Gene/Protein Disease Symptom Drug Enzyme Compound
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Kikuchi-Fujimoto disease is a rare disease first described in 1972 by Kikuchi and Fujimoto et al. (1,2). Clinically the disease presents with lymphadenitis usually in the cervical region. Most reported cases of Kikuchi-Fujimoto disease have been of Asian origin. The cause is unknown and the condition is self-limiting. Some kind of viral or postviral etiology has been implicated. Bacterial and protozoal organisms as well as various other antigens, chemical, physical and neoplastic, have also been postulated. An association with systemic lupus erythematosus has also been shown. Lymphadenitis, hepatomegaly and splenomegaly as well as leukopenia, elevated erythrocyte sedimentation rate and hepatic abnormalities are common findings. Fever, malaise, fatigue, headache, night sweats, nausea, vomiting, weight loss, cutaneous manifestations, and even neurological symptoms are other complaints. Histologically the lymph nodes show partial involvement with patchy irregular areas of necrosis in the paracortical area with absence of neutrophils. We describe four cases of Kikuchi-Fujimoto disease observed in Greece. Their characteristics are discussed, whilst a review of the literature is attempted.
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PMID:Kikuchi-Fujimoto disease in Greece. A study of four cases and review of the literature. 1249 69

Three patients, a woman aged 46 years and two men aged 81 and 62 years, presented with abdominal pain, nausea, vomiting and/or weight loss. A small intestine follow-through series revealed a significant stenosis in all 3 patients. A laparotomic partial resection of the affected jejunum and corresponding mesentery was performed. A primary adenocarcinoma of the small intestine was diagnosed; pathology revealed that the resections were radical, and pT3N0, pT2N0 and pT3N0 stage tumours respectively. The first patient underwent a repeat operation four months later due to similar complaints caused by a tumour recurrence; fifteen months later she died from recurrent disease. The second patient was disease-free 3 years after surgery. In the third patient, liver and peritoneal metastases developed 16 months after surgery; he died 10 months after palliative chemotherapy had been initiated. Adenocarcinoma of the small intestine is a rare disease and patients often present late with aspecific complaints. This, combined with the fact that these tumours tend to follow an aggressive course, results in a poor five-year survival rate of 10-35%. Surgery is the only curative treatment currently available. A greater awareness of this type of tumour is needed for treatment results to improve.
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PMID:[Primary adenocarcinoma of the small intestine]. 1512 73

Spontaneous intracranial hypotension (SIH) is a rare disease which is associated with variety of symptoms and signs including cranial neuropathies. Though diplopia occurred reportedly in about one fourth of SIH cases, trochlear nerve palsy has been reported only one case in the literature. A 71-year-old previously healthy male developed postural headache and nausea. After 15 days, he began to have diplopia caused by right trochlear nerve palsy. He consulted our hospital 2 months later because only diplopia was not recovered. Magnetic resonance imaging (MRI) showed bilateral thin chronic subdural hematoma (CSDH), brain sagging and downward brain stem displacement, but not ischemic change in brain stem. We suspected SIH for right trochlear nerve palsy, and he had symptomatic therapy. Two months later, he had burr hole surgery because of disturbance of consciousness and right hemiparesis due to progressive bilateral-CSDH. To say nothing of disturbance of consciousness and right hemiparesis, his trochlear nerve palsy was completely recovered after surgery at once. Follow-up MRI showed brain sagging and downward brain stem displacement were recovered.
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PMID:[Spontaneous intracranial hypotension associated with trochlear nerve palsy and bilateral chronic subdural hematoma]. 1509 63

