Two cases of primary biliary cirrhosis complicated by acute leukemia

Case 1 was a 43-year-old woman, who was diagnosed as having PBC. After one month, she was hospitalized owing to sudden temporary unconsciousness. She was diagnosed as having acute lymphoid leukemia (ALL) by bone marrow examination. Chemotherapy was done, but she died after 6 months. Case 2 was a 54-year-old woman, who was diagnosed as having PBC with CREST syndrome. Seven years later, she was diagnosed as having acute promyelocytic leukemia (APL) by bone marrow examination. Chemotherapy was continued, and her symptoms are at present, stable. To date, there have been no reports of PBC complicated by acute leukemia.     

A case of primary biliary cirrhosis complicated by Behcet's disease and palmoplantar pustulosis

A 46-year-old woman was diagnosed with palmoplantar pustulosis (PPP) at the Department of Dermatology, Fukushima Medical University Hospital in 2000, and was treated with ointment. However, because liver dysfunction developed in 2003, she was referred to our department, where primary biliary cirrhosis (PBC) was also diagnosed on the basis of clinical findings. One year later, at the age of 49, she developed manifestations of Behget's disease (BD), including erythema nodosum in the lower extremities. Because she had a history of uveitis, recurrent oral ulceration was present, and the HLA typing was positive for B51, BD was additionally diagnosed. Liver function normalized within three months of the start of treatment with ursodesoxycholic acid (UDCA). This is the first case of PBC associated with BD and PPP.     

A case of primary biliary cirrhosis complicated by Behcet＇s disease and palmoplantar pustulosis

A 46-year-old woman was diagnosed with palmoplantar pustulosis (PPP) at the Department of Dermatology, Fukushima Medical University Hospital in 2000, and was treated with ointment. However, because liver dysfunction developed in 2003, she was referred to our department, where primary biliary cirrhosis (PBC) was also diagnosed on the basis of clinical findings. One year later, at the age of 49, she developed manifestations of Behçet’s disease (BD), including erythema nodosum in the lower extremities. Because she had a history of uveitis, recurrent oral ulceration was present, and the HLA typing was positive for B51, BD was additionally diagnosed. Liver function normalized within three months of the start of treatment with ursodesoxycholic acid (UDCA). This is the first case of PBC associated with BD and PPP.     

Acute respiratory failure with gross hemoptysis in a patient with lymphangioleiomyomatosis as part of tuberous sclerosis complex

A 29-year-old woman was admitted to our hospital with a 7-day history of elevated temperature to 39.5 degrees C associated with headache and nausea. She had been diagnosed with tuberous sclerosis complex 10 years earlier. Her unconsciousness progressed, and she was diagnosed as having aseptic meningoencephalitis. The next day, she had a generalized seizure with severe hemoptysis, and she suddenly fell into severe respiratory failure (PaO2/FiO2 = 76.9). Transbronchial lung biopsy revealed the findings of lymphangioleiomyomatosis. It was suggested that neurogenic pulmonary edema accompanied with venous flow obstruction by lymphangioleiomyomatosis lesions resulted in diffuse pulmonary hemorrhage with resultant gross hemoptysis accelerating to severe hypoxemia.     

Neuromyelitis optica in Japanese sisters

We report cases of Japanese sisters with neuromyelitis optica (NMO). The elder sister was 25, when she was diagnosed with right optic neuritis. After 3 months, she developed left optic neuritis and myelitis. At age 27, she had the second relapse, but she has been free from episodes thereafter. The younger sister was 26, when she was diagnosed with optic neuritis. Thus far, she has 9 relapses, comprising both myelitis and optic neuritis. Both sisters had normal brain MRI scans, longitudinally extensive transverse myelitis over 3 vertebral segments, and positive results for anti-aquaporin-4 antibody (AQAP4Ab). They fulfilled the Wingerchuk criteria for definite NMO. Both sisters shared some immunogenetic factors, but they were not exposed to the same environmental factors after their early twenties. The final disability status was almost the same in both cases, and both showed a very benign course. These data suggest that genetic factors affect the age at onset and environmental factors may affect the frequency of relapse.     

