• The Journal of Pediatrics of Korean Medicine
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• v.15 no.2
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• pp.69-73
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• 2001

The neurofibromatosis (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities. Neurofibromatosis(NF) has been classified into two distinct types: NF-I and NF-II. neurofibromatosis 1(NF-I), also known as von Recklinghausen NF or Peripheral NF, occurring in 1:4,000 births, is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities. Neurofibromatosis 2(NF-II), also known as Bilateral Acoustic NF(BAN), is much rarer occurring in 1:50,000 births. NF-II is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom. We reported a 10-year-old female patient with NF-I, she has pain and edema in left leg, no symptoms of NF.

• Tuberculosis and Respiratory Diseases
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• v.53 no.3
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• pp.319-324
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• 2002

Many disorders and abnormalities are accompanied by cavitary lesoin of the lung and one of the most common causes of cavitary lung disease are primary and metastatic lung neoplasms. but cavitary formation of primary lung cancer is not frequent and cavitary or cystic pulmonary metastases of this is also rare. We report a case of cavitary pulmonry metastases of primary lung cancer proven by bronchoscopic biopsy and chest CT. The patients was 60 year-old heavy smoker who had no known underlying lung diseases 7 years ago and complained chronic cough. The chest CT showed primary lung cancer in right low lobe with multiple cavitary or cystic metastases in both lungs and multiple lymphatic metastases.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.31 no.5
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• pp.429-434
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• 2009

Basal cell nevus syndrome is a rare inherited disorder characterized by mulitple cutaneous basal cell carcinoma, pits of the palms and soles, cysts of the jaws, skeletal abnormalities and ectopic calcifications. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus early allowing an early diagnosis of these patients. We report a case of a 9-year-old boy with the various manifestation of basal cell nevus syndrome, which are multiple odontogenic keratocysts, pits of the soles, bifid ribs, ectopic calcification, macrocephaly, and hypertelorism, etc. Total five odontogenic keratocysts were found. For the reduction of the size of the odon-togenic keratocysts, following preoperative marsupialization, there were surgically enucleated. And the impacted upper right lateral incisor and canine are tracted orthodontically.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.142-146
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• 2021

Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

• Korean Journal of Head & Neck Oncology
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• v.16 no.1
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• pp.87-91
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• 2000

Neurofibromatosis type I or Von Recklinghausen's disease can occur at any site in the body. It is characterized by multiple $c\'{a}fe\;\'{a}u\;l\'{a}it$ spots on the skin-more than six spots greater than 1.5cm-, neurofibromas of the peripheral and centarl nervous system, and variety of other dysplastic abnormalities of the skin, bones, endocrine organs, nervous systems, and blood vessels. It is an autosomal dominant trait disease with a frequency of 1 of 3000. Neurofibromatosis is known to be complicated by malignancies. Neurofibromatosis is progressive disease and shows a marked variations in expression in affected individuals. In this report we describe a male patient with neurofibromatosis type I developed in the parapharyngeal space. The patient had huge mass at left parapharyngeal space and inguinal area. We successfully treated the patient with surgery without complication.

• Journal of Nutrition and Health
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• v.10 no.2
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• pp.5-11
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• 1977

The mature human braun contains over 10 billion nerve cells (neurons), whose functions are directly related to the acquisition, transfer, processing, analysis, and utilization of all the information. There are also billions of glial cells, which serve primarily to support and to maintain the integrity of the neuron network and to synthesize an essential fatty strucfure, myelin. In the human brain DNA content therefore cell number rises rapidly until birth and then more slowly until $5{\sim}6$ months of age, when it reaches a maximum. While glial cells may be replaced, the more important nerve cell neurons can never be replaced once they are formed. Humans are born with their full complement of neurons and every neuron is as old as each individual. Thus prenatal malnutrition can seriously affect a person's entire life by severely inhibiting the production of neurons before birth.It has been demonstrated that in humans severe malnutrition during the fetal period and in infancy is associated with intellectual impairment. Severely malnourished children have brains smaller than average size and have been found to have $15{\sim}20%$ fewer brain cells than wellnourished childen. There is growing body of literature pointing to malnutrition as a cause of abnormal behavior as evidence that suggests these abnormalities may produce chromosomal damage that may persist forever. Although cognitive development in children is affected by multiple environmental factors, nutrition certainly deaerves more attention than it has received.

• Journal of Korean Neurosurgical Society
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• v.56 no.6
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• pp.513-516
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• 2014

We report a case of cervicomedullary compression by an anomalous vertebral artery treated using microsurgical decompression with intraoperative monitoring. A 68-year-old woman presented with posterior neck pain and gait disturbance. MRI revealed multiple abnormalities, including an anomalous vertebral artery that compressed the spinal cord at the cervicomedullary junction. Suboccipital craniectomy with C1 laminectomy was performed. The spinal cord was found to be compressed by the vertebral arteries, which were retracted dorsolaterally. At that time, the somatosensory evoked potential (SSEP) changed. After release of the vertebral artery, the SSEP signal normalized instantly. The vertebral artery was then lifted gently and anchored to the dura. There was no other procedural complication. The patient's symptoms improved. This case demonstrates that intraoperative monitoring may be useful for preventing procedural complications during spinal cord microsurgical decompression.

• Clinical and Experimental Pediatrics
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• v.51 no.4
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• pp.435-438
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• 2008

The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder of the brain and spinal cord caused by a mutation of the DNA repair genes. We report on an 8-month-old girl with COFS syndrome who exhibited growth and developmental delay, hypotonia, microcephaly, nystagmus, cleft palate, widely separated nipples, inguinal hernia, camptodactyly, and rocker-bottom feet with vertical talus.

• Journal of Korean Neurosurgical Society
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• v.30 no.12
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• pp.1417-1421
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• 2001

Objective : The purposes of this study are to compare imaging features with operative findings and to determine significance of imaging studies for early detection of craniosynostosis(CS). Methods : Plain radiograph of skull and three-dimensional(3D) CT reconstruction were analyzed in 10 consecutive patients with CS to assess the presence and the extent of synostosis. The radiological findings were investigated and compared with operative findings. Results : The locations of lesion were coronal suture in 6, sagittal suture in 3 and multiple sutures in one patient, and the age ranged 1 to 53 months(mean age : 17.4 months). Reconstructive procedures with or without advancement of supraorbital rim were performed in coronal CS patients and ${\pi}$-procedures or synostectomy were done in sagittal CS patients. Radi-ological abnormalities such as sutural indistinctness or sclerosis, bony ridge, bossing and other bony deformities were nearly consistent with surgical findings. Conclusion : The interpretation of imaging study are very important for early detection of craniosynostosis, especially, the plain radiographs of skull. Also 3D CT imaging is helpful in diagnosis and surgical planing of craniosynostosis. There are no significant differences between imaging features and operative findings in CS patients.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.