Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.
Primary hyperparathyroidism is still uncommomn disease in Korea. However the frequency of this disease has been slowly increased with routine measurement of serum calcium and increasing awareness of hyperparathyroidism in recent years. The diagnosis is established by a persistent elevation of serum calcium and parathyroid hormone and by clinical evaluation. This is a report of eleven patients with primary hyperparathyroidism treated with surgical operation during a period from 1983 to 1997 at Department of Hospital. Authors analyzed the cases to evaluate clinical characteristics and outcome of surgical treatment retrospectively. The result was as follows. 1) In sex distribution, female patients were eight and three were male, the age distribution ranged from 18 to 67 years. 2) The presenting clinical manifestations were renal and urinary stone in eight, bone pain or fracture in six, muscle weakness in four, neurologic symptoms in four, neck mass in three, hypertension in two, and G-I symptoms in one. 3) All patients showed hypercalcemia and elevated serum parathyroid hormone level. 4) Preoperative localization study was performed with computerized tomography, ultrasonography, MRI, arteriography and thyroid scaning. 5) The tumor locations were left lower in eight, left upper in one, right lower in one, and right upper location was one case. 6) Histopathologic findings disclosed adenoma in all cases. 7) All patients were treated by surgical excision and postoperatively transient hypocalcemia occurred in six patients, but no other complication was developed.
Lee, Sunhee;Park, Yang Mi;Heo, Jun-Young;Jeong, Sung-Hee;Ahn, Yong-Woo;Ok, Soo-Min
Journal of Oral Medicine and Pain
/
v.41
no.1
/
pp.30-33
/
2016
Malignant tumors located in the head and neck areas intermittently show symptoms similar to a temporomandibular disorder (TMD). In our case, a patient who first visited us complaining of TMD-like symptoms, such as trismus and temporomandibular joint (TMJ) pain on the left side, was identified as a sufferer of adenoid cystic carcinoma (ACC) that arose from the left maxillary sinus. The patient may have a TMD symptom, but we are skeptical because the patient also complained of a spontaneously developed numbness on the same side of his upper lip. We observed the panoramic radiograph closely and found the blurred maxillary sinus inferior wall. Dental cone-beam computed tomography confirmed the tentative diagnosis of malignancy on the maxillary sinus. After he had been referred to the Department of Otolaryngology, the diagnosis of the ACC was confirmed. Adequate diagnosis is vital for a quick treatment of the malignancy. There are some keys for differential diagnosis of TMD-like symptoms.
Cha, Teahyen;Choi, Young Jin;Oh, Jae-Won;Kim, Chang-Ryul;Park, Dong Woo;Seol, In Joon;Moon, Jin-Hwa
Clinical and Experimental Pediatrics
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v.62
no.4
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pp.131-137
/
2019
Purpose: Respiratory syncytial virus (RSV) infection can cause various neurological complications. This study aimed to investigate the RSV-associated neurologic manifestations that present with seizures. Methods: We retrospectively reviewed the medical records of patients aged less than 15 years with laboratory-confirmed RSV infections and seizures between January 2011 and December 2016 in a regional hospital in South Korea. Results: During this period, 1,193 patients with laboratory-confirmed RSV infection were identified. Of these, 35 (35 of 1,193, 2.93%; boys, 19; girls, 16; mean age: $20.8{\pm}16.6months$) presented with seizure. Febrile seizure was the most common diagnosis (27 of 35, 77.1%); simple febrile seizures in 13 patients (13 of 27, 48.1%) and complex febrile seizures in 14 (14 of 27, 51.9%). Afebrile seizures without meningitis or encephalopathy were observed in 5 patients (5 of 35, 14.3%), seizures with meningitis in 2 (2 of 35, 5.7%), and seizure with encephalopathy in 1 (1 of 35, 2.9%) patient. Lower respiratory symptoms were not observed in 8 patients. In a patient with encephalopathy, brain diffusion-weighted magnetic resonance imaging revealed transient changes in white matter, suggesting cytotoxic edema as the mechanism underlying encephalopathy. Most patients recovered with general management, and progression to epilepsy was noted in only 1 patient. Conclusion: Although febrile seizures are the most common type of seizure associated with RSV infection, the proportion of patients with complex febrile seizures was higher than that of those with general febrile seizures. Transient cytotoxic edema may be a pathogenic mechanism in RSV-related encephalopathy with seizures.
