• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Journal of the Korean Society of Radiology
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• v.83 no.3
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• pp.687-692
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• 2022

Male breast cancer is rare, accounting for approximately 1% of breast cancers. Metastasis from extra-mammary malignancy to the breast in men is extremely rare. The most common primary tumors that metastasize to the breast in male are prostate, lung, stomach, colorectal cancer, melanoma, and sarcoma. To our knowledge, only a few cases of bladder cancer presenting with metastasis to the male breast have been reported, and metastasis with infiltration rather than mass is extremely rare. We report imaging findings on mammography and ultrasonography in a 59-year-old male with bladder cancer metastatic to the breast.

• Journal of the Korean Society of Radiology
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• v.83 no.2
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• pp.425-431
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• 2022

Gastric metastasis from renal cell carcinoma (RCC) is extremely rare, occurring in 0.2% of all RCC cases. Owing to its low prevalence, metachronous gastric metastasis from RCC may be underdiagnosed, and the imaging findings have not been well-established. Herein we present a case of metastatic RCC manifesting as a gastric polyp in a 70-year-old female along with a literature review on the imaging findings of gastric metastases from RCC. In patients presenting with gastric hyper-enhancing polypoid masses, metastasis from RCC should be considered as a differential diagnosis.

• Journal of the Korean Society of Radiology
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• v.82 no.3
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• pp.721-728
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• 2021

Biliary adenofibromas are rare biliary epithelial tumors that are classified as benign. Nevertheless, some cases have been reported to show malignant transformations. The radiologic findings of biliary adenofibromas and their malignant transformation are not well-established because of their rarity. We present a case of a cholangiocarcinoma arising from a biliary adenofibroma assessed using ultrasonography, CT, and MRI. The differential diagnoses include other hepatic tumors.

• Journal of the Korean Society of Radiology
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• v.83 no.6
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• pp.1418-1425
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• 2022

Elderly patients with a history of chronic alcoholism presented to our hospital with episodes of melena, abdominal pain, and anemia. During admission, hemorrhagic cystic lesion at the pancreas was observed on abdominal CT. Transcatheter angiography confirmed active bleeding foci and arterial embolization was performed. After the procedure, the bleeding was resolved. The authors report two cases of hemosuccus pancreaticus and pancreaticocolic fistula associated with pancreatitis, a rare cause of gastrointestinal bleeding, treated with vascular intervention.

• Journal of the Korean Society of Radiology
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• v.83 no.4
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• pp.945-950
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• 2022

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a common autoimmune encephalitis that is noted to be a severe but treatable disease entity. Patients with anti-NMDAR encephalitis often develop psychotic symptoms, including delusions, hallucinations, and paranoia, as well as memory impairment and persistent loss of attention. However, MRI findings in such patients show no abnormalities in most cases. Although typical brain abnormality features, known as T2 hyperintensities, involve the brain parenchyma and contrast enhancement at the cerebral cortex or overlying meninges, isolated leptomeningeal enhancement has been rarely reported in anti-NMDAR encephalitis. Herein, we report a patient with anti-NMDAR encephalitis who presented with isolated leptomeningeal enhancement, additionally showing the diagnostic value of contrast-enhanced fluid-attenuated inversion recovery imaging.

• Journal of the Korean Society of Radiology
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• v.81 no.3
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• pp.746-752
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• 2020

Basaloid squamous cell carcinoma of the lung is now considered a subtype of squamous cell carcinoma as per the 2015 WHO classification and remains a relatively unknown type of lung cancer due to its rarity. Here we report two cases of basaloid squamous cell carcinoma of the lung and their CT findings to clarify some of the radiologic features of this type of cancer. Two patients aged 85 and 68 years with lung basaloid squamous cell carcinoma visited our institution and underwent surgical resection. On CT, the lesions were 3.1 and 2.8 cm in size, respectively, well-defined, round in shape with lobulated margins and prominent intratumoral necrosis. The latter case was followed after operation for 20 months, and there was no recurrence of the disease on CT. Although very rare, basaloid squamous cell carcinoma should be considered a subtype of lung cancer in tumors sharing these CT findings.

• Journal of the Korean Society of Radiology
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• v.82 no.2
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• pp.462-468
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• 2021

Parosteal lipoma is a rare type of lipoma, the incidence being approximately 0.3% of all lipomas. Moreover, parosteal lipoma coexisting with osteochondroma is extremely rare. A few cases with coexistence of osteochondroma and parosteal lipoma have been reported and they were thought to be reactive changes of adjacent bone by parosteal lipoma. However, temporal relationship of these tumors could not be explained. Here, we report a case of parosteal lipoma associated with osteochondroma of the right ilium developed over 6 years, with follow-up radiographs.

• Journal of the Korean Society of Radiology
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• v.82 no.2
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• pp.475-480
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• 2021

Xanthogranulomatous pyelonephritis (XGP) is a rare type of chronic bacterial nephritis, which rarely involves the invasion of adjacent organs or the formation of fistulas due to tissue-destructive granulomatous reactions. Although the invasions of various adjacent organs have been reported in several cases of XGP, MRI data on their features are limited. MRI has a better soft-tissue resolution than CT. Thus, it can identify the extent of extrarenal involvement in advanced XGP, and the findings can be used in treatment planning. Herein, we report a rare case of XGP with nephropleural fistula formation diagnosed using CT and MRI.

• Journal of the Korean Society of Radiology
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• v.81 no.6
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• pp.1517-1522
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• 2020

Persistent sciatic artery (PSA), a rare congenital vascular anomaly, increases susceptibility to aneurysms and accounts for 40-61% of the cases. Here, we describe a case of PSA in a 70-yearold man with a history of alcoholic liver cirrhosis. Bilateral complete PSAs were detected incidentally on computed tomography angiography during evaluation for spontaneous intramuscular bleeding in the thigh due to cirrhosis-related coagulopathy. Selective angiography of the left PSA revealed aneurysmal dilatation and thrombotic occlusion of the PSA, which was partially removed with aspiration thrombectomy. Intramuscular bleeding was succesfully managed with empirical embolization of the deep femoral artery.