Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome

No abstract available.

Isolated Myxoma in the External Auditory Canal: A Case Report

Myxoma is a benign mesenchymal neoplasm found in the heart, bone, and other soft tissues. However, myxoma of the external auditory canal is extremely rare. Since myxoma of the external auditory canal can be manifested as a part of the Carney complex, an autosomal dominant multiple familial neoplastic disorder, correct diagnosis and thorough investigation is important. We report a case of a 59-year-old man who presented to hospital with a complaint of growing mass within the right external auditory canal during one month. The surgical excision was done, and the histopathological examination revealed myxoma. In this article, we report the magnetic resonance imaging and computed tomography findings of the myxoma of the external auditory canal and correlate with the histopathological finding.

Relationship of Shape of Macrocalcification and Thyroid Cancer: Correlation with US and Pathologic Findings

PURPOSE: The purpose of this study was to categorize macrocalcifications into several subtypes by the US findings and to determine which type of macrocalcification in a thyroid nodule is associated with thyroid malignancy. MATERIALS AND METHODS: We retrospectively analyzed the macrocalcification patterns of thyroid nodules in 396 patients that underwent ultrasonography (US)-guided thyroid FNA or surgery in our institution between August 2009 and August 2011. Two radiologists evaluated US findings and categorized macrocalcifications into 5 subtyes : (A) solitary macrocalcification no association with thyroid nodule; (B) nodular macrocalcification(s) within indeterminate thyroid nodule; (C) dense macrocalcification without ability to interpret internal content by its posterior acoustic shadowing; (D) irregular-shaped macrocalcification(s); (E) macrocalcification with other suspicious malignant US finding(s). A chi-squared test and a Fisher exact test were used for comparison of categoric variables. The diagnostic sensitivity, specificity, positive and negative predictive values (PPV and NPV) were obtained. RESULTS: Among total of 417 nodules, 114 (27.3%) were suspicious malignancy or malignancy on histopathological result. Macrocalcification with other malignant US feature had the highest incidence of malignancy (77.5%), followed by irregular-shaped macrocalcification(s) (43.9%), and dense macrocalcification without ability to interpret internal content by its posterior acoustic shadowing (38.5%), solitary macrocalcification no association with thyroid nodule (8.3%) respectively, and nodular macrocalcification(s) with indeterminate thyroid nodule had the lowest incidence (7.5%). A nodule with macrocalcification with other malignant US finding(s) has the highest odds ratio (42.52), followed by a nodule with irregular-shaped macrocalcification(s) (9.65) and dense macrocalcification (7.72). Leaving macrocalcification with compositive malignant findings aside, irregular-shaped macrocalcification is more likely to be associated with increased risk for malignancy compared with other patterns of macrocalcification. CONCLUSIONS: Irregular-shaped macrocalcification is a fine indicator for differentiation between benign and malignant thyroid nodules on ultrasonography.

Risk Factors and Prognosis for Periventricular Leukomalacia According to Neuroimage in Preterm Infants

PURPOSE: The aim of this study was to determine the risk factors, clinical characteristics and prognosis for the development of periventricular leukomalacia (PVL) in preterm infants according to the extent and site of the PVL. METHODS: The medical records of infants (under 36 weeks of gestational age) delivered from January 1999 to December 2008 were reviewed. Twenty-five preterm infants with were PVL were diagnosed by brain magnetic resonance imaging (MRI) and an addition 50 preterm infants with no brain lesions were enrolled in this study. The perinatal and neonatal risk factors for the development of PVL was determine in these infants. Mental and Psychomotor Developmental Indices (MDI, PDI) were assessed by a clinical psychologist using the Bayley Scales of Infant Development II. We compared the differences of the clinical characteristics and prognosis according to brain MRI findings. RESULTS: Maternal fever, young maternal age, extended oxygen use, hypotension within the first week of birth, use of inotropics within the first week of birth, and respiratory distress syndrome were the risk factors associated with PVL (P<0.05). In the multivariate analysis, maternal fever and extended oxygen use were statistically significant independent risk factors (P<0.05). The mean MDI and PDI scores of the PVL group (74.4+/-27.8 and 58.0+/-17.7) were significantly lower than those of the control group (103.5+/-8.9 and 101.7+/-16.1, P<0.05). CONCLUSION: Maternal fever and extended oxygen use were independent risk factors for PVL. We should pay attention to infants who had the risk factors and follow them up closely by brain imaging study and Bayley Scales of Infant Development II.

