Arterial Tortuosity Syndrome in a Neonate

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.

Changes in Acute Poststreptococcal Glomerulonephritis: An Observation Study at a Single Korean Hospital Over Two Decades

PURPOSE: The incidence of acute poststreptococcal glomerulonephritis (APSGN) in Korea has changed. This study aimed to evaluate the epidemiological and clinical changes of APSGN observed in a single Korean institution over two decades. METHODS: We retrospectively analyzed the data of 99 children (0-15 years of age) who were admitted to our institution with APSGN between 1987 and 2013. The patients were selected based on the depression of serum complement 3 (C3, 250 IU/dL) as evidence of previous streptococcal infection. RESULTS: In the 99 patients, the mean age was 8.3 +/- 2.7 years, and the male-tofemale ratio was 2.2:1 (66:30). The annual number of cases fluctuated markedly, and most cases were observed during the late autumn and winter months. However, there have been few cases reported in the past 5 years. Clinical manifestations at presentation, including hypertension and generalized oedema, and the duration of hospitalization were higher and longer in patients admitted during the first half of the study period than during the most recent half-period, suggesting a more severe clinical course in the former group. CONCLUSIONS: APSGN has become a rare disease in Korea with a trend towards a less severe clinical course. This finding suggests that the prevalence of infection-related immune-mediated diseases could change over-time, together with environmental and possibly pathogen-host relationship changes.

A Case of Gastrointestinal and Cervical Lymph Nodal Kaposi's Sarcoma in a Patient with Acquired Immunodeficiency Syndrome

Kaposi's sarcoma was the first malignancy to be recognized as a cancer defining acquired immunodeficiency syndrome (AIDS). Kaposi's sarcoma, a rare tumor, usually presents itself with skin lesions but it may be widely disseminated internally such as digestive, respiratory organ, spleen, or lymph node. The incidence of Kaposi's sarcoma in patients with AIDS has declined in the era of effective antiretroviral therapy (ART), and cases of disseminated Kaposi's sarcomas have rarely been reported in Korea. Chemotherapy is usually used in symptomatic or rapidly progressive disease, and interferon-alpha can be applied as a treatment option. We report a successfully treated case of gastrointestinal and cervical lymph nodal Kaposi's sarcoma in a patient with AIDS who had combined treatment with ART, interferon-alpha, and paclitaxel.