant extracts during early development of African clawed frog, Xenopus laevis through FETAX assay (Frog Embryo Teratogenesis Aassay with Xenopus). The plants used in this study were the materials of the Korean herbal medicines, Polygala tenuifolia, Lycium chinensis and Comus officinalis. The test embryos exposed to 1, 10 and $100{\mu}g/ml$ of each plant extract and control embryos were incubated for 96h at $24{\pm}0.5^{\circ}C$. The focus of this study is to elucidate the malformation due to toxicity of plant extracts, especially, to elucidate plant inducing optic malformation. As a result, the growth inhibition of embryos, optic malformation, axial distortion, cephalic and abdominal edema, dysplasia of digestive track and hyper-pigmentation were occurred in all of extracts, and these malformations were increased to the increase of extract concentration. The rate of optic malformation was highest in $100{\mu}g/ml$ of Lycium chinensistreated group and 27% of tested 150 individuals showed optic hernia. The histological results showed enlarged ventriculum in brain, dysplasia of vitreous chamber in eye and unclear retinal layers.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.120-125
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• 2013

Purpose: McCune-Albright syndrome (MAS) is caused by activating mutations in the GNAS gene, resulting in peripheral precocious puberty, caf$\acute{e}$-au-lait spots, and polyostotic fibrous dysplasia (POFD). The aim of the present study was to describe the diverse clinical and endocrine characteristics of patients with MAS. Methods: Seven patients with MAS were included in this study and medical charts were reviewed retrospectively for following parameters: patient's sex and age at diagnosis, POFD, ovarian cysts, and precocious puberty. Results: The mean age at diagnosis was $5.8{\pm}4.2$ years. One patient was male (14%) and the other six patients were female (86%). Peripheral precocious puberty was associated with 6 patients (86%). Five patients manifested premature menarche as early as 2 to 5 years of age. Letrozole was administered to 4 patients, tamoxifen to one patient and GnRH agonist to one patient. Five females developed ovarian cysts. Thyroid function tests were performed in all patients and one patient showed hyperthyroidism (14%) and has been treated with methimazole. One patient presented with pseudohypoparathyroisdism, phosphaturia, calciuria suggesting hypophosphatemic rickets. Six patients (86%) revealed POFD. One patient had symptoms of optic nerve compression and secondary esotropia and 2 patients had bone pain. Conclusion: This study described clinical characteristics and endocrine complications of patients with MAS. Careful physical examinations with history taking and serial endocrine function tests should be needed to detect complications such as endocrinologic hyperfunction and POFD.

• Korean Journal of Veterinary Research
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• v.41 no.1
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• pp.113-121
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• 2001

Beagle is one of the most popular laboratory animal in a dog. We investigated the incidence of spontaneous ophthalmic disease in Beagles in order to make basic data for quality control of Beagles in Korea. We surveyed 389 beagles from 3 different farms. The average prevalence rate of ophthalmic diseases was 19.3%. The prevalence rate of cataracts was higher than any other ophthalmic diseases, 7.5% and then in order of corneal scar(2.1%), retinal hemorrhage(1.5%), post-inflammatory retinal change(1.5%), cherry eye(1.0%), distichiasis(0.8%), entropion(0.8%), hypoplastic optic disc(0.8%), conjunctivitis(0.5%), retinal dysplasia(0.5%), asteroid hyalosis(0.3%), congenital eye anomaly(0.3%), corneal lipidosis(0.3%), conjunctival hemorrhage(0.3%), lens capsule pigmentation(0.3%), persistent hyperplastic primary vitreous (0.3%), posterior synechia(0.3%), eyelid tumor(0.3%) and uveal cyst(0.3%) were diagnosed. There was a slight difference between male(24.8%) and female(17.4%) in prevalence rate of ophthalmic disease. The incidence of spontaneous ophthalmic disease was increased with age. These data would be useful for using Beagles as laboratory animals and standard reference for quality control of dogs.

• Korean Journal of Ecology and Environment
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• v.35 no.3 s.99
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• pp.198-212
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• 2002

A numerical variation and abnormalities were studied on egg bags and embryos of Korean salamander, Hynobius leechii from agricultural habitat. The teratogenic and toxic effects of fungicide benomyl were also investigated with early embryos from non-agricultural habitat. We collected 144 egg bags from agricultural region, and 3418 of early embryos were contained. The lengths of egg bags were varied from 10 to 23 cm and the most frequent length was 19 cm. The number of embryos was varied from 7 to 43, and the most frequent range was 22 to 26. Spontaneous abnormalities were occurred in 406 embryos among 116 egg bags, and 24 kinds of external abnormalities were found. Individuals showing severe external defect were histologically studied and they showed optic dyspalsia, thyroid carcinoma, somatic muscular dysplasia, partial biaxial structure, decrease of red blood cells in the heart, cephalic degeneration and intestinal dysplasia. 385 embryos from non-agricultural region were exposed to 200 nM${\sim}$ 1 ${\mu}$M of benomyl at blastula or gastrula for 12 days. All embryo were dead in the concentration of 1 ${\mu}$M (LD$_{100}$) and 75% of embryos were dead in 800nM of benomyl. Speciflc effect due to benomyl was acrania or cephalic dysplasia and this restult suggests that the benomyl inhibit stongly to the development of neural tissue. These abnormal developments may be caused by antimitotic action, inhibition of tubulin complex, destruction of microtubule, inhibitions of neurulation and closing of neural fold, and by the inhibition of the movement of neural crest cells.