Kim, Khi Joo;Kim, Ki Hwan;Lee, Taek Jin;Chun, Jin-Kyong;Lyu, Chuhl Joo;Kim, Dong Soo
Clinical and Experimental Pediatrics
/
v.51
no.3
/
pp.299-306
/
2008
Purpose : Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disorder characterized by fever, splenomegaly, pancytopenia, and hemophagocytosis in the bone marrow and other tissues. In this study, we investigated the clinical manifestations and prognostic factors in patients with HLH. Methods : We retrospectively analyzed the data from 29 patients who were diagnosed whit HLH in the Severance Children's Hospital from Jan. 1996 to Feb. 2007. Results : The median age at diagnosis was 3.8 years (range 0.1-12.2). The ratio of male to female patients was 1.1:1. The 5-year overall survival rate was 55.2% with a median follow-up duration of 32 months. In a multivariate analysis, the duration of fever before admission (survival vs. non-survival, 6.5 days vs. 14 days, P=0.010), the interval from the day of fever onset to the day of initiation of etoposide (survival vs. non-survival, 10 days vs. 35 days, P=0.002) and the presence of neurologic symptoms (survival vs. non-survival, 1 case vs. 7 cases, P=0.010) were independent, poor prognostic factors of HLH. EBV infection, gender, and the level of serum ferritin had no relations to the poor prognosis of the disease. Conclusion : This study showed that the presence of neurologic symptoms and a longer duration of fever were related to a poor prognosis. Therefore, if a patient develops neurologic symptoms and the duration of fever is prolonged, a prompt diagnostic approach and aggressive treatment for HLH are necessary.
Objective : Spondylitis is often chemotherapy resistant and requires long-term treatment. Without adequate chemotherapy, the outcome can be fatal or result in severe neurologic damage. Therefore, differentiating the etiology of spondylitis is very important, particularly in spontaneous cases. As the prevalence of tuberculosis in Korea has decreased in recent years, updated clinical research about spondylitis is warranted. Methods : From April 2010 to March 2016, data from spondylitis patients were collected retrospectively. In total, 69 patients (51 with pyogenic spondylitis and 18 with tuberculous spondylitis) were included. Clinical data, laboratory findings including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) level, measurements of Cobb angles at the initial and final follow-up, and radiologic features on magnetic resonance imaging (MRI) scans were evaluated. To test differences between the pyogenic and tuberculous groups, numerical data were compared using the student's t-test and Mann-Whitney U test, and categorical data were compared using the chi-square test and Fisher's exact test. Results : The patients' mean age was 60.0 years. Male sex was slightly predominant (56.5%). There was no difference in mean age and sex between the two groups. The pyogenic group had a relatively higher proportion of immunocompromised patients. The peak CRP value was higher in the pyogenic group than in the tuberculous group (14.08 mg/dL and 8.50 mg/dL, respectively, p=0.009), whereas the ESR was not significantly different between the groups (81.5 mm/h and 75.6 mm/h, respectively, p=0.442). Radiologically, the presence of disc space sparing and vertebral body collapse differed between the groups. In the tuberculous group, the disc was more commonly preserved on contrast-enhanced MRI (50% and 23.5%, respectively, p=0.044), and vertebral body collapse was more common (66.6% and 15.7%, respectively, p<0.001). The mean length of hospitalization was longer in the pyogenic group (56.5 days and 41.2 days, respectively, p=0.001). Four mortality cases were observed only in the pyogenic group. The most commonly isolated microorganism in the pyogenic group was Staphylococcus aureus(S. aureus) (methicillin susceptible S. aureus and methicillin resistant S. aureus [MRSA] in 8 and 4 cases, respectively). Conclusion : The clinical and radiological manifestations of spontaneous spondylitis differ based on the causative organism. Pyogenic spondylitis patients tend to have a higher CRP level and a more severe clinical course, whereas tuberculous spondylitis patients present with destruction of the vertebral body with disc sparing more frequently. The presence of MRSA is increasing in community-acquired spondylitis cases.
