• Journal of Korean Physical Therapy Science
• /
• v.3 no.2
• /
• pp.1055-1064
• /
• 1996

To this is the concept and changes of physical treatment that intervenes the understanding and restoring cerebral infantile paralysis in the medical welfare of the social well-being areas: Cerebral palsy, originated by Littel in 1862 and reported as "The cerebral palsies" by William and Osler, come to have its name and meaning. The early stage of intervention generally accepted by the circle of physical treatment in the medical profession was introduced by Sax in 1964. In Sax' theory, cerebral palsy is defined as "the stumbling block in the bodily exercises and postures, causing by the intercurrent disease or physical, mental defect." As we have seen it is desirable that the abovementioned limited steps be removed and allow physical therapists to examine and to treat cerebral palsies. For this, first educational system should make its way to a substantial improvement and congenital abnormal Test should be rapidly expanding to great proportions the whole nation, not part of the low-income group. Physical therapists, cerebral palsies and their parents must combine to make cerebral palsies' welfare the crowning well being state. Physical therapists, cerebral palsies and their parents, forming of trinity, should combine to make cerebral palsies' welfare the Super-Welfare State existence.

• Journal of Chest Surgery
• /
• v.27 no.11
• /
• pp.930-937
• /
• 1994

Pulmonary sequestration, congenital cystic adenomatoid malformation[CCAM], infantile lobar emphysema[ILE], and bronchogenic cysts are four congenital lesions that show abnormal cystic areas within the lung field in early life. They share similar embryologic and clinical characteristics, Therefore they are sometimes difficult to make differential diagnosis each other, and all require surgical treatment. From 1984 to 1993, 20 patients underwent surgical corrections under these diagnostic categories[10 bronchogenic cyst, 4 pulmonary sequestration, 4 CCAM, and 2 ILE] in the department of thoracic & cardiovascular surgery, Inje University, Pusan Paik Hospital. There were 9 females and 11 males, Ages ranged from 26 days after birth to 69 years. Among them 5 cases of bronchogenic cyst were found out incidentally, but remained all 15 cases were noted as symptomatic cases. Recurrent pulmonary infections, respiratory distress and cough with cystic lesions in chest film were the main characteristics of them. Computed tomography and aortography were available for diagnostic conformation. For all the cases surgical resection were performed: 1 pneumonectomy, 2 bilobectomy, 9 lobectomy, 7 cyst resection and 1 mass[extralobar pulmonary sequestration] resection. All surgical treatments were well tolerated with no physical limitation. There was no operative mortality, and only one postoperative complication[empyema thoracis]. All patients were followed up ranging from 4 months to 9 years. A clinical awareness of these related lesions is important for prompt diagnosis and effective surgical treatment.

• Clinical and Experimental Pediatrics
• /
• v.46 no.9
• /
• pp.934-938
• /
• 2003

Canavan disease, also known as van Bogaert-Bertrand disease, is a rare autosomal recessive disorder characterized by early an onset and a progressive spongyform degeneration of the brain, associated with an edema of the central nerve system, intramyelinic swelling and neurologic symptoms. This disorder is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly and seizures. Canavan disease is caused by the accumulation of N-acetylaspartic acid(NAA) in the brain as the result of a deficiency of aspartoacylase(ASPA) activity. Most children are reported to have the infantile form, becoming symptomatic between three and six month of age, after unremarkable prenatal and perinatal course. We experienced a case of Canavan disease in a six day old female newborn baby, associated with seizure, degeneration of brain white matter and markedly elevated urine N-acetylaspartic acid(NAA) level. So, we report the case with a brief review of the related literature.

