• The Journal of the Korea Contents Association
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• v.11 no.4
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• pp.290-302
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• 2011

The purpose of this research was to investigate the effects of vestibule-oriented sensory integration treatment on the nystagmus, visual perception and balancing ability of children with developmental disability. Twenty three children with developmental disability were participated in this experiment. Subjects were received the vestibule-oriented sensory integration treatment based on Ayres' sensory integration theory for 12 weeks. The effects of the treatment were evaluated by Southern California Postrotary Nystagmus Test (SCPNT), Developmental Test of Visual Perception-2 (DTVP-2), Pediatric-Clinical Test of Sensory Integration Balance (P-CTSIB), South California Sensory Integration Test (SCSIT) and the selected item in Bruininks-Oeretsky Test of motor proficiency (BOT). The collected data were analyzed by using Wilcoxon test. The result of this study was as follows that the data of the Nystagmus shown statical significant. The data of the Visual Perception and Balancing ability shown statical significant. The proposed vestibule-oriented sensory integration treatment was effective to improvement of nystagmus, the visual perception and the balancing ability in children with Developmenantal Disability.

• Journal of Veterinary Clinics
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• v.23 no.3
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• pp.337-339
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• 2006

A 4-year-old, spayed female Maltese dog was presented for evaluation of acute onset of generalized tremor, right-sided head tilt, horizontal nystagmus, and mild ataxia with 4-day duration. However, the dog was bright, alert, and responsive. The neurological examinations revealed that bilateral horizontal-, positional nystagmus, and mild ataxia. Menace responses were also absent in both eyes. Typically, moderate generalized intension tremors were noted in four limbs and the head. No abnormalities were found in hemogram, radiography, and magnetic resonance imaging(MRI). Cytologic examination of cerebrospinal fluid(CSF) revealed a mild nonsuppurative inflammation. Thus, steroid responsive tremor syndrome(SRTS) was strongly suspected because of its inflammatory and idiopathic features. The dog excellently responded to immunosuppressive doses of corticosteroid. Therefore, we definitively diagnosed the dog as SRTS based on the exclusion of other causes of the tremor, clinical signs, and response to treatment. This is a first case report of SRTS in our country and we here describe clinical and neurological features in SRTS.

• Journal of Veterinary Clinics
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• v.29 no.4
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• pp.328-330
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• 2012

A 13-year-old, neutered male, chihuahua was referred to the Veterinary Medical Teaching Hospital of Chungnam National University with a history of a bilateral mandibular mass, intermittent vomiting, cough, and left sided staggering starting ten days prior. Clinical examination along with radiography, neurologic examination and magnetic resonance imaging (MRI) demonstrated a well-circumscribed and solitary mass in the brain stem. The dura mater was thickened with marked linear enhancement after contrast administration. Based on diagnostic image analysis and histopathologic examination, this case was diagnosed as intracranial meningioma. The patient's symptoms were controlled for 18 months by a combination therapy of prednisolone and lomustine (CCNU), and then he died of at home.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.17 no.2
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• pp.106-111
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• 2004

Vertigo is a symptom, not a disease. The tenn vertigo refers to the sensation of spinning or whirling that occurs as a result of a disturbance in balance. It's sometimes referred to as a hallucination of motion. The cause of vertigo is very various and generally divided into peripheral and central. A patient presented with severe vertigo, nystagmus and heteophoria. She has taken the BanHaBaekChulChunMa-tang and treated by acupuncture. After 2 days, her symptoms become disappeared and about 1 week, all symptoms except heterophoria were disapperaed. And after 2 weeks, heterophoria was disappeared. In conclusion, we diagnosed her case as vestbular neuronitis by her clinical course, but we also considered her illness as vertebrobasilar insufficiency, TIA etc.

• The Journal of Korean Academy of Sensory Integration
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• v.3 no.1
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• pp.1-11
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• 2005

Objective : The purpose of this study was to get the mean of duration of post-rotatory nystagmus test in normal children and to differentiate the duration of post-rotatory nystagmus test between normal children and children with pervasive developmental disorder. Method : 84 subjects were between 3 and 5 years of age and consisted of 64 normal children and 20 children with the pervasive developmental disorder. Analysis of the data was done by using t-test and ANOVA. Results : The results were as follows: 1. Range of duration of post-rotatory nyatagmus test in normal children was $5{\sim}22$second on left and $7{\sim}21$ second on right and the mean was 12.63 second on left and 12.59 second on right. 2. Range of duration of post-rotatory nystagmus test in children with the pervasive developmental disorder was $3{\sim}11$ second on both and the mean was 5.65 second on left and 5.60 second on right. 3. There was no significant difference between males and females with normal children in duration of post-rotatory nystagmus test. However, there was a significant difference of the mean duration between 3 and 5 years old normal group. 4. Children with pervasive developmental disorder significantly have relatively lower duration than the duration of post-rotatory nystagmus test of normal children. Conclusions : The results of the study showed significant difference between normal children and children with pervasive developmental disorder in duration of post-rotatory nystagmus test and suggest that they could be applied to the baseline of clinical therapy.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.87-90
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• 2009

Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other Noonan-related diseases by the distinct craniofacial features of sparse hair, a hypoplastic supraorbital ridge, exophthalmos and nystagmus, and skin manifestations such as ichthyosis and hyperkeratosis. However, phenotypes can overlap among Noonan-related syndromes, including CFC syndrome. Recently, several genes in the RAS-MAPK pathway have been identified as disease-causing genes for Noonan-related diseases. Here, we report on a Korean girl diagnosed with CFC syndrome caused by a V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and we discuss the phenotype-genotype heterogeneities in Noonan syndrome and Noonan-related diseases.

• Journal of Veterinary Clinics
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• v.32 no.2
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• pp.212-214
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• 2015

Encephalitoozoon cuniculi is an obligate intracellular microsporidian parasite commonly found in rabbits, causing encephalitozoonosis. This organism can also infect a wide range of hosts including humans, which is known to cause opportunistic infections in immunocompromised individuals. In this case, four rabbits presented with head tilt and nystagmus were diagnosed for E. cuniculi infection using ELISA. The rabbits were treated with fenbendazole for 4 weeks and therapeutic success was evaluated by assessing the neurological symptoms. Three out of 4 rabbits showed improved health condition 3 to 5 days after treatment, but one rabbit showed persistent anorexia and head tilt after treatment and then died after 10 days. This report is the first to investigate the therapeutic response of fenbendazole for rabbit encephalitozoonosis in Korea, and suggests that pet rabbits may serve as potential E. cuniculi reservoirs for both pet animals and humans.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.10 no.11
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• pp.3412-3417
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• 2009

The purpose of this study was to compare the quality of life in low vision to the one in normals. 20 multifactorial patients in low vision and 20 age-matched healthy normals took part in the survey and were orally estimated using NEI VFQ-25. The age of participants ranged 25 to 78. The mean score in low vision subjects was 55.88$\pm$14.76, whereas the one in normal subjects was 94.47$\pm$3.78. The age of low vision subject was highly correlated with the item Near Activities(r=-0.584), their LogMAR was fairly good correlated with the item Peripheral Vision(r=0.527). The quality of life in low vision is considerably depressed comparing to normals. Is there the nystagmus in low vision patient, it is inferred that the quality of life considerably leads to the problem.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.471-475
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• 2009

Purpose : Mitochondrial disorders are a clinical entity characterized by diverse symptoms and signs of involvement of various systems. Furthermore, the disorders are known to show ophthalmologic manifestations as well as neurological findings. Visually evoked potential is a sensitive measure to check the integrity of the visual pathway. In this study, we have investigated the value of visually evoked potential in mitochondrial disorders with respiratory chain defects. Methods : Nineteen patients diagnosed with mitochondrial respiratory chain complex I defect as confirmed by spectrophotometric enzyme assay in muscle samples were enrolled for this study. The patients underwent a visually evoked potential study. We classified the results into four groups and compared these with clinical ophthalmologic findings. Results : Among the 19 patients, 14 showed abnormal visually evoked potential findings. Seven patients showed abnormal clinical ophthalmologic findings. All patients with abnormal ophthalmologic findings showed abnormal visually evoked potential findings. Among the 12 patients with normal ophthalmologic findings, seven showed abnormal results in visually evoked potential. Conclusion : Visually evoked potential study could be used as an effective screening tool for mitochondrial disorders to detect ophthalmologic and neurological abnormalities.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.