Purpose : Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system and mostly develops after viral illness or vaccinations. We investigated the clinical differences and neurologic outcomes according to the distribution of the lesions on brain MRI. Methods : The study group was composed of 21 patients from January 1995 to August 2003 in Kyunghee University hospital. We grouped the patients according to the MRI findings as follows. Group I (14 cases): Multi- or unifocal lesions only in the cerebral white matter. Group II (7 cases): lesions in the gray matter with or without white matter involvement. Results : 1. Preceding events were as follows: no defined prodrome (38.1%), upper respiratory tract infection (28.6%), nonspecific febrile illness (19.0%), gastointestinal disturbance and vaccination. 2. Presenting symptoms were as follows: seizures (76.2%), headache/vomiting (47.6%), altered consciousness (38.1%), hemiparesis, cerebellar ataxia, visual disturbance and facial nerve palsy. 3. Laboratory findings were as follows: CSF pleocytosis (76.2%), leucocytosis (38.1%) and elevated CSF protein (28.6%). 4. Fifteen patients were recovered completely without neurological sequelae. Three patients in group I and 1 patient in group II had intractable seizures. Two patients in group I and 2 patients in group II had motor disturbance. Conclusion : There were no statistically significant differences in preceding events, presenting symptoms, and neurological outcomes according to the distribution of the lesions on brain MRI. However, the ADEM have quite diverse clinical manifestations and neuroimage findings. MRI plays an important role in making diagnosis of the patients who are suspected of ADEM.
Kim, Dong Joon;Lee, Gwang Hoon;Lee, Hyung Won;Kim, Gil Hyun;Lee, Hak Soo
Pediatric Infection and Vaccine
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v.4
no.1
/
pp.79-89
/
1997
Purpose : Neonatal bacterial meningitis is the disease which clinical manifestations are nonspecific and several neurologic complications may occur. We studied neonatal bacterial meningitis, particularly in treatment and prognosis according to causative organisms -gram positive and gram negative bacteria- to assist in treatment of neonatal bacterial meningitis. Methods : We analysed twenty-four cases retrospectively who had been admitted in NICU or pediatric ward in Chung-ang Gil hospital from Jan. 1991 to Jun. 1996, and who had proven causative organisms in culture or latex agglutination[n test in CSF. Results : 1) The ratio of male to female was 2.4: 1. The mean birth weight and gestational age in cases with gram positive bacterial meningitis were $2.91{\pm}0.79kg$ and $38.4{\pm}2.74$ weeks and those in cases with yam negative bacterial meningitis were $3.30{\pm}0.90kg$ and $37.7{\pm}3.33$weeks respectively. There was no significant difference between the two groups. 2) The perinatal predisposing factors were pematurity, mecoinium staining amnionic fluid, matemal diabetes and pregnancy-induced hypertension, etc. The clinical manifestations Were fever, seizure, poor oral intake and fontanel bulging, etc. There were eleven cases with early onset bacterial meningitis(four cases by gram positive bacteria, seven cases by gram negative bacteria), and thirteen cases with late onset bacterial meningitis(seven cases by gram positive bacteria, six cases by gram negative bacteria). There was no significant difference between the two groups in terms of onset. 3) There were eleven cases with yam positive bacterial meningitis and they were coagulase-negative staphylococci(three cases), group B streptococci(three cases), Staphylococcus aureus(two cases), Streptococcus viridans(two cases), and enterococci(one case). And there were thirteen cases with gram negative bacterial menir gitis and they were Escherichia coli(seven cases), Klevsiella pneumoniae(three cases), Pseudomonas aeruginosa(one case), Acinetobactor(one case) and Enterobacter(one case). 4) The initial CSF WBC counts in cases with yam negative bacterial meningitis were significantly higher than those in cases with gram positive bacterial meningitis but the CSF protein and glucose levels were no significant difference in the two groups statistically. 5) The number of cases with abnormal findings in brain ultrasonography was seven in gram positive bacterial meningitis and ten in gram negative bacterial meningitis. 6) There were relatively high sensitivity to penicillin derivatives, the first generation cephalosporin and vancomycin in gram positive bacteria and to the third generation cephalosporin and amikacin in gram negative bacteria. 7) The mortality rate was 20.8%(5 cases were expired or discharged hopelessly). There was no significant difference between the two groups in prognosis. Conclusions : We recommend active treatment in noenatal bacterial meningitis to improve prognosis because the prognosis is poor.