• Journal of Genetic Medicine
• /
• v.10 no.2
• /
• pp.88-93
• /
• 2013

Alexander disease (ALXD) is a rare demyelinating disease of the white matter of the brain that is caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. The overexpression of GFAP in astrocytes induces a failure in the developmental growth of the myelin sheath. The neurodegenerative destruction of the myelin sheath of the white matter is accompanied by an accumulation of abnormal deposits of Rosenthal fibers in astrocytes, which is the hallmark of ALXD. The disease can be divided into four groups based on the onset age of the patients: neonatal, infantile, juvenile, or adult. Early-onset disease is more severe, progresses rapidly, and results in a shorter life span than late-onset cases. Magnetic resonance imaging and genetic tests are mostly used for diagnostic purposes. Pathological tests of brain tissue for Rosenthal fibers are definitive diagnostic methods. Therapeutic strategies are being investigated. Ceftriaxone, which is an enhancer of glial glutamate transporter (GLT-1) expression, is currently in clinical trials for the treatment of patients with ALXD. To date, there are no clinically available treatments. The cause, pathology, pathophysiology, inheritance, clinical features, diagnosis, and treatment of ALXD will be reviewed comprehensively.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
• /
• v.48 no.2
• /
• pp.117-121
• /
• 2022

Infantile osteomyelitis is a rare disease that is infective in nature and may rapidly turn fatal, as the disease is often misdiagnosed due to its varied presenting signs. Early diagnosis may help in avoiding systemic involvement and permanent deformity. The disease presents with signs of orbital involvement, nasal congestion, and emesis, as well as other standard hallmarks of infection. Furthermore, the maxilla is a highly vascular and porous bone and the occurrence of osteomyelitis in an infant maxilla is highly uncommon. In addition, routine blood work is not suggestive of the presence of this disease. Thus, prompt diagnosis of this condition poses a challenge to surgeons due to the confusing array of symptoms combined with the rarity of the disease. One such case of osteomyelitis of the maxilla in a young child is presented. The dilemma encountered by the surgeon during the diagnosis and treatment of the disease is discussed.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.22 no.1
• /
• pp.9-14
• /
• 2022

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.25 no.3
• /
• pp.555-561
• /
• 1998

Hypophosphatasia is a rare metabolic disorder which manifests characteristics such as abnormal mineralization of bone and dental tissues, diminished serum and tissue alkaline phosphatase, and increased urinary secretion of PEA. It inherited as an autosomal recessive or dominant trait and occurs in all races. In general, hypophosphatasia can be classified in 4 subtypes which are the perinatal, infantile, childhood, adult type depending upon the age at presentation and severity. In young children with Hypophosphatasia the long bones show irregular defects, and the skull showes poor calcification. In older children with premature closure of the skull sutures there may be multiple lucent area called gyral or convolutional markings, described as resembling beaten copper, presumably resulting from increased intracranial pressure. Examination of the jaws reveals a generalized lucency of the maxilla and mandible. the cortical bone and lamina dura are thin, and the alveolar bone may be deficient. Clinical features of Hypophosphatasia include premature loss of deciduous teeth, especially incisors, hypoplasia or aplasia of root cementum, enamel hypoplasia, irregular calcification of dentin, large pulp chamber, and resorption of marginal alveolar bone and roots. Our report involves a patient with a chief complaint of early loss of both Mx. and Mn. deciduous incisors. After conducting a through clinical and radiographic examination this patient was referred to pediatrics under the suspicion of hypophosphatasia, the diagnosis proved to be correct and successful results were accomplished through a denture made to improve esthetics and function.

• Journal of Chest Surgery
• /
• v.48 no.1
• /
• pp.7-12
• /
• 2015

Background: Mitral regurgitation is one of the leading causes of cardiovascular morbidity in pediatric patients with Marfan syndrome. The purpose of this study was to contribute to determining the appropriate surgical strategy for these patients. Methods: From January 1992 to May 2013, six patients with Marfan syndrome underwent surgery for mitral regurgitation in infancy or early childhood. Results: The median age at the time of surgery was 47 months (range, 3 to 140 months) and the median follow-up period was 3.6 years (range, 1.3 to 15.5 years). Mitral valve repair was performed in two patients and four patients underwent mitral valve replacement with a mechanical prosthesis. There was one reoperation requiring valve replacement for aggravated mitral regurgitation two months after repair. The four patients who underwent mitral valve replacement did not experience any complications related to the prosthetic valve. One late death occurred due to progressive emphysema and tricuspid regurgitation. Conclusion: Although repair can be an option for some patients, it may not be durable in infantile-onset Marfan syndrome patients who require surgical management during infancy or childhood. Mitral valve replacement is a feasible treatment option for these patients.