Sonographic Findings of Variable Chest Wall Disorders

Variable chest wall disorders include hemorrhage, inflammation and a tumor on the chest wall. Especially in females, abnormal anterior chest wall findings can appear as breast lesions due to the anatomic relationship between the chest wall and the breast. Sonography is the first diagnostic tool to utilize for chest wall disorders and has an important role for the differential diagnosis. In this study, we introduce sonographic findings of the various chest wall disorders that are discovered incidentally during an examination for a palpable mass or pain in the breast. We also describe sonographic findings that additionally performed of sonography-guided core needle biopsy.

A Case Report of Intramuscular Myxoma in the Paraspinal Space

Myxomas are benign mesenchymal neoplasms composed of undifferentiated stellate cells in the myxoid stroma and can affect the heart, subcutaneous tissues, bone and skin. Myxomas arising from muscle tissue are called intramuscular myxomas, and account for 17% of all myxomas. Intramuscular myxomas are most commonly located in the large muscles of the thigh, shoulder, and buttocks.However, intramuscular myxomas of the head and neck region are rarely reported. In this study, we report a case of intramuscular myxoma arising from the paraspinal space of the head and neck region.

Radiological Findings of Pilomatricoma: Case Report

Pilomatricoma is a rare benign neoplasm arising from the outer sheath of hair follicles. A firm, freely movable, and well-circumscribed subcutaneous nodule is a characteristic clinical feature of pilomatricoma. Diagnosis is usually based on clinical features, and surgical excision is performed without the use of imaging. Radiological evaluation has been used primarily as a means for differentiating pilomatricoma from other tumors or inflammatory conditions and also for examining unusually large or aggressive tumors. As a result it is important to be familiar with radiological characteristics of pilomatricoma. In this report, three cases of pilomatricoma from a pool of 28 pathologically confirmed cases are examined. Characteristic radiological findings of pilomatricoma are well-defined, oval shaped subcutaneous nodules adherent to the overlying skin with various amounts of calcification on plain radiography, CT scan, and ultrasound.

Clinical Usefulness of Diffusion-weighted MRI in Various Stages of Ischemic Stroke

PURPOSE: Diffusion-weighted MRI (DWI) is well known to be sensitive in the detection of hyperacute infarct, but has not been systematically investigated in patients with acute or subacute infarct. We evaluated the usefulness of diffusion-weighted MRI in assessing the various stages of brain infarct. MATERIALS AND METHODS: Fifty-five consecutive patients with symptoms of brain infarct underwent fast spinecho T2-weighted MRI (T2W1) and DWI. Using only a brief clinical history, two radiologists first attemptelto detect the lesion using T2W1, which was then compared with DWI. The usefulness of the latter was then evaluated in terms of the following criteria: 1) Its abilility to detect a lesion not seen at T2WI (detection); 2) localization of the responsible ischemic focus among multiple high-signal intensities seen at T2WI (localization); 3) conspicuity of a lesion which was subtle at T2WI (conspicuity); 4) detection of multiple lesions (multiplicity). RESULTS: DWI was useful in 44 of 55 patients (80%), including 9 of 9 (100%) with hyperacute infarct (<6 hours), 20 of 27 (74%) with acute infarct (<48 hours), and 15 of 19 (79%) with subacute infarct (<2 weeks). Among the nine patients at the hyperacute stage, DWI was useful for detection of the lesion in six (67%), for localization, 4 (44%) in one (11%), for conspicuity in four (44%), and for multiplicity in five (56%); at the acute stage (20 patients), for detection in three (15%), for localization in ten (50%), for conspicuity in eight (40%), and for moltiplicity in five (25%); and at the subacute stage (15 patients), for detection in three (20%), for localization in nine (60%), for conspicuity in two (13%), and for multiplicity in three (20%). CONCLUSION: DWI is very sensitive for the diagnosis of hyperacute infarct. In the assessment of this, it is useful during the acute or subacute period for the detection of small lesions, the localization of ongoing lesions among multiple high signal intensities seen at T2WI, and the determination of lesion conspicuity.