Bang, Jun Suck;Lim, Si Hong;Lee, Kyung Hwa;Bae, Eun Joo;Park, Won Il;Lee, Hong Jin
Clinical and Experimental Pediatrics
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v.49
no.3
/
pp.258-267
/
2006
Purpose : We have done this retrospective study to know the relative incidence and clinical manifestations of organic acidopathies in Korea during 8 years(from Jul. 1997 to May 2005). This results of organic acid analysis of 1,787 patients were compared with the results of organic acid analysis that were published three years ago. Methods : The results of quantitative organic acid analysis of samples of 1788 patients, referred from Jul. 1997 to May 2005, were analyzed retrospectively according to four age group(-2 mon, 3 mon-2 years, 3-12 years) and major clinical manifestations. Quantification of 83 organic acids was done with gas chromatography and mass spectometry. Results : We diagnosed 470 patients with 27 diseases of organic acid metabolism during this study period. Diseases found more than 10 cases are cytosolic 3-ketothiolase deficiency, mitochondrial respiratory chain disorders, PDHC deficiency, mitochondrial 3-ketothiolase deficiency, glutaric aciduria type II, biotinidase deficiency, methylmalonic aciduria and propionic aciduria. Other diseases were diagnosed in less than 10 cases. Conclusion : Though the incidence of individual organic acidemia is low, the overall incidence of organic acidemia as a whole seems to be relatively high in Korea. Compared with the results of organic acid analysis that were reported three years ago, we couldn't find a new disease and the difference of the relative incidences of high incident diseases. We were apprehensive of the errors that was owing to the short study period(3 years), but the relative incidences of our study(8 years) were similar to the results of organic acid analysis that were reported three years ago.
Purpose: This study was to investigate the clinical manifestations of FTT in children. Methods: From March 1997 to July 1999, clinical observations were made on patients with FTT who had visited to Samsung Medical Center. Detailed histories and through physical examinations were taken, and when suspected organic FTT, basic laboratory studies were done. Results: Upon the review of medical records, we investigated the clinical manifestations of 74 children, aged 1 month and 13 year 1 month. The causes of FTT were composed of either physiologic (47.8%) or pathologic (52.2%) ones. Among the physiologic FTT, were there familial short stature (FSS, 14.5%), intrauterine growth retardation (IUGR, 14.5%), constitutional growth delay (CGD, 11.6%), idiosyncrasy and prematurity. Among pathologic causes, neurologic disorders (20%) are the most common causes of FTT, and then follow by GI (13.4%), allergic and infectious disorders in decreasing order. The data showed that average caloric intake in patients with FTT was 76,2% of recommended amount. FTT patients with CGD, IUGR, and idiosyncrasy had tendency to take small foods. The FTT children with prematurity, IUGR and pathologic FTT, were short and thin for their ages. However FTT children with CGD and FSS had tendency to be thin with relatively normal heights for their ages, in comparison with those of the children with prematurity, IUGR and pathologic FTT. Conclusion: The diagnosis of FTT was easily obtained with simple and through medical history, physical examination, and minimal laboratory tests. In this study, organic FTT was more prevalent than physiologic one. This results indicate that early intervention is mandatory, because children may develop significant long-term sequelae from nutritional deficiency.
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