• 제목/요약/키워드: malformation

검색결과 820건 처리시간 0.031초

Malformations of cortical development: genetic mechanisms and diagnostic approach

  • Lee, Jeehun
    • Clinical and Experimental Pediatrics
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    • 제60권1호
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    • pp.1-9
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    • 2017
  • Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development.

Fontan Revision with Y-Graft in a Patient with Unilateral Pulmonary Arteriovenous Malformation

  • Lee, Jeong-woo;Park, Jeong-Jun;Goo, Hyun Woo;Ko, Jae Kon
    • Journal of Chest Surgery
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    • 제50권3호
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    • pp.207-210
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    • 2017
  • The extracardiac conduit Fontan procedure is the last surgical step in the treatment of patients with a functional single ventricle. An acquired pulmonary arteriovenous malformation may appear perioperatively or postoperatively due to an uneven hepatic flow distribution. Here we report a case of a bifurcated Y-graft Fontan operation in a 15-year-old male patient with a unilateral pulmonary arteriovenous malformation after an extracardiac conduit Fontan operation.

A girl with sternal malformation/vascular dysplasia association

  • Lee, Na Yong;Cho, Hye Kyung;Kim, Kyung-Hyo;Park, Eun Ae
    • Clinical and Experimental Pediatrics
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    • 제56권3호
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    • pp.135-138
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    • 2013
  • Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.

Sacrococcygeal Teratoma with Split Spinal Cord Malformation

  • Park, Jong-Tae;Kim, Dae-Won;Kim, Tae-Young;Kim, Jong-Moon
    • Journal of Korean Neurosurgical Society
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    • 제41권1호
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    • pp.57-60
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    • 2007
  • The incidence of diastematomyelia associated with teratoma is extremely rare. We present a case of sacrococcygeal teratoma in a neonate with split spinal cord malformation[SSCM]. Magnetic resonance imaging[MRI] showed a heterogenous mass lesion with cyst in the sacrococcygeal region and multiple spinal anormalies [diastematomyelia, tethered cord, hydromyelia, and hemivertebrae]. The mature teratoma was confirmed on histopathological examination. In SSCMs, the potential for coexisting congenital anomalies at separate levels of the spinal cord must be considered in radiological investigations.

Popliteal Fossa Pain in 24 Year-old Female

  • Choi, Kwan-Woong;Yoon, Kyung-Bong;Yoon, Duck-Mi;Kim, Do-Hyeong
    • The Korean Journal of Pain
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    • 제25권4호
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    • pp.275-277
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    • 2012
  • The pain around the posterior knee, called 'popliteal fossa', has been known to be caused by a variety of disease entities. Venous malformation is a very rare cause of popliteal area pain, and its diagnosis is frequently delayed, missed, or given incorrectly. Here, we report a case of a patient with popliteal fossa pain for 2 years and was diagnosed as intramuscular venous malformation using ultrasound.

Ulnar Nerve Compression at Guyon's Canal by an Arteriovenous Malformation

  • Kim, Sung-Soo;Kim, Jae-Hoon;Kang, Hee-In;Lee, Seung-Jin
    • Journal of Korean Neurosurgical Society
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    • 제45권1호
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    • pp.57-59
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    • 2009
  • Guyon's canal at the wrist is not the common site of ulnar nerve compression. Ganglion, lipoma, anomalous tendon and muscles, trauma related to an occupation, arthritis, and carpal bone fracture can cause ulnar nerve compression at the wrist. However, ulnar nerve compression at Guyon's canal by vascular lesion is rare. Ulnar artery aneurysm, tortous ulnar artery, hemangioma, and thrombosis have been reported in the literature as vascular lesions. The authors experienced a case of ulnar nerve compression at Guyon's canal by an arteriovenous malformation (AVM) and the patient's symptom was improved after surgical resection. We can not easily predict vascular lesion as a cause of ulnar nerve compression at Guyon's canal. However, if there is not obvious etiology, we should consider vascular lesion as another possible etiology.

성인에서 발견된 선천성 낭성 선종양기형 1예 (A Case of Congenital Cystic Adenomatoid Malformation(CCAM) of the Lung in Adult)

  • 조용선;이양덕;한민수;강동욱
    • Tuberculosis and Respiratory Diseases
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    • 제55권1호
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    • pp.107-112
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    • 2003
  • A congenital cystic adenoid malformation of the lung(CCAM) is characterized by an anomalous fetal development of the terminal respiratory structures, resulting in the adenomatoid proliferation of the bronchiolar elements and cystic formation. CCAM has been detected on the fetus, premature babies and stillborn as well as infants and children. An adult presentation of CCAM is extremely rare. When cystic lesions occur with a repeated infection, an evaluation of the cystic lesions requires a differential diagnosis of CCAM, sequestration, a lung abscess, a pneumatocele and a bronchogenic cyst. The definite treatment of CCAM is the surgical removal of the involved lobe. We report a case of a CCAM in a 24-year-old female with a brief review of the relevant literature.

A Case of Widespread Cavernous Malformations of the Central Nervous System Associated with Acute Neurologic Deficit

  • Noh, Kyung Chul;Chung, Sung Eun;Lee, Dokyung
    • Investigative Magnetic Resonance Imaging
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    • 제21권1호
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    • pp.34-37
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    • 2017
  • A 45-year-old female visited our clinic due to sudden right leg weakness and sensory loss. Brain and spinal cord magnetic resonance imaging showed widespread cavernous malformations. Cavernous malformation in L1 spine area was accompanied by a subacute stage hematoma with perilesional edema. Sensory loss subsided after corticosteroid therapy. Usually, neurologic deficit by spinal cavernous malformation appears more chronically in the adults compared to children. Treatment options are difficult to establish in a case with multiple cavernous malformations. Identifying hemorrhagic lesions by extensive neuroimaging evaluation could be helpful to select the treatment target for cavernous malformation.

교통성 폐격리증 -1례 보고- (Communication Bronchopulmonary Malformation)

  • 김종호
    • Journal of Chest Surgery
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    • 제28권12호
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    • pp.1183-1187
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    • 1995
  • We have experienced a case of communicating bronchopulmonary malformation. A 35-year-old female patient was admitted for coughing with sputum. About eight years ago, she had treated for bronchiectasis with medication. Chest computed tomography revealed esophagopulmonary communication with upper esophageal dilatation and bronchiectasis of the left lower lobe. A about 3 mm diameteded abnormal feeding vessel from descending thoracic aorta to the left lower lobe was detected at operation. Division and closure of the communication between the esophagus and left lower lobe was performed. Communicating bronchopulmonary malformation is the rare form of pulmonary sequestion and chest computed tomography is one of the useful diagnostic methods for pulmonary sequestion.

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Intraventricular Cavernous Malformation Radiologically Mimicking Meningioma

  • Jin, Sung-Chul;Ahn, Jae-Sung;Kwun, Byung-Duk;Kwon, Do-Hoon
    • Journal of Korean Neurosurgical Society
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    • 제44권5호
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    • pp.345-347
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    • 2008
  • We report a case of trigonal cavernous malformation (CM) radiologically mimicking meningioma. The computed tomographic (CT) head angiography and magnetic resonance imaging (MRI) showed a partially calcified lesion with slight contrast enhancement located in the area of the left atrium of lateral ventricle. The lesion was completely removed using microsurgery with a parieto-occipital transcortical approach. The resected mass was histologically confirmed as CM. CM should be considered as differential diagnosis in case of the atrial mass lesion due to lack of hemosiderin ring characteristically seen other seated CM.