Hyperostosis of the Maxillary Sinus Wall in Aspergillosis: Is it a Characteristic Finding?

PURPOSE: To determine whether the wall thickening of the maxillary sinus is a characteristic finding in aspergillosis. MATERIALS AND METHODS: In 103 patients, including 26 with aspergillosis, 21 with inverted papilloma (IP), and 56 with unilateral chronic sinusitis, the thickness of the maxillary sinus wall was determined by CT scanning. All cases were proven pathologically, and patients with a history of previous surgery or bone destruction were excluded. Two neuroradiologists retrospectively reviewed the CT scans using bone window settings for sinus wall hyperostosis and the presence of intrasinus calcification. Thickening of the maxillary sinus wall was assessed visually in a semiquantitative manner, and graded as 'none'(absence of thickening), 'mild'(thickening of up to 1.5 times), or moderate to severe(over 1.5 times thicker than normal contralateral sinus wall at its thickest point). RESULTS: Moderate to severe wall thickening was found only in patients with aspergillosis (21/26, 80.8%). Mild wall thickening was seen in two patients with aspergillosis (2/26, 7.7%), in 12 of 21 with IP (57.1%), and in 5 of 56 with chronic maxillary sinusitis (8.9%). Most cases of chronic maxillary sinusits (51/56, 91.1%), 9/21 IP cases (42.9%), and 3/26 cases of aspergillosis (11.5%) showed no thickening of the maxillary sinus wall. Calcifications were found in 18 patients with aspergillosis (69.2%), in no patient with IP (0%), and in one with chronic maxillary sinusitis (1.8%). CONCLUSION: We suggest that 'moderate to severe' wall thickening of the maxillary sinus is the characteristic finding of aspergillosis. Although various sinonasal diseases can cause bone change, CT findings of hyperostosis of the maxillary sinus and intrasinus calcification are very helpful in differentiating fungal sinusitis from other types of chronic inflammatory lesions.

Unusual Acute Encephalitis Involving the Thalamus: Imaging Features

OBJECTIVE: To describe the brain CT and MR imaging findings of unusual acute encephalitis involving the thalamus. MATERIALS AND METHODS: We retrospectively reviewed the medical records and CT and/or MR imaging findings of six patients with acute encephalitis involving the thalamus. CT (n=6) and MR imaging (n=6) were performed during the acute and/or convalescent stage of the illness. RESULTS: Brain CT showed brain swelling (n=2), low attenuation of both thalami (n=1) or normal findings (n=3). Initial MR imaging indicated that in all patients the thalamus was involved either bilaterally (n=5) or unilaterally (n=1). Lesions were also present in the midbrain (n=5), medial temporal lobe (n=4), pons (n=3), both hippocampi (n=3) the insular cortex (n=2), medulla (n=2), lateral temporal lobe cortex (n=1), both cingulate gyri (n=1), both basal ganglia (n=1), and the left hemispheric cortex (n=1). CONCLUSION: These CT or MR imaging findings of acute encephalitis of unknown etiology were similar to a combination of those of Japanese encephalitis and herpes simplex encephalitis. In order to document the specific causative agents which lead to the appearance of these imaging features, further investigation is required.

A Case of Subacute Sclerosing Panencephalitis / 대한소아신경학회지

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory disease of the central nervous system (CNS) caused by a persistent, aberrant measles virus infection. The outcome is usually fatal. After a latent period of 6 to 7 years, there is subtle and slow cognitive decline and visuospatial disorientation develops followed by myoclonic jerks, extrapyramidal symptoms, ataxia, and seizures, progressing to coma or vegetative state. The diagnosis is based on at least three of the following criteria 1) clinical manifestations 2) abnormal EEG 3) hyperglobulinorrachia, elevated serum or spinal fluid measles antibody 4) histologic features. No therapeutic maneuver has been proven conclusively to be of value. We have diagnosed and experienced a case of subacute sclerosing panencephalitis (SSPE) in a 5-year-old child with the chief complaint of myoclonic seizure and mental deterioration. We report a case and the brief review of related literature.

