We report a case of successful treatment of congenital syphilis in an extremely preterm baby. A 1,395 g female infant was born by emergency Caesarean section due to preterm labor and breech presentation at gestational age at 29 weeks and 3 days with an Apgar score of 2 and 4 at 1 minute and 5 minutes, respectively. The mother of the newborn, an illegal immigrant who did not receive any antenatal care, was diagnosed as active syphilis infection by reactive rapid plasma regain (RPR) (titer 1:128) just before the delivery. Upon birth, the newborn presented with various clinical manifestations, including severe respiratory distress syndrome, persistent pulmonary hypertension of the newborn, disseminated intravascular coagulopathy, desquamation and scaling of the whole body, and osteolytic changes of long bone ends. Results of laboratory tests showed signs of early congenital syphilis, including positive syphilis reagin test (12.7 R.U.), reactive with RPR titer of 1:64, and positive for immunoglobulin (Ig) M and IgG fluorescent treponemal antibody absorption test. However, after completion of penicillin G treatment for two weeks, laboratory results dramatically improved, showing a negative syphilis reagin test (0.5 R.U.) and non-reactive in RPR. In conclusion, the incidence of congenital syphilis is prone to be resurgent in South Korea, neonatologists should be fully aware of the clinical features of congenital syphilis because early diagnosis and prompt treatment are essential in order to reduce the social and economic burden due to congenital syphilis.
Eosinophilic gastrointestinal disease (EGID), a chronic allergic condition characterized by dense infiltration of eosinophils in the digestive tract, is classified into two types, eosinophilic esophagitis (EoE), which features dense infiltration of eosinophils in the esophageal epithelial layer, and eosinophilic gastroenteritis (EGE), in which the entire digestive tract including the esophagus may be involved. Patients with EoE only have esophageal symptoms, since the other parts of the digestive tract are not involved. On the other hand, 80% of EGE patients have lesions in the small intestine. The esophageal epithelial layer in healthy individuals has no or negligible infiltration by eosinophils, while the small intestinal mucosal layer, especially the distal small intestinal mucosa, can show dense eosinophil infiltration even in the absence of disease. Therefore, histological changes observed in cases of EGE are not qualitative but rather quantitative, as compared to EoE, which has qualitative histopathological changes, indicating important pathogenetic differences between the types. Comparisons of clinical, laboratory, and morphological characteristics between EoE and EGE have revealed several interesting differences. Both EoE and EGE patients are frequently affected by atopic diseases, such as bronchial asthma and allergic rhinitis, and elevated plasma levels of Th2 type cytokines and chemokines are also similarly seen in both. On the other hand, age at diagnosis differs, as the former is generally found in individuals from 30 to 50 years old, while the latter appears in all age groups. Additionally, 80% of patients with EoE are male as compared to only 50% of those with EGE. Furthermore, approximately 60% of patients with EoE respond favorably to proton pump inhibitor (PPI) administration, whereas EGE patients rarely show a response to PPIs. Nevertheless, both diseases show a similarly favorable response to a six foods elimination diet and glucocorticoid administration. These similarities and differences of EoE and EGE provide important clues for understanding the pathogenesis of these EGID types.
Da-young An;Chae-eun Kim;Mi-kyung Kim;Seung-ho Sun
The Journal of Internal Korean Medicine
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v.44
no.6
/
pp.1279-1293
/
2023
A 67-year-old female patient diagnosed with acute transverse myelitis visited our hospital in February 2023. Consultation papers indicated that she was diagnosed with acute transverse myelitis and that she complained of quadriparesis and numbness in both hands and feet. However, her spine magnetic resonance imaging (MRI) did not clearly indicate that she suffered from acute transverse myelitis. She was then sent to a high-level hospital and diagnosed with Guillain-Barre Syndrome through electromyography, cerebrospinal fluid test, and spine MRI. On March 2023, she visited our hospital again, still complaining about weakness in both hands and inability to walk. She was treated with Korean medicine, including acupuncture, electroacupuncture, pharmacopuncture, and herbal medicine such as Yanggyeoksanhwatang and Sipimijihwang-tanggami. After three months, she was discharged on cane walking. The manual muscle test (MMT) grade of her upper limbs increased from 3-/3-/3-/3- (shoulder/elbow/wrist/fingers) to 4/4/4/3+, and the MMT grade of her lower limbs increased from 2/2/2/2 (pelvis/knee/ankle/feet) to 4/4/4-/4-. Her numbness in both feet disappeared, and her numbness in both hands decreased from a numeric rating scale of 7 to 2. No adverse events were reported during treatment. This case implies the therapeutic potential of Korean medicine for Guillain-Barre Syndrome, especially for those who had delayed diagnosis and missed the opportunity to get plasma exchange.
