• Title/Summary/Keyword: diagnostic features

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Neuroleptic Malignant Syndrome in Children and Adolescents : A Review (소아 청소년에서의 신경이완제 악성증후군에 대한 종설)

  • Kwack, Young-Sook;Ryu, Jae-Sung
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.24 no.1
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    • pp.13-20
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    • 2013
  • Neuroleptic malignant syndrome (NMS) is a severe iatrogenic complication of treatment with antipsychotic medication. The aim of this review is to provide the clinical characteristics and treatments of children and adolescents with NMS. Searches were conducted in Medline, Korean studies Information Service System (KISS), and Research Information Service System (RISS). Sixteen case reports and two review articles were selected in Medline, and two Korean cases reported in department of emergency medicine and pediatrics were selected from RISS. Heterogeneous and atypical presentations of NMS were observed in children and adolescents. Some noticeable differences were observed between adult patients and child patients with NMS. In addition, symptom presentations related to atypical antipsychotic agents differed from those of typical ones. In treatment, bromocriptine and benzodiazepine were recommended for management of symptoms. In particular, electroconvulsive therapy (ECT) was a useful treatment option. For prevention and early detection of NMS in children and adolescents, evaluation of risk factors and understanding of diagnostic features of NMS are very important.

Concomitant occurrence of Turner syndrome and growth hormone deficiency

  • Yu, Jung;Shin, Ha Young;Lee, Chong Guk;Kim, Jae Hyun
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.121-124
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    • 2016
  • Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

  • Choi, Yeon-Chul;Yum, Mi-Sun;Kim, Min-Jee;Lee, Yun-Jung;Ko, Tae-Sung
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.152-156
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    • 2016
  • Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.

Recurrent odontogenic keratocyst within the masticatory space (저작근 공간에서 재발된 치성각화낭)

  • Lim, Su-Yeon;Huh, Kyung-Hoe;Yi, Won-Jin;Choi, Hyun-Bae;Choi, Soon-Chul
    • Imaging Science in Dentistry
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    • v.38 no.2
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    • pp.117-120
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    • 2008
  • The odontogenic keratocyst (OKC) is a developmental odontogenic cyst typically occurring in the jaws. Since the first description of OKC was published in 1956, the lesion has been of particular interest because of its specific histopathologic features, high recurrence rate, and aggressive behavior. Recurrences most commonly arise within bone at the site of the original cyst. However, as lining cells may find their way into surrounding tissues either from implantation during surgery or from cortical perforation recurrences may arise at a distance from the original cyst. Here, we report a rare case of recurrent OKC which was first developed in mandible and recurred within the masticatory space.

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Stiff-Person Syndrome: Diagnostic Difficulty (근육 강직 증후군: 진단적 어려움)

  • Lee, Jeong-Kil;Kang, Chan;Kim, Sang-Bum;An, Byung-Kuk;Lee, Gi-Soo
    • Journal of Korean Foot and Ankle Society
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    • v.23 no.3
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    • pp.131-134
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    • 2019
  • Stiff-person syndrome is a rare disorder, and the natural history of the syndrome has not been completely ascertained. The symptoms range from mild to severe and can progress over time: the final result can be significant disability. However, this syndrome is often misdiagnosed due to a lack of understanding of the clinical manifestations. We report the case of a patient who presented with slowly progressing gait disturbance and lower extremity pain and was later diagnosed as suffering from stiff-person syndrome. The patient experienced symptomatic improvement after the administration of benzodiazepines. No recurrence of symptoms has been reported. If the characteristic clinical features and electromyography findings of the syndrome are accurately interpreted, diagnosis of patients with abnormal muscle tension can be effectively done.

Optical Biopsy of Peripheral Nerve Using Confocal Laser Endomicroscopy: A New Tool for Nerve Surgeons?

  • Crowe, Christopher S;Liao, Joseph C;Curtin, Catherine M
    • Archives of Plastic Surgery
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    • v.42 no.5
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    • pp.626-629
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    • 2015
  • Peripheral nerve injuries remain a challenge for reconstructive surgeons with many patients obtaining suboptimal results. Understanding the level of injury is imperative for successful repair. Current methods for distinguishing healthy from damaged nerve are time consuming and possess limited efficacy. Confocal laser endomicroscopy (CLE) is an emerging optical biopsy technology that enables dynamic, high resolution, sub-surface imaging of live tissue. Porcine sciatic nerve was either left undamaged or briefly clamped to simulate injury. Diluted fluorescein was applied topically to the nerve. CLE imaging was performed by direct contact of the probe with nerve tissue. Images representative of both damaged and undamaged nerve fibers were collected and compared to routine H&E histology. Optical biopsy of undamaged nerve revealed bands of longitudinal nerve fibers, distinct from surrounding adipose and connective tissue. When damaged, these bands appear truncated and terminate in blebs of opacity. H&E staining revealed similar features in damaged nerve fibers. These results prompt development of a protocol for imaging peripheral nerves intraoperatively. To this end, improving surgeons' ability to understand the level of injury through real-time imaging will allow for faster and more informed operative decisions than the current standard permits.

