Neurofibromat osis is a familial discase with widespread manifestations such as lesions of the skin, tumors of the central and peripheral nervous system and abnormalities of bone. The presence of at least two of the following features was considered for diagnostic criteria; positive family history, positive blopsy, a minimum of six cafe-au-lait spots each with a diameter of at least 1.5 cm and multiple subcutaneous nodules. From January 1971 to December 1979, 17 patients of neurofibromatosis and 30 patients of neuro- fibroma treated at Yonsei Medical Center were clinically analized for the study and the results obtained from this study were as follows; 1. Positive family history was obtained In 2 per cent of cases with neurofibromatosis. 2. Cafe-au-lait spots or tumors were the most common findings in neurofibromatosis. The bone changes were presented in 8 patients(45 per cent) and scoliosis has been In 62.5 per cent of them. 3. The location of the neurofibroma was variable. Central nervous sustem was involved in 40.4 per cent and peripheral nervous system in 59.4 per cent. 4. Myelography and determinations of the cerebro-spinal fluid protein concentration led us to a correct diagnosis of the neurofibroma which involved the spinal cord. For the treatment of the neurofibroma, 9 out of 30 patients were performed laminectomies and excision of the intradural masses, and one of them was flxed the spinous processes with a plate and wires after laminectomy for prevent spinal instability. 5. in 3 patients with progressive scoliosis, the best results were obtained with early Harrington instrumentation and posterior fusion.
Cafe-au-Lait Spots ; Chymopapain ; Clinical Study ; Diagnosis ; Fibroma ; Humans ; Laminectomy ; Myelography ; Neurofibroma ; Neurofibromatoses ; Peripheral Nervous System ; Scoliosis ; Skin ; Spinal Cord

A 49-year old man was admitted to the Korea university hospital, department of surgery, for evaluation of anterior neck mass which was slowly growing for five years. His past history was unremarkable except for known hypertension for several years. Physical examination revealed high blood pressure, measuring 180 mmHg in systolic phase and 120 mmHg in diastolic phase. A soft nontender mass was palpated at anterior neck just above the sternal notch with smooth surface and its size was about 4 x 5 cm in cross. On laboratory examination, diabetic evidence such as high blood sugar (FBS 170 mg/dl, PP2hr. 234 mg/dl) and glucosuria. The CBC finding suggested polycythemia with high hemoglobin (18.0 g/dl) and hematocrit (54%) levels. The differential count and platelet count were within normal limits.
Male ; Humans

Ankle injuries include not only disruption of bony architecture of ankle joint but also significant ligamentous and soft tissue injuries as well. Since ligamentous injury frequently has more serious implication than fracture, it is important that be recognized and included in the plan of treatment. The goal of treatment of ankle fracture is the establishment of the normal ankle joint. To obtain the this goal, the fracture should be reduced as accurately as possible (by open or closed), the fracture fragment must be retained in position until healing is secure, ligamentous structure should be repaired when indicated, and joint motion should be restored. The following clinical results shown by analysls of 108 cases of ankle injuries experienced in the Department of Orthopaedic Surgery, Capital Armed Forces General Hospital, from Jan. 1977 to June 1979. 1. The main cause of the injuries was falling from a height and the other causes were direct violence, traffic accident, and injuries in order. 2. All but one of the fractures could be classified in the manner described by Lauge-Hansen and the type of supination-external rotation was most common type in this series. 3. Ninty-two (85.1%) patients were treated by open reduction and internal fixation of both malleoli and sixteen by closed method. 4. The average period of cast immobilization was 8 weeks after closed reduction and that of open reduction was 6 weeks. 5. The good clinical results were achieved in 95 petients and the better results were obtained in fracturers treated in operative interventions.
Accidental Falls ; Accidents, Traffic ; Ankle Fractures ; Ankle Injuries ; Ankle Joint ; Ankle ; Arm ; Clinical Study ; Hospitals, General ; Humans ; Immobilization ; Joints ; Ligaments ; Methods ; Soft Tissue Injuries ; Violence

