Case Reports

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    Leibniz Research Centre for Working Environment and Human Factors
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    Peritoneal tuberculosis with elevated CA-125 mimicking ovarian cancer with carcinomatosis peritonei
    (2016-11-16) Chie, Jerry Chin-Wei; Fang, Chia-Lang; Chan, Wing P.
    Preoperative diagnosis of peritoneal tuberculosis is often difficult because of confusion with ovarian cancer. A 56-year-old woman was admitted to our hospital with abdominal fullness. Ascites, prominent bilateral ovaries, and elevated CA-125 were noted. Computed tomography showed thickened peritoneum and strandings in the mesentery and omentum. Exploratory laparotomy was performed under the provisional diagnosis of ovarian cancer, but the final diagnosis was peritoneal tuberculosis. Careful evaluation of bilateral fallopian tubes and ovaries and peritoneum are helpful for correct diagnosis.
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    First reported case of haemoglobin-M Hyde Park in a Malay family living in Malaysia
    (2016-11-07) Loong, Tang Yee; Chong, Doris Lau Sie; Jamal, A. Rahman A.; Murad, Nor Azian Abdul; Sabudin, Raja Zahratul Azma Raja; Fun, Leong Chooi
    Haemoglobin (Hb)-M Hyde Park, also known as Hb-M Akita is a rare type of hereditary Hb M due to autosomal dominant mutation of CAC>TAC on codon 92 of β globin gene resulting in the replacement of histidine by tyrosine on β globin chain. This variant Hb has a tendency to form methaemoglobin (metHb). The iron ion in metHb is oxidized to ferric (Fe3+) which is unable to carry oxygen and the patients manifest as cyanosis clinically. A 9-year-old Malay girl was incidentally found to be cyanotic when she presented to a health clinic. Laboratory investigations revealed raised methaemoglobin levels and Hb analysis findings were consistent with Hb-M Hyde Park. β gene sequencing confirmed a point mutation of CAC>TAC on codon 92 in one of the β genes. The family study done on the individuals with cyanosis showed similar findings. A diagnosis of heterozygous Hb-M Hyde Park was made. Patients with this variant Hb usually presented with cyanosis with mild haemolysis and maybe misdiagnosed as congenital heart disease. No further treatment is needed as patients are relatively asymptomatic. Although the disease is harmless in the heterozygous carriers but the offspring of the carriers may suffer severe haemolytic anaemia when the offspring also inherit other β haemoglobinopathies/thalassemia. This can happen due to high prevalence of β thalassemia carrier (3.5-4 %) found in Malaysia. At the time of writing, this is the first case of hereditary Hb-M Hyde Park diagnosed in a Malay family living in Malaysia.
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    Localized Langerhans cell histiocytosis masquerading as Brodie s abscess in a 2-year-old child: a case report
    (2016-01-18) Chang, Wei-Fang; Hsu, Yi-Chih; Wu, Yi-Der; Kuo, Chun-Lang; Huang, Guo-Shu
    Langerhans cell histiocytosis (LCH), formerly known as histiocytosis X, refers to a spectrum of diseases characterized by idiopathic proliferation of histiocytes that produce either focal (localized LCH) or systemic manifestations (Hand–Schüller–Christian disease and Letterer–Siwe disease). Localized LCH accounts for approximately 60–70 % of all LCH cases. Osseous involvement is the most common manifestation and typically involves the flat bones, along with lesions of the skull, pelvis, and ribs. Localized LCH in bone shows a wide spectrum of clinical manifestations and radiologic features that may mimic those of infections as well as benign and malignant tumors. The diagnostic imaging findings of localized LCH are also diverse and challenging. The penumbra sign is a common and characteristic magnetic resonance imaging (MRI) feature of Brodie’s abscess, but is rarely seen in localized LCH. In this report, we describe a case of localized LCH misdiagnosed as Brodie’s abscess in a 2-year-old child based on clinical symptoms, laboratory findings, and pre-diagnostic MRI findings (penumbra sign). Therefore, the penumbra sign is not sufficient to clearly establish the diagnosis of Brodie’s abscess, and the differential diagnosis of localized LCH should be considered when a child with an osteolytic lesion presents with a penumbra sign.