Progression from Nonalcoholic Fatty Liver to Nonalcoholic Steatohepatitis Cirrhosis Confirmed by Liver Histology after 14 Years

A 44-year-old patient progressed from nonalcoholic fatty liver (NAFL) to nonalcoholic steatohepatitis (NASH) cirrhosis. She was diagnosed with NAFL via a liver biopsy. At 56 years old, she was diagnosed with NASH stage 3 via a second liver biopsy. One year later, she was diagnosed with NASH cirrhosis via a third liver biopsy. This is the first study to report the gradual deterioration of liver histology shown via three liver biopsies and fibrosis markers in a patient who progressed from NAFL to NASH cirrhosis. Following menopause, it is necessary to be aware of the rapid development of liver fibrosis.     

A rare case of autoimmune polyglandular syndrome type 3

A 57-year-old female was admitted to our hospital suffering from a lower lip tumor, small ulcers in the arms and alopecia of the head. Because she had type 2 diabetes mellitus (DM) for the past 3 years, she was referred to our department of internal medicine for its treatment. Her endogenous insulin secretion was much decreased despite the short duration of diabetes. Glutamic acid decarboxylase antibodies (GADA) and islet cell antibodies (ICA) were both positive. Therefore, she was diagnosed as having slowly progressive form of type 1 DM. Type 1 DM is sometimes complicated with autoimmune disorders. After further examinations, she was diagnosed as having Sj?gren's syndrome, Graves' disease and autoimmune neutropenia (AIN). According to the histological examinations of the lip tumor and peripheral site of the skin ulcer, the patient was diagnosed as having carcinoma spinocellulare and chronic cutaneous lupus erythematosus. The examination also showed positive anti-intrinsic factor and anti-ribonucleoprotein (RNP) antibodies. She is a rare case of an autoimmune polyglandullar syndrome (APS) type 3 simultaneously manifesting these seven diseases with multiple autoimmune antibodies.     

A case of two successful deliveries by a woman with Kallmann syndrome and NIDDM

A 37 year-old female with Kallmann syndrome and NIDDM who had two successful deliveries is reported. She had experienced no menstruation until she had treatment with gestagen in her early twenties. She had withdrawal bleeding only once. At the age of 25, she consulted her family doctor, complaining of amenorrhea. Estrogen progesterone cyclic therapy caused withdrawal bleeding, and clomiphene citrate failed to induce apparent ovulation. In January 1978, 150 IU of hMG was administered daily for 9 days, and then 3000 IU of hCG daily for the following 2 days. This therapy induced pregnancy, which failed spontaneously on June 4th. A year later, in January 1979, 150 IU of hMG was again administered daily for 7 days followed by 6000 IU of hCG for 3 days. This therapy again induced pregnancy. On September 27th, 1979, she delivered a girl vaginally, weighing 3830 g. After this delivery, she experienced no menstruation. In June 1985, she consulted her family doctor again, and she was diagnosed as being pregnant. Since her fasting blood glucose was 145 mg/dl, she was admitted to Kosei Hospital to control her blood glucose. On October 15th, she delivered a girl weighing 2600 g. On June 13th, 1989, she was referred to Kosei Hospital by her family doctor to achieve an accurate control of her blood glucose. During this admission, she was diagnosed as having Kallmann syndrome because of congenital anosmia and hypogonadotropic hypogonadism without any abnormal morphological changes. Vitamin B1 infusion test was negative.(ABSTRACT TRUNCATED AT 250 WORDS)     

A case of congenital pulmonary vein stenosis in an adult

A 35-year-old Japanese woman, complaining of dyspnea after her first delivery, was diagnosed as having primary pulmonary hypertension. Continuous intravenous prostacyclin resulted in an improvement in her cardiac function, 6-min walk and New York Heart Association class, before she died of pulmonary hypertension crisis during further evaluation for pulmonary transplantation. Since the autopsy findings revealed that all 4 pulmonary veins were extremely stenotic due to hypoplasia, she was diagnosed as having had congenital pulmonary vein hypoplasia with stenosis.     