A fatigue or stress fractures is one in which there is no initial overt break in bone continuity. Rather, there is a gradual alteration in bone architecture as a result of repeated stress. The stresses are submaxmum and usually are the result of unaccustomed activity. If continued, they may eventually result in a complete fracture. Fatigue fractures have been described in almost every bone in the body, but they are more common in the bones of the lower extremities. Fatigue fractures are commonly seen in military personnel, especially at basic training center, and have been noted in athletes, ballet dancers, laborers, and even pregnant women. The following clinical results were shown by analysis of 57 cases of stress fractures experienced in the Department of Orthopaedic Surgery, Capital Armed Forces General Hospital from Jan. 1978 to Sep. 1979. 1. In 57 fatigue tractures in military recruits, 48 were in the tibial shaft and 9 were in the fibula. 2. The main cause of the fatigue fractures was running on hard roads, and the other causes were marching on hard surfaces, playing football, and long jumping. 3. The site of predilection in the tibia was the proximal one third of the shaft, occurring in 35 (72.9%) of the cases. In the fibula the junction of the upper and middle thirds was most frequently affected, occurring in 4 (44.4%) of the cases. 4. Most of the tibial and fibular fatigue fractures were grade I (40 cases among 57), showing periosteal reaction only on one or two cortices. 5. All soldiers were treated by immediate stoppage of physical activity, with no plaster immobilization or non weight bearing.
Arm ; Athletes ; Dancing ; Fatigue ; Female ; Fibula ; Football ; Fractures, Stress ; Hospitals, General ; Humans ; Immobilization ; Lower Extremity ; Military Personnel ; Motor Activity ; Pregnant Women ; Running ; Tibia ; Weight-Bearing

Transient synovitis is characterized by the development of pain arising from the hip and often felt in the thigh or knee in children between the ages of 2 and 12 years. The benign self-limiting nature of this condition has made it difficult to establish the caus'e. However, the condition is generally conceded to be the commonest cause of a painful hip in childhood. The disease is of interest, not because of its disabling condition, but because of the difficulty in differentiating it from more serious diseases of the hip, such as tuberculosis, osteomyelistis, or Legg-Perthes disease. The author had studied the clinical symptoms and signs, roentgenologic findings, and treatment of the 34 patients who had admitted to Severance Hospital Yonsei Medical Center in Seoul, Korea from January 1970 to December 1979, under the diagnosis of the transient synovitis of the hip and summerized the results as follows; 1. There was probably associated with predisposing factors such as infection and allergy. 2. Among the 34 patients, 28 cases(82.4%) were male and 6 cases(17.6%) were female. The most prevalent age were between 6 and 10 years old. 3. Pain and limitation of motion of the hip joint were the most common symptoms. In 56.5% of the patients, roentgenographic findings were positive. In 50% of the patients, the erythrocyte sedimentation rates were increased. 4. The treatment was conservative including bed rest, skin traction on the affected leg, non-weight bearing, antibiotics, and sedatives. Most of all patients had improved symtoms and signs within two weeks of treatment. 5. The course of this condition was short and benign with complete resolution. The occasional hip with chronic or recurrent symptoms could be distinguished from Legg-Perthes disease by the short history, normal radiographs, and the complete resolution.
Anti-Bacterial Agents ; Bed Rest ; Blood Sedimentation ; Causality ; Child ; Clinical Study ; Diagnosis ; Female ; Hip Joint ; Hip ; Humans ; Hypersensitivity ; Hypnotics and Sedatives ; Knee ; Korea ; Leg ; Legg-Calve-Perthes Disease ; Male ; Seoul ; Skin ; Synovitis ; Thigh ; Traction ; Tuberculosis

Lymphangioleiomyomatosis(LAM) is a rare disease of women of child-bearing age in which there is progressive hyperplasia of atypical smooth mucle along lymphatics in the lung, and/or axial lymphatics in the thorax and abdomen, resulting in honeycombing of lung. Interestingly there has been a speculation that it represents a forme furste or incomplete expression of tuberous sclerosis complex. This is based on the observation that patients with tuberous sclerosis can manifest pulmonary lesions indistinguishable from LAM. We report a case of LAM occuring in a 39-year-old female, who complained of recurrent pneumothorax, chest pain and shortness of breath. Three years ago, the patient had right nephrectomy under the diagnosis of ruptured angiomyolipoma. A X-ray film of the chest showed honeycombing with a diffusely reticulonodular pattern and cyst-like spaces. She had a characteristic facial appearance of adenoma sebaceum, which her father and uncle had. Microscopically, the lung showed a marked smooth muscle proliferation around the slit-like lymphatic spaces and also some respiratory bronchioles.
Female ; Humans ; Adenoma