CT-guided Percutaneous Biopsy of the Spine: Transpedicular approach

PURPOSE: To evaluate the efficiency of CT-guided transpedicular biopsy in obtaining diagnostic tissue fromvertebral body lesion. MATERIALS AND METHODS: The authors evaluated 25 patients(27 cases) who underwent CT-guidedtranspedicular biopsy for thoracic and lumbar vertebral lesions. Specimens were obtained from 27 lesions, sevenfrom thoracic spine and others from lumbar spine. Nine patients were men and 16 were women ; their ages rangedfrom 20 to 80 years. A 17-gauge "Osty-Cut" bone biopsy needle(Angiomed) with a hand-grip was used, and the patientwas placed in the prone position. For the analysis of results, pathologic reports were reviewed and follow-upstudies were checked. RESULTS: In all patients, the biopsy needle could be passed under CT guidance through thepedicle to the site of the disease. Pathologic reports indicated 11 malignancies, 11 normal trabecular bones andtwo cases of infectious spondylitis. Three cases were not diagnosed because of insufficient biopsy specimen. Eightcases of normal trabecular bone described in pathologic reports were confirmed by follow-up study. There were nocomplications during and after biopsy, and for pathologic diagnosis this was successful in 24 of 27 cases(88.9%). CONCLUSION: CT-guided transpedicular biopsy of vertebral lesion was safe and efficacious, especially in cases inwhich the posterolateral approach was difficult.

Desmoplastic Cerebral Astrocytoma of Infancy: A Case Report

Desmoplastic cerebral astrocytoma of infancy is a rare neoplasm with distinctive clinical and radiographicfeatures. Almost all cases present in the first two years of life as a large, supratentorial, enhancing mass witha peripheral dural-based solid component and a central cystic component. After complete surgical excision, thecourse of this tumor is benign, and adjuvant chemotherapy or radiation therapy may not be required. We describethe case of a 9-month-old boy with a desmoplastic cerebral astrocytoma of infancy and review the associatedliterature.

Hibernoma of Lower Chest Wall, Left: One Case Report / 대한흉부외과학회지

Hibernoma is a rare, benign soft tissue tumor that is derived from the remnants of fetal brown tissue. The term hibernoma was proposed in 1914 by Cery because of its morphologic similarity to the cel s of the so-called hibernating gland of animals. The most common site of hibernomas is the subcutaneous tissue of the back, especially the interscapular area. These tumors are considered benign and malignant transformation has not been reported. We experienced a case of hibernoma, 60-year-old woman had suffered from the palpable mass without pain or tenderness on posterolateral lower chest wall, left. The tumor was extirpated under the impression of angiolipoma, but was confirmed hibernoma. She was discharged without complication.

CT Findings of Inverted Papilloma and Aspergiollosis in Sinonasal Cavities: CT differentiation

PURPOSE: To describe the characteristic CT findings of inverted papilloma (IP) and aspergillosis involving sinonasal cavities and to differentiate between them on CT. MATERIALS AND METHODS: We retrospectively reviewed CT images in 22 cases of pathologically confirmed IP and 16 of aspergillosis; these were classified as one of four types, according to location. We also analyzed infundibular widening, displacement of the maxillary medial wall, the presence of air in the maxillary ostium, elevation of ethmoidom axillary plate (EMP), calcification within a lesion, reactive hyperostosis and CT density. RESULTS: Four cases were type I, which was seen only in aspergillosis (4/16, 25%); five were type IV, and all were IP (5/22, 22.7%), with a characteristic growing vector. Type II was seen in nine cases of IP and 11 of aspergillosis, and type III in eight cases of IP and one of aspergillosis. In types II and III (17 of 22 cases of IP; 12 of 16 of aspergillosis), five of 22 cases of IP (22.7%) and nine of 16 of aspergillosis (56.3%) showed infundibular widening, which was more severe in aspergillosis. Maxillary medial wall displacement was seen in five of 22 cases (22.7%) of IP, four of which showed lateral displacement and in five of 16 cases (31.3%) of aspergillosis, all of which showed medial displacement. Air in the maxillary ostium was seen in seven of 22 cases of IP (31.8%). Elevation of EMP was seen in two cases of IP (9.1%) and three of aspergillosis (18.8%), which showed oblique elevation. Calcification was detected in nine cases of aspergillosis (56.3%) but in only one of IP. Reactive hyperostosis was seen in 13 cases of aspergillosis (81.3%) and two of IP (9.1%). CONCLUSION: Although it is hard to differentiate between IP and aspergillosis involving sinonasal cavities, the findings of calcification, infundibular widening, air in the maxillary ostium,displacement of the maxillary medial wall, an elevated EMP pattern and reactive hyperostosis combined with duration of symptom may be helpful.