Juvenile Dermatomyositis Diagnosed by $^{99m}Tc$-HDP Three-phase Bone Scintigraphy (삼상 뼈스캔으로 진단된 소아기 피부근육염)

  • Kim, Ja-Hye;Song, Ho-Chun;Yoo, Su-Ung;Ha, Jung-Min;Chong, A-Ri;Oh, Jong-Ryool;Min, Jung-Joon;Bom, Hee-Seung;Jeong, Eun-Hui;Lee, Min-Chul
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.6
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    • pp.592-595
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    • 2009
  • Juvenile dermatomyositis is a common inflammatory muscle disease of childhood, characterized by weakness in proximal muscles and specific skin rash. In case of juvenile dermatomyositis without characteristic clinical features, non-invasive imaging tools such as $^{99m}Tc$-HDP three-phase bone scan are very helpful in diagnostic workup of myopathies. We report a case of 13-year old female with juvenile dermatomyositis, in which $^{99m}Tc$-HDP three-phase bone scan was useful in diagnosis and assessing therapy response.

Premenstrual Dysphoric Disorder : A Clinical Review (월경전 불쾌기분 장애에 대한 임상적 고찰)

  • Hwang, Gul
    • Korean Journal of Psychosomatic Medicine
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    • v.15 no.1
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    • pp.14-21
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    • 2007
  • Premenstural dysphoric disorder(PMDD) imposing 4-5% of women is possibly caused by an enhanced responsiveness to the changes of sex steroid hormones and the decrease of serotonin, melatonin and GABA. The common clinical features between PMDD and depression, seasonal affective disorder, panic disorder and anorexia nervosa suggest a relatedness between PMDD and each of them. The diagnostic criteria of DSM-IV-Tr for PMDD requires psychological symptoms, that commonly include irritability, anger, depression, mood swing, affect lability, tension, anxiety, fatigue and food craving. As of today, the best pharmacological treatment for PMDD is the selective serotonin reuptake inhibiter, and leuprolide, danazol, estradiol, spironolactone and bromocriptine are possible alternatives. Nonpharmacological treatments for patients with mild to moderate symptom severity are diet, exercise, light therapy, psychotherapy and keeping a diary.

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Two Cases of Metastatic Cancer Presenting as A Cervical Cyst (경부 낭종의 형태로 발현한 전이암 2례)

  • Son Young-Ik;Baek Chung-Hwan;Ha Byung-Suk;Chang Byung-Chan
    • Korean Journal of Head & Neck Oncology
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    • v.13 no.2
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    • pp.260-264
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    • 1997
  • Metastatic cancer presenting as a cervical cyst is uncommon, and often misdiagnosed as branchial cleft cyst. Authors experienced two cases which presented clinically with features of branchial cleft cyst, but were subsequently found to be metastatic cancer. Radiologic examination and fine needle aspiration biopsy proved to be non-diagnostic, and pathologic findings after surgical excision showed metastatic cancer. Further evaluation and examination were made to find out the primary focus, which revealed tonsillar squamous cell cancer and thyroid papillary cancer in each case. When cervical cysts are noted in aged patients, it is mandatory to rule out metastatic cancer until it is proven otherwise. Surgical excision and pathologic diagnosis should be always accompanied to make correct diagnosis and further treatment.

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Fine Needle Aspiration Cytology of Tumors Metastatic to the Liver - A study on 110 cases - (간의 전이성암의 세침흡인 세포학적 소견 - 110예에 대한 연구 -)

  • Park, Young-Nyun;Hong, Soon-Won;Lee, Kwang-Gil
    • The Korean Journal of Cytopathology
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    • v.2 no.2
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    • pp.79-89
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    • 1991
  • Metastatic tumors occur more frequently in the liver than in any other organ. Guided percutaneous fine-needle aspiration (FNA) of the liver is often recommended for confirmative diagnosis of the metastatic lesion, because of its simplicity, high yield, and reasonable safety. The authors studied retrospectively cytologic findings of 110 cases of metastatic tumors to the liver. The frequent primary sites were the stomach (23 cases), pancreas(19 cases), gallbladder(12 cases), and periampullary lesions(6 cases). Most of the metastases were carcinoma (106 cases). There were only 4 cases of sarcoma. The characteristic cytologic findings of FNA of meatastatic tumors were dirty background, abrupt change between hepatocytes and malignant cells, and desmoplasia. Some tumors displayed rather distinctive cytologic appearance that suggests primary sites. For example, the colonic adenocarcinoma showed tall columnar cells with a palisading arrangement, adenocarcinoma of gallbaldder showed focal squamous differentiation in some cases, and metastatic renal cell carcinoma and neuroblastoma showed also distinctive cytologic findings. Because the cytologic features of metastatic tumor are very similar to those of primary tumor, correct cytologic typing may be helpful in pursuit of an occult primary site of metastatic liver lesions, reducing extensive diagnostic investigation in poor prognostic patients.

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