Exercise stress echocardiography for detection of pulmonary arterial hypertension in a patient with systemic sclerosis.

The authors report the case of a 57-year-old patient, diagnosed with systemic sclerosis 16 years ago. She had been followed in the rheumatology outpatient clinic since 2003 and complained of marked fatigue and dyspnea on exertion. In addition to full medical evaluation, she also underwent standard Doppler echocardiography at rest, which was unremarkable, and exercise stress echocardiography. In the latter examination, she was diagnosed with pulmonary arterial hypertension, later confirmed during right heart catheterization. The authors discuss the potential value of this methodology for the study of patients with systemic sclerosis.     

A case of Graves' disease associated with polymyositis

A patient with Graves' disease associated with severe muscle weakness who was finally diagnosed as polymyositis by pathological examination of the muscle is reported. A 28-year-old women was incidentally found to have hyperthyroidism when she consulted a hospital for the evaluation and treatment of anemia in 1979. She was treated with methimazole for approximately a month when she stopped the medication by herself. Approximately two yr later (Nov. 4, 1981) she consulted another hospital with complaints of palpitation and muscle weakness. Diagnosis of hyperthyroidism due to Graves' disease and thyrotoxic myopathy were made, followed by the treatment with radioiodine (4 mCi of 131I). She was further treated with propylthiouracil (PTU). Four yr after the treatment, serum thyroid hormone concentration declined to the lower level than normal and serum TSH concentration increased. She was subsequently treated with synthetic I-T4. Despite the fact she became euthyroid with the treatment, muscle weakness as well as elevated concentrations of muscle enzymes were not improved. Muscle biopsy was made in July 1983, and she was diagnosed as immune polymyositis and treatment with prednisolone and cyclophosphamide in addition to PTU or I-T4, was started. With the treatment, serum LDH decreased to the normal range. However she still has muscle weakness and serum concentrations of CPK and aldolase are still in higher levels than normal range.     

Refractory Duodenal Bleeding Ulcers Successfully Treated with Factor XIII Transfusion

A 67-year-old woman with a history of autoimmune hepatitis was admitted for fever, acute hepatic dysfunction, and acute kidney injury. She was diagnosed with multiple duodenal ulcers. Despite the administration of proton pump inhibitor and red blood cells, her black stool and anemia progressed, and she was therefore transferred to our hospital. Despite hemostatic treatments, she continued to bleed. On the 21st day of admission, an endoscopic examination showed the oozing of blood from the duodenal mucosa. A low factor XIII (FXIII) activity level was detected, and she was administered FXIII concentrate. The bleeding stopped and she was thereafter discharged.     

Dying at 23 with 1p36 deletion syndrome: Laura's family story

Laura was unusual. She had always been different and at times difficult. She was born with a genetic disorder, diagnosed as 1p36 deletion syndrome when she was 21 years old. At 23 she suffered her first cardiac arrest at home and entered the hospital system for the first time apart from infancy. After initially appearing to do well, she suffered a second cardiac arrest 10 weeks after admission. This was followed by an irreversible deterioration and she died 14 weeks after admission. We her family had been with her throughout her traumatic experience. This is our story.     

Virus-associated hemophagocytic syndrome due to rubella virus and varicella-zoster virus dual infection in patient with adult idiopathic thrombocytopenic purpura

A 26-year-old woman with idiopathic thrombocytopenic purpura (ITP) was admitted to our hospital because of fever and rash. Blood tests revealed thrombocytopenia, liver dysfunction, coagulopathy, and hyperferritinemia. Bone marrow examination revealed many atypical lymphocytes and some histiocytes with hemophagocytosis. On admission she was diagnosed with rubella virus-associated hemophagocytic syndrome (VHAS), but on laboratory examination, she was seropositive for varicella-zoster virus (VZV)-IgM as well as rubella virus-IgM. She was therefore diagnosed with dual infection by rubella virus and VZV. Her simultaneous rubella virus and VZV infection may have been related to the VAHS pathogenesis. She was treated with prednisolone and gamma globulin therapy and recovered completely.     