A Case of Joubert Syndrome / 대한소아신경학회지

Joubert syndrome is a rare hereditary brain malformation and transmitted as an autosomal recessive tarit. This disorder is clinically characterized by episodic tachypnea and apnea, abnormal ocular movements, developmental delay and ataxia. Anatomic anomalies include cerebellar vermal agenesis with dilatation of the fourth ventricle. Symptomatic onset is in the neonatal period and prognosis is severe. We have experienced a case of Joubert syndrome in a 3months old male patient, who manifested by developmental delay, periodic tachypnea and apnea, abnormal eye movement, generalized hypotonia and hypoplasia of cerebellar vermis with the 4th ventricular dilatation on brain MRI. We presented this case with a brief review of literatures.

Usefulness of Spiral CT in Parametrial Invasion of Cervical Carcinoma

PURPOSE: To evaluate the efficacy of the arterial phase of spiral CT in parametrial invasion of uterine cervical carcinoma. MATERIALS AND METHODS: Two-phase spiral CT images of 22 patients with pathologically proven cervical carcinomas were retrospectively, studied. With regard to the lateral margin of the cervix, eccentric parametrial soft tissue, Parametrial strands and obliteration of periureteral fat, images of the arterial phase were compared by three radiologists with those of the late phase. RESULTS: Five of 15 surgically-proven cervical cancers with no parametrial involvement (33%) showed parametrial strands or eccentric soft tissue lesion in the late phase. Four of the five patients (80%) showed early vascular enhancement of the linear strands or eccentric soft tissue mass in the arterial, phase and because of this additional scan, correct diagnosis was possible. Six of seven cases of invasive cervical cancer (85.7%) showed linear strands in the late phase but two patients showed partial vascular enhancement of the parametrial strands and correct diagnosis was therefore possible. For the evaluation of the lateral margin of the cervix (4/7, 57.1%) and periureteral fat obliteration (3/7, 42.9%), images of the late phase were superior to those of the arterial phase. CONCLUSION: In uterine cervical carcinoma, the late phase of conventional CT is normally used to identify vascular structures as false-positive parametrial strands ; the arterial phase of spiral CT is, however, superior.

An Experimental Study on Mixing of Chemoembolic Material for Hepatocellular Carcinoma

PURPOSE: The chemoembolization with Lipiodol and doxorubicin hydrochloride is used in patients with hepatocellular carcinoma. What condition is the ideal emulsion of Lipiodol and doxorubicin for excellent anticancer effect? METHOD AND MATERIALS: Microscopic evaluation was performed on the emulsions, which were varied with different specific gravities of doxorubicin solutions, degrees in mixing of the emulsion, and amount of Lipiodol. RESULT: 1. Maximal amount of doxorubicin solution was contained in Lipiodol droplets and the release of doxorubicin from the droplets were delayed, when specific gravity of doxorubicin was equal to that of Lipiodol (SG, 1.28). 2. The optimal therapertic ratio of Lipiodol and doxorubicin was 3:2 at least, as in the emulsion less than 3:2, unmixed free forms of doxorubicin solution were increased. 3. The emulsion mixed by pumping 50--100 times had smaller Lipiodol droplets and contained larger amount of doxorubicin solution in the droplets than by pumping 20 times. CONCLUSION: We recommend the emulsion with specific gravity of doxorubicin equal to Lipiodol (SG. 1.28), the ratio of Lipiodol and doxorubicin closo to 3:2, and the mixture prepased with puming 50--100 times.