Kim, Jinsup;Yang, Misun;Yang, Aram;Cho, Eun Hye;Park, Hyung-Doo;Sohn, Young Bae;Cho, Sung Yoon;Jin, Dong-Kyu
Journal of The Korean Society of Inherited Metabolic disease
/
v.17
no.3
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pp.85-91
/
2017
Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.
Park Jee-Min;Shin Jae-Il;Kim Pyung-Kil;Lee Jae-Seung
Childhood Kidney Diseases
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v.6
no.2
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pp.155-168
/
2002
Purpose; Systemic lupus erythematosus(SLE) is an autoimmune disease with multi-system involvement and renal damage is a major cause of morbidity and mortality in children. Renal involvement is more common and severe in children than in adults. Therefore, renal biopsy plays a crucial role in planning effective therapy. In this study, we investigated the clinical and pathological findings of lupus nephritis in children to aid clinical care of the disease. Methods: The clinical and pathological data of 40 patients who were diagnosed as SLE with renal involvement in Shinchon Severance Hospital from Jan. 1990 to Sep. 2002 were analyzed retrospectively. Results: The ratio of male to female patients was 1:3 and the median age at diagnosis was 12.1(2-18) years old. FANA(95.0%), anti-ds DNA antibody(87.5%), malar rash(80.0%) were the most common findings among the classification criteria by ARA. Microscopic hematuria with proteinuria(75.0%), nephrotic syndrome(55.0%), and microscopic hematuria alone(15.0%) were the most common renal presentations in the respective order at diagnosis. There were 27 cases with WHO class IV lupus nephritis confirmed by renal biopsy and 3 cases with pathological changes of WHO class type. Different treatment modalities were carried out : prednisolone only in 5 cases, prednisol-one+azat-hioprine in 9 cases, prednisolone+azathioprine+intravenous cyclophosphamide in 14 cases, prednisolone+cyclosporine A+intravenous cyclophosphamide in 12 cases, plasma exchange in 9 cases and intravenous gamma-globulin in 2 cases. The average follow-up period was $51.8{\pm}40.5$ months. During $51.8{\pm}40.5$ months. During follow-up, 4 patients expired. The risk factors associated with mortality were male, WHO class IV and acute renal failure at diagnosis. Conclusion: Renal involvement was noted in 63.5% of childhood SLE, and 67.5% of renal lesion was WHO class IV lupus nephritis which is known to be associated with a poor prognosis. Therefore aggressive treatment employing immunosuppressant during the early stages of disease could be helpful in improving long-term prognosis. But careful attention should be given to optimize the treatment due to unique problems associated with growth, psychosocial development and gonadal toxicity, especially in children.
Yoon, Jae Ho;Yeo, Chang Dong;Shin, Eun Joong;Song, So Hyang;Kim, Chi Hong;Moon, Hwa Sik;Song, Jeong Sup;Park, Sung Hak
Tuberculosis and Respiratory Diseases
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v.61
no.3
/
pp.294-298
/
2006
Lymphocytic interstitial pneumonia(LIP) is an uncommon condition in which the alveolar septa and extra-alveolar interstitial space are markedly expanded by small lymphocytes, plasma cells and histiocytes. Chest radiographs generally show nonspecific patterns with the most common pattern showing bibasilar reticular or reticulonodular infiltrates. Hilar or mediastinal lymphadenopathy and pleural effusions are usually absent. We encountered a 42-year-old female patient who was admitted to hospital because of exertional dyspnea and palpitation. The chest X-ray showed an enlarged bilateral hilar shadow and diffusely increased bronchovascular markings in both lung fields. The chest CT showed diffuse nodular infiltrations with mild septal thickening and combined patchy ground glass opacity in both lungs, and conglomerated mediastinal and bilateral hilar lymphadenopathy. A diagnosis of LIP was made from the tissue pathology taken by a thoracoscopic lung biopsy. The patient showed clinical and radiographic improvement after 3 months of treatment with prednisolone. We report a case of LIP presenting as diffuse nodular interstitial infiltrations with multiple mediastinal and bilateral hilar lymphadenopathy.
Heo, Ju Sun;Choi, Ka Young;Sohn, Se Hyoung;Kim, Curie;Kim, Yoon Joo;Shin, Seung Han;Lee, Jae Myung;Lee, Juyoung;Sohn, Jin A;Lim, Byung Chan;Lee, Jin A;Choi, Chang Won;Kim, Ee-Kyung;Kim, Han-Suk;Kim, Beyong Il;Choi, Jung-Hwan
Clinical and Experimental Pediatrics
/
v.55
no.11
/
pp.438-444
/
2012
Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at $37^{+1}$ weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of ${\beta}$-D-hexosaminidase and ${\alpha}$-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.
