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Case Report
Parry-Romberg syndrome with ipsilateral hemipons involvement presenting as monoplegic ataxia
Yun-Jin Lee, Kee-Yang Chung, Hoon-Chul Kang, Heung Dong Kim, Joon Soo Lee
Clin Exp Pediatr. 2015;58(9):354-357.   Published online September 21, 2015

Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration. It is sometimes accompanied by ipsilateral brain lesions and neurological symptoms. Here we present the case of a 10-year-old girl with right-sided PRS and recurrent monoplegic ataxia of the...

A pediatric case of Bickerstaff's brainstem encephalitis
Ju Yi Park, Kyong Og Ko, Jae Woo Lim, Eun Jung Cheon, Jung Min Yoon, Hyo Jeong Kim
Clin Exp Pediatr. 2014;57(12):542-545.   Published online December 31, 2014

Bickerstaff's brainstem encephalitis is characterized by ophthalmoplegia, ataxia, and disturbance of consciousness. It is similar to Miller Fisher syndrome, a variant of Guillain-Barre syndrome, in that they share features such as ophthalmoplegia and ataxia. The difference is that patients with Bickerstaff's brainstem encephalitis have impaired consciousness, whereas patients with Miller Fisher syndrome have alert consciousness and areflexia. Here, we report...

Original Article
Expression of Expanded Polyglutamine Disease Proteins in Drosophila (Drosophila Polyglutamine Disease Models)
Sang Min Shin, Kyung Hoon Paik, Dong Kyu Jin
Clin Exp Pediatr. 2005;48(4):425-432.   Published online April 15, 2005
Purpose : Polyglutamine diseases are a group of diseases caused by the expansion of a polyglutamine tract in the protein. The present study was performed to verify if polyglutamine disease transgenic Drosophila models show similar dysfunctions as are seen in human patients. Methods : Polyglutamine disease transgenic Drosophila were tested for their climbing ability. And using genetic methods, the effects of...
Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome
Hang Bo Jeong, Se Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Seung Cheol Kim, In-One Kim
Clin Exp Pediatr. 1997;40(3):385-392.   Published online March 15, 1997
Purpose : Joubert syndrome is known tobean autosomal recessive disorder characterized by cerebellar vermian dysgenesis with many symptoms and variety of other malformations. We studied the relevant symptoms and various malformations of seven patients diagnosed as Joubert syndrome at our institution. Methods : Seven children with cerebellarvermian dysgenesis consistent with Joubert syndrome were included in ourstudy. Each child was diagnosed at the Seoul National University Children's...
Occult Mediastinal Ganglioneuroblastoma Presenting with Myoclonic Encephalopathy as Paraneoplastic Syndrome
Hahng Lee, Dong Ki Han, Jae Won Oh, In Joon Seol, Eun Kyung Hong, Seok Chol Jeon
Clin Exp Pediatr. 1994;37(5):695-700.   Published online May 15, 1994
Ganglioneruroblastoma and neuroblastoma are among commonest types of childhood malignancy and a number of unique paraneoplastic syndromes have been associated with both localized and disseminated neuroblastoma. The coincidence of neuroblastoma and myoclonic encephalopathy or other paraneoplastic syndromes occurs relatively rare, and therefore, failure to recognize this association could result in delays in both diagnosis and treatment, and the result...
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