• Journal of Yeungnam Medical Science
• /
• v.13 no.2
• /
• pp.199-210
• /
• 1996

Infantile hypertrophic pyloric stenosis(IHPS), which occurs three of 1,000 live births, is a major cause of nonbilious vomiting of early infancy but its etiology and pathogenesis are still obscure. The operation of pyloromyotomy as described by Ramstedt in 1912 remains the standard of care for the treatment of IHPS. From January 1993 to October 1996, 35 infants with IHPS were surgically treated and the following results were obtained. 1. Thirty-five patients comprised 32 males and 3 females, and the ratio of male to female was 10.7:1. 2. The most prevalent age group was between 2 weeks and 8 weeks. 3. Of 35 infants, first born babies were 23 cases(65.7%). 4. Breast feeding was in 23 cases(65.7%). 5. The body weight percentile at admission was lower than 50 percentile in all 35 cases. 6. Onset of symptoms was predominantly between 1week and 2 weeks in 11 cases(31.4%). 7. All had a history of nonbilious vomting, generally projectile in nature. 8. In the measured serum electrolytes, hypokalemia was noted in 9 cases(25.7%), hypochloremia was observed in 14 cases(40.0%). 9. In the preoperative ultrasonography, the average muscle thickness, diameter, and length of the pylorus were 6.2mm, 12.1mm, and 17.9mm, respectively. 10. Among 35 cases, significant sonographic criteria of IHPS, muscle thickness of 5mm or more, were noted in 26 cases(83.9%). 11. A total of seven associated anomalies were noted in six patients. 12. All 35 cases were treated with Fredet-Ramstedt pyloromyotomy. 13. There were postoperative complications of wound infection in 2 cases. Intermittent nonprojectile vomiting was presented in 8 cases(22.9%) after operation, but one of them was relieved in 13 days and the rest were relieved within one week by adjustment of oral intake.

• Advances in pediatric surgery
• /
• v.4 no.1
• /
• pp.39-47
• /
• 1998

Infantile hypertrophic pyloric stensosis(IHPS) occurs in three of 1000 live births, and is a major cause of nonbilious vomiting of early infancy. It's etiology and pathogenesis however are still obscure. The operation of pyloromyotomy described by Ramstedt in 1912 remains the standard treatment. From January 1990 to July 1997, 64 infants with IHPS were treated at the Department of Pediatric Sursery, Yeungnam University Hospital. The ratio of male to female was 7:1, and the most prevalent age ranged from 2 weeks to 8 weeks(81.2 %) of age. Fifty-seven infants were first born (57.8 percent). The body weight of all patients at admission was below the 50 percentile. Age of onset of symptoms was between 2 and 4weeks of age in 23 cases(35.9 %). All infants had a history of nonbilious vomting, generally projectile in nature. Hypokalemia was noted in 14 cases(21.9 %) and hypochloremia in 26 cases(40.6 %). In the preoperative ultrasonography, the average muscle thickness, diameter, and length of the pylorus were 6.3 mm, 12.3 mm, and 17.8 mm. A total of 13 associated anomalies were noted in 12 patients. All cases were treated with Fredet-Ramstedt pyloromyotomy. Postoperative wound infection occured in 3 cases. Thirteen cases(20.3 %) presented intermittent nonprojectile vomiting after operation. With control of oral intake vomiting subsided within one week in 63 patients, and in thirteen days in another.