Neurofibromatosis, first clearly described by von Recklinghausen in 1882, is a dominantly inherited mesodermal and ectodermal dysplasia with a broad spectrum of clinical findings. Most common is the classical neurofibromatosis, which has three major features: (1) multiple neural tumors dispersed anywhere on or in the body; (2) numerous pigmented skin lesions, some of which are "cafe au lait" spots; and (3) pigmented iris hamartomas also called Lisch nodules. Other lesions sometimes seen in patients with von Recklinghausen's disease include congenital malformations of various types, vascular lesions, neurilemoma meningioma and other intracranial neoplasms, pheochromocytoma, medullary carcinoma of thyroid gland, neuroblastoma, ganglioneuroma and Wilms' tumor. Approximately 10% of the patients with neurofibromatosis have the gastrointestinal tract tumors as neurofibroma, ganglioneuroma and leiomyoma. Some of them show evidence of malignancy. Increased activity of the protein "nerve growth factor" in the sera of the patients with disseminated neurofibromatosis has been reported. We would like to report here two cases of von Recklinghausen's neurofibromatosis with involvement of the gastrointestinal tract.
Hamartoma ; Meningioma

Osteoblastoma is a rare tumor which forms osteoid and bone with highly vascular stroma, account for less than 1 percent of all bone tumors. The lesion had been thought to be controlled with curettage and locat excision. In recent years, cases of locally aggressive but not metastasizing osteoblastomas have been described as aggressive osteoblastoma or malignant osteoblastoma, separated from the innocuous behavior of usual osteoblastoma. It represents the histologic characteristics of the presence of epithelioid osteoblasts, trabecular rather than lace-like osteoid, low mitotic rate with no atypical form with prominent giant cells of osteoclastic type The differential diagnosis between aggressive osteoblastoma and osteogenic sarcoma is extremely difficult, but its peculiar histologic pattern and ist different clinical and radiologic features and better prognosis are helpful. We report here a case of aggressive osteoblastoma of 17 years old female patient with 2 years and 5 months follow-up period and review the literature.
Female ; Humans ; Diagnosis, Differential

Fabry's disease is a rare hereditary metabolic disease caused by alpha-galactosidase deficiency, resulting in abnormal accumulation of galactosyl galactosyl galactosyl ceramide (ceramide trihexoside) in various organs. Articles in English reported approximately one hundred cases but only two cases in Korea. Recently the authors experienced a case of Fabry's disease of a male patient and studied the electronmicroscopy on skin biopsied tissue and enzyme assay of alpha -galactosidase activity in his peripheral blood leukocytes. The male patient was a 21-year-old soldier who suffered from anhidrosis with heat intolerance and generalized telangietatic papules (Angiokeratoma corporis diffusum) since childhood. Other clinical findings were ocular change, paroxysmal pain of lower extremities and proteinuria with oval fat bodies on urinalysis. The ultrastructural study of skin demonstrated abnormal lysosomal deposits of finger-prints or "zebra" body configuration in the endothelial cells, pericytes, perineural cells and intercalated ductal epithelium of sweat glands. Enzyme activity of alpha-galactosidase was markedly decreased in the peripheral blood leukocytes comparing to the normal control, which was conclusive to make a diagnosis of Fabry's disease.
Child ; Male ; Female ; Humans

Fabry's disease is a rare hereditary metabolic disease caused by alpha-galactosidase deficiency, resulting in abnormal accumulation of galactosyl galactosyl galactosyl ceramide (ceramide trihexoside) in various organs. Articles in English reported approximately one hundred cases but only two cases in Korea. Recently the authors experienced a case of Fabry's disease of a male patient and studied the electronmicroscopy on skin biopsied tissue and enzyme assay of alpha -galactosidase activity in his peripheral blood leukocytes. The male patient was a 21-year-old soldier who suffered from anhidrosis with heat intolerance and generalized telangietatic papules (Angiokeratoma corporis diffusum) since childhood. Other clinical findings were ocular change, paroxysmal pain of lower extremities and proteinuria with oval fat bodies on urinalysis. The ultrastructural study of skin demonstrated abnormal lysosomal deposits of finger-prints or "zebra" body configuration in the endothelial cells, pericytes, perineural cells and intercalated ductal epithelium of sweat glands. Enzyme activity of alpha-galactosidase was markedly decreased in the peripheral blood leukocytes comparing to the normal control, which was conclusive to make a diagnosis of Fabry's disease.
Child ; Male ; Female ; Humans