Metabolic syndrome, defined as the clustering of several metabolic disorders including obesity (waist circumference ${\geq}90$ if male or ${\geq}80$ if female, cm), dyslipidemia ($TG{\geq}150$ or HDL-C<40 if male or <50 if female, mg/dl), hypertension ($BP{\geq}130/85mmHg$) and hyperglycemia (fasting plasma $glucose{\geq}110mg/dl$), increases the cardiovascular risk of the general population. Recently, risk of this syndrome arises in young adults world widely. Therefore, we randomly selected and evaluated the risk of metabolic syndrome of total 43 people (group I-22, group II-21) for 2 years. Group I was 22 peoples (15 males, 7 females) with age of 22 thru 35 year old (average 28 year old) and group II was 21 people (19 male, 2 female) with age of 22 thur 32 years old (average 24 year old) in Cheongju area from March 1st thru 30th of 2008 in Cheongju area from September 1st thru 30th of 2007 in order to find out how serious this phenomenon is in young adult of Korea. 13.95% (n=7) of total people has a metabolic syndrome by NCEP/ATPIII definition among this group (group I-6, group II-1). Those of 6 have 3 or over risk factor for metabolic syndrome such as obesity, hypertension, fasting blood glucose and hypetriglyceridemia at the same time (group I-5, group II-1). Group I have more risk factor because of more higher age than group II. Therefore we need aggressively to monitor and provide them for early diagnosis, educational programs and assistance for lifestyle changes in order to prevent metabolic syndrome among young adults.
Kim, Kyung-Ran;Kim, Jinsup;Huh, Rim;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
Journal of The Korean Society of Inherited Metabolic disease
/
v.16
no.1
/
pp.47-51
/
2016
Propionic acidemia (PA) is an autosomal recessively inherited disorder of the organic acid metabolism. It is caused by a deficiency of propionyl-CoA carboxylase (PCC). PCC is a heteropolymeric enzyme composed of ${\alpha}$- and ${\beta}$-subunits. The clinical symptoms of PA are heterogeneous and present vomiting, dehydration, hypotonia, and lethargy, and it can result in death. The typical presentations of neonatal onset PA are life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of neonatal onset PA with mild clinical presentations. She was born to a healthy mother without complications. No significant illness was observed until nine days after birth. She started exhibiting poor oral feeding, vomiting, lethargy, and hypotonia at ten days old. Her laboratory results showed mild hyperammonemia and acidosis. The initial diagnosis was neonatal sepsis and she was treated with antibiotics. However, her clinical symptoms didn't improve. So we considered a metabolic disease. She was given nothing by mouth and intravenous hydration and nutrition support was performed. Propionylglycine and 3-hydroxypropionic acid were showed high concentrations in urine by gas chromatograph mass spectrometry (GC-MS). C3 level of acylcarnitine analysis elevated 10.4 uM/L (range, 0.200-5.00) in plasma. We took gene analysis for PA to be based on the symptoms and laboratory results. We detected PCCB gene mutation and diagnosed PA. She survived without severe neurologic defects and complications and was hospitalized only three times with upper respiratory tract infections for 7 years. We report a case of a ten days old neonate with PA presenting without severe metabolic acidosis and hyperammonemia who was effectively treated with early aggressive care and conventional methods.
Park, Se Jin;Moon, Won Jin;Kim, Wan Seop;Kim, Kyo Sun
Clinical and Experimental Pediatrics
/
v.52
no.5
/
pp.622-626
/
2009
Kikuchi-Fujimoto disease was initially described as a self-limiting histiocytic necrotizing lymphadenitis in Japan in 1972, and is predominantly observed in women under the age of 30 year and in Asian populations. The pathogenesis is still poorly understood but is thought to include infections, and autoimmune and neoplastic diseases. The most common clinical manifestations are fever and painless cervical lymphadenitis. Diagnosis is based on the histopathological findings, characterized by focal necrosis in the paracortical region with abundant karyorrhexis, aggregates of atypical mononuclear cells around the zone of necrosis, absence of neutrophils and plasma cells, and usually intact lymph node capsule. There is no specific therapy for the condition, and aseptic meningitis can occur as one of the complications. Here, we report the case of a patient with Kikuchi-Fujimoto disease accompanied with aseptic meningitis, which may be confused as a case of tuberculous meningitis and lymphadenitis.
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