We report a case of spontaneous bacterial peritonitis caused by Klebsiella pneumoniae in a 34-year-old male recipient shortly after kidney transplantation. On posttransplant day 10, the patient started complaining of severe abdominal pain and nausea. Body temperature was 38.4 degrees C. The abdomen was diffusely tender with rigidity and rebound. Laboratory data showed a normal erythrocyte sedimentation rate and serum creatinine level but a slightly elevated C-reactive protein concentration and leukocytosis of 36,200 cells/mm(3) with 88% neutrophils. Explorative laparotomy revealed diffuse purulent peritonitis without an intraabdominal source of infection, such as intestinal perforation. The peritoneal fluid revealed greater than 1000/mm(3) white blood cells and many gram-negative bacilli. Fluid cultures yielded growth of Klebsiella pneumoniae. The patient responded to antibiotic therapy; he was discharged in good condition. This case report draws attention to the impaired host defense that may predispose to spontaneous bacterial peritonitis in renal transplant recipients and alerts the clinician to the possibility of this rare disease.
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PMID:Klebsiella pneumoniae peritonitis shortly after kidney transplantation. 1596 56

Thrombotic thrombocytopenic purpura (TTP) is a rare and often fatal disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia, mental status changes, and renal dysfunction. Central diabetes insipidus (CDI) is a rare disease due to anatomic lesions of the hypothalamicpituitary system associated with various underlying diseases, or trauma. We present an unusual case of TTP and CDI in a 47 year-old African American female who was admitted to our hospital with crampy abdominal pain and nausea. The patient had tachycardia, fever and hypotension. The patient subsequently became confused, developed seizures, and her renal function deteriorated. Bone marrow analysis showed adequate megakaryocytes while a peripheral smear revealed severe thrombocytopenia, polychromasia and schistocytes. The diagnosis of thrombotic thrombocytopenic purpura (TTP) was made and plasmapharesis initiated. Over the next few days, the patient developed severe polyuria with a rise in serum sodium. Central diabetes insipidus was diagnosed and DDAVP (desmopressin acetate, 1-deamino-8-D-arginine vasopressin) was given. However, DDAVP was stopped several times due to worsening thrombocytopenia. Renal function worsened and the patient expired. A review of the literature revealed only one case of report of TTP and central diabetes insipidus. Our case was the only one reporting the use of DDAVP in such a setting.
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PMID:Unique case of thrombotic thrombocytopenic purpura and diabetes insipidus. 1641 83

Primary liver liposarcoma is a rare disease. Because of its rarity, the knowledge of the clinical course, management, and prognosis of primary liver liposarcoma are all limited for clinicians. A 61-year-old female patient who suffered from a huge primary liposarcoma in the central portion of the liver had the clinical presentations of fever, nausea, vomiting, jaundice, and body weight loss. The huge tumor was resected successfully. However, the tumor recurred repeatedly and she had repeated hepatectomies to remove the tumor. The tumor became aggravating after repeated surgeries. Eventually, the patient had cervical spinal metastasis of liposarcoma and she survived for 26 months after liver liposarcoma was diagnosed. Although the tumor may become aggravating after repeated surgeries, repeated hepatectomies are still the best policy to achieve a long-term survival for the patients.
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PMID:A case of huge primary liposarcoma in the liver. 1653 65

We report an immunodeficient patient with a rare gastrointestinal manifestation. A 26-year-old male with common variable immunodeficiency (CVID) and bronchiolitis obliterans, who was on intravenous gamma-globulin and prednisone, presented diffuse abdominal pain, nausea, vomiting and constipation of 3 days' duration. He reported 5 years of recurrent respiratory infections and diarrhea with negative stool tests, including tests for Strongyloides stercoralis. A physical exam revealed a poor general condition, anemia, dehydration and a distended painful abdomen with guarding, without abdominal sounds. The radiological study showed marked dilation of the small bowel that was edematous. Resection of the affected loop was performed and the histopathologic study showed transmural infection with S. stercoralis and hemorrhagic necrosis of the muscular layer, without mucosal destruction. The patient developed malabsorption syndrome and septic shock; he was treated with antibiotics and thiabendazole and was finally discharged in a good general condition. CVID is a rare disease and its association with systemic strongyloidiasis is very uncommon, but it has been reported in patients on corticosteroids. Hemorrhagic necrosis of the muscular layer without mucosal destruction was not found in the literature studied.
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PMID:A rare intestinal manifestation in a patient with common variable immunodeficiency and strongyloidiasis. 1668 1

Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat. Kikuchi-Fujimoto disease is an extremely rare disease known to have a worldwide distribution with higher prevalence among Japanese and other Asiatic individuals. The clinical, histopathological and immunohistochemical features appear to point to a viral etiology, a hypothesis that still has not been proven. KFD is generally diagnosed on the basis of an excisional biopsy of affected lymph nodes. Its recognition is crucial especially because this disease can be mistaken for systemic lupus erythematosus, malignant lymphoma or even, though rarely, for adenocarcinoma. Clinicians' and pathologists' awareness of this disorder may help prevent misdiagnosis and inappropriate treatment. The diagnosis of KFD merits active consideration in any nodal biopsy showing fragmentation, necrosis and karyorrhexis, especially in young individuals presenting with posterior cervical lymphadenopathy. Treatment is symptomatic (analgesics-antipyretics, non-steroidal anti-inflammatory drugs and, rarely, corticosteroids). Spontaneous recovery occurs in 1 to 4 months. Patients with Kikuchi-Fujimoto disease should be followed-up for several years to survey the possibility of the development of systemic lupus erythematosus.
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PMID:Kikuchi-Fujimoto disease. 1672 18

We describe a case of a male patient, 38 years old, HIV-positive (most recent CD4 count about 259/mm(3)), with abdominal pain, nausea, vomiting, anorexia, weight loss, and vespertine high fever with chills. His hemogram showed normocytic and normochromic anemia, with a high erythrocyte sedimentation rate (ESR) and gross granulations in the neutrophils. Transaminases were normal. Bone marrow biopsy evidenced a chronic disease anemia pattern and a lack of infectious agents. Abdominal ultrasound examination showed a normal-size spleen, which exhibited heterogeneous parenchyma and multiple small hypoechoic images, together with small ascites, peripancreatic and para-aortic lymphadenopathy. These findings were confirmed by abdominal CT. The liver was normal in size, but had a hyperechoic image, which was not visualized on CT. Histopathological analysis of one of the multiple abdominal lymph nodes obtained by laparoscopic biopsy exhibited a chronic granulomatous inflammatory process, with caseous necrosis. Tissue sections were positive for BAAR (acid-alcohol-resistant bacillus), and the cultures were positive for Mycobacterium tuberculosis. Anti-tuberculosis treatment was begun, and the patient evolved with improvement of his general state, fever remission and weight gain. Splenic tuberculosis is a rare disease, occurring predominantly in patients in late stages of AIDS and/or disseminated tuberculosis. It is a difficult diagnosis, since there are no specific findings. Hence, complementary examinations, such as abdominal ultrasound/ CT, or fine needle aspiration, are usually necessary for investigation and differential diagnosis. Often, lesion regression after anti-tuberculosis regimens can be seen, and splenectomy is restricted to complicated or refractory disease.
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PMID:Case report of lymph nodal, hepatic and splenic tuberculosis in an HIV-positive patient. 1687 68

Recent advances in imaging techniques such as dynamic intravenous contrast-enhanced computed tomography (CT) and magnetic resonance imaging (MRI) have enabled us to detect pancreatic cysts, some of which are potentially malignant. As the histopathological diagnosis cannot be confirmed preoperatively, enlarged pancreatic cysts are usually removed surgically. We report a rare case of pancreatic angiomatosis in a 21-year-old woman who presented with vague abdominal pain, a feeling of fullness, and nausea. Abdominal ultrasonography, contrast-enhanced CT, and MRI showed a huge mass in the right upper abdomen. We performed pylorus-preserving pancreato-duodenectomy, and the histopathological examination of the excised specimen revealed that the tumor was angiomatosis, probably originating from parapancreatic fibro-adipose tissue. She is doing well and has no evidence of recurrence 8 years after the operation. A complete surgical excision should be performed as curative treatment for pancreatic angiomatosis, which is an extremely rare disease when not associated with Von Hippel-Lindau syndrome.
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PMID:Pancreatic angiomatosis: report of a case. 1808 70


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