Hepatic sarcoidosis responding to chloroquine as steroid-sparing drug.

We report a 59-year-old lady who presented with exertional dyspnea and was diagnosed to have sarcoidosis. She responded to steroids, but one year later developed abdominal symptoms and was found to have hepatosplenomegaly. Liver biopsy showed non caseating granulomas. As she had developed steroid-induced diabetes she was started on chloroquine and responded well with regression of the liver and spleen during one year of treatment.     

Celiac disease (CD), ulcerative colitis (UC), and primary sclerosing cholangitis (PSC) in one patient: a family study.

We discuss the case of a 17-year-old male who at the age of 7 was diagnosed with celiac disease (CD) together with ulcerative colitis (UC) and primary sclerosing cholangitis (PSC). The patient was treated with gluten-free diet and immunosuppressive drugs (azathioprine), and currently remains asymptomatic. The patient's younger, 12-year-old sister was diagnosed with CD when she was 1.5 years old, and at 7 years she developed type-I diabetes mellitus, which was difficult to control. A family study was made, and both parents were found to be affected with silent CD. All were DQ2 (+). In relation to the case and family study, we provide a series of comments related to CD and its complications.     

Acute myocardial infarction associated with small-size lung cancer in a young woman

A 34-year-old woman visited our hospital with chest pain and was diagnosed with acute myocardial infarction (AMI) on admission. Echocardiography imaging revealed the presence of complex masses in the aortic valve. As serum tumor marker CA19-9 was elevated, she was screened for malignant disease. A computed tomography (CT) scan revealed a solitary pulmonary nodule, but because the nodule was small and non-specific, CT follow-up was considered appropriate. However, she developed hemorrhagic stroke in the short term and was subsequently diagnosed with lung adenocarcinoma. Clinicians should be on alert for the occurrence of AMI in patients with small-size lung cancer.     

Vitamin D deficiency in a patient with systemic lupus erythematosus

SIR, You would not imagine that the patient illustrated oppositewas vitamin D-deficient. However, she is a 21-yr-old Caucasianwith systemic lupus erythematosus (SLE). Because of the natureof her condition she has to wear sunblock factor 30 all yearround. Her tanned appearance is not derived from UVB exposurebut from self-tanning agents. She was diagnosed with SLE in 1997. Initially she presentedwith a widespread photosensitive rash. She was found to be positivefor antinuclear antibodies and double-stranded DNA antibodies.A skin biopsy was consistent with cutaneous lupus. Photosensitivity     

Early-onset diabetic coronary macroangiopathy in young diabetes: two case reports

Macroangiopathy is multifactorial. It is more severe and frequent in association with nephropathy in diabetes mellitus (DM), being the first cause of mortality in both types of DM. Nevertheless, it is poorly understood in young patients. We report on 2 young diabetic patients with early-onset coronary disease. Case 1, 40 yo, Caucasian, female, type 2 DM for 21 y: treated with sulphonylureas until 25 y, she was switched to insulin upon becoming pregnant. Preeclampsia ensued, but no premature delivery occurred. Macroproteinuria remained (0.99 g/24 h), and she progressed to renal failure (clearance 52.7 mg/min) (conservative treatment). At age 36, she had an acute myocardial infarction. Severe tri-arterial disease was diagnosed, and coronary bypass grafting (CABG) performed. Case 2, 34 yo, black, female, type 1 DM for 24 y: diagnosed by diabetic ketoacidosis. Due to poor metabolic control (HbA1c chronically above 4 points beyond upper limit for normal