• Journal of Yeungnam Medical Science
• /
• v.36 no.2
• /
• pp.152-154
• /
• 2019

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.

• The Journal of Internal Korean Medicine
• /
• v.43 no.5
• /
• pp.929-939
• /
• 2022

This case report determines the effects of Korean medicine treatment on a pontine hemorrhage with a cavernous malformation. In this study, Korean medicine treatments, such as herbal medicine, acupuncture, electro-acupuncture, and moxibustion, were administered for 30 days. During the hospitalization period, evaluations were performed using the Scott and Kraft Scale, eye movement, 9-gaze photography, the House-Brackmann grading system, and Yanagihara's unweighted grading system on days 1, 12, and 30. The Scott and Kraft Scale increased from -4 to -2, while eye movement increased from 43.1% to 72.3%. The House-Brackmann grading system improved from 4 to 2, and Yanagihara's unweighted grading system increased from 13 to 31. We also discovered that the movement of the left eye was improved by 9-gaze photography. Our findings suggest that Korean medicine treatment has potential effects on esotropia and facial palsy caused by a pontine hemorrhage with a cavernous malformation.

• Korean Journal of Oriental Medicine
• /
• v.1 no.1
• /
• pp.321-333
• /
• 1995

The author performed in 10 cases under the age of 13 years who were visited to hospital from July 1994 to July 1995. I have assessed information such as type of deviation, detected time of strabismus, past history, family history. The most of patient were esotropia. I have experienced good improvement to recover strabismus by the Oriental Medicine. The acupuncture points of B2, TE23, S1, G14, E36 were used. Herbal medicine was treated GAMIBOJOONGYKGI-TANG. It was supposed to encourage digestive system and to continue elastic capacity. From the results of this study, it is effective to change of correct position at the deviatinal eyeball and to treat amplyopia with strabismus. It was reported possble to treat strabismus without operation and glasses.

• The Journal of Korean Medicine
• /
• v.29 no.1
• /
• pp.207-222
• /
• 2008

Objectives : I report 12 cases of strabismus presented at [Oriental Medical Clinic of Kim Joong-Ho and Strabismus - Amblyopia Clinic, East-West Neo Medical Center, Kyung Hee University] from 2nd March 2006 to 29th February 2008. All have experienced good improvement of strabismus by treatment with Oriental medicine. Methods : Patients were treated with acupuncture, infra-red and herb medicine. The acupuncture points of (B2) 絲竹空(TE23) 承泣(S1) 陽白(G14) 太陽(E36) were mainly used. Herb medicines prescribed were Gagamseunggal-tang and Gamiboik-tang. Results : 9 cases of strabismus were caused by paralysis of the sixth cranial nerve and the third cranial nerve, while 3 cases happened with concomitant strabismus of esotropia and exotropia. They were treated to recover paralytic muscles and unelastic muscles around the eyes and face. Treatment took between 1 and 8 months. Conclusions : In the results of this study, treatment was effective to correct position at the eyeball. I report it is possible to treat strabismus successfully with Oriental medicine in a shorter time compared to western medicine.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
• /
• v.8 no.1
• /
• pp.133-142
• /
• 1995

The author performed in 10 cases under the age of 13 years who were visited to hospital from July 1994 to July 1995. I have assessed information such as type of deviation, detected time of strabismus, past history, family history. The most of patient were esotropia. I have experienced good improvement to recover strabismus by the Oriental Medicine. The acupuncture points of B2, TE23. S1, G14, E36 were mainly used. Herbal medicine was treated GAMIBOJOONGYKGI-TANG. It was supposed to encourage digestive system and to continue elastic capacity. From the results of this study, it is effective to change of correct position at the deviational eyeball and to treat amp1yopia with strabismus. It was reported possble to treat strabismus without operation and glasses.

• Journal of Genetic Medicine
• /
• v.19 no.2
• /
• pp.100-104
• /
• 2022

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in about 20%, and DEE with spike-and-wave activation in sleep (SWAS) is reported only in several cases. A 10-year-old boy with DEE showed multidrug resistant focal seizures from 6 months of age. He had progressive microcephaly, regression, global developmental delay without speech, hyperkinesia, and truncal ataxia; he had a long thin face, esotropia, and happy demeanor. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Electroencephalogram at 7.5 years of age showed nearly continuous diffuse paroxysms in slow wave sleep. The seizures were responsive to corticosteroids for a while. Trio whole exome sequencing exhibited a likely pathogenic variant of SLC9A6 in the proband and his asymptomatic mother: c.1194dup (p.Leu399AlafsTer12). This is a rare case report of CS with DEE-SWAS in a Korean patient.

• Clinical and Experimental Pediatrics
• /
• v.45 no.5
• /
• pp.711-715
• /
• 2002

The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
• /
• v.16 no.1
• /
• pp.168-178
• /
• 2003

Strabismus refers to a extra-ocular muscle imbalance that results in improper alignment of the visual axes of two eyes. It may be divided into paralytic and non-paralytic strabismus. Paralytic strabismus is primarily a neurological problem: non-paralytic strabismus is more strictly an ophthalmologic problem. This case report focuses on paralytic strabismus resulting from palsies of the third and the sixth cranial nerves, respectively. Oculomotor nerve palsies result in binocular diplopia with characteristic patterns of strabismus. Oculomotor nerve provides motor and parasympathetic innervation to the eyes. Acquired oculomotor nerve palsies are not uncommon. Injury to the third nerve may result in complete or partial dysfunction. Complete third nerve palsy is manifested by ptosis, dilated pupil, an eye that is deviated down and out in primary position, and limited adduction, elevation, and depression. Patients with unilateral sixth nerve palsy complain of binocular, horizontal diplopia esotropia in the primary position due to unopposed action of the medial rectus and limitation of abduction due to weakness of the lateral rectus. Diplopia is worse in the direction of the paretic lateral rectus muscle. Paralytic strabismus are treated, based on the theory of Oriental medicine. with berbal medicines having gun-bi(健脾), bae-to(培土), gue-pung(祛風) effect of acupuncture around the eyes and etc. We describe a 63-year-old woman with complete the 3rd cranial nerve palsy and a 32-year-old woman with the unilateral 6th cranial nerve palsy who treated with acupuncture and herbal medicines and showed complete recovery.

• Journal of the Korean Society of Radiology
• /
• v.81 no.5
• /
• pp.1246-1249
• /
• 2020

Tubulinopathy commonly refers to complex congenital and non-progressive brain malformations caused by mutations in the tubulin genes. Among tubulin-encoding genes, TUBB3 has rarely been reported as a cause of complex cortical malformations. Herein, we report a case of tubulinopathy in a 21-month-old boy who presented with delayed development. He could not walk on his own and was not able to speak more than five words. Physical examination revealed right esotropia and hypotonia of the lower extremities. MRI showed dysmorphic brainstem and dysmorphic and hypertrophic basal ganglia. The right thalamus was relatively smaller than the left one. The cerebellum showed disorganization of the cerebellar folia. DNA sequencing revealed a missense mutation of the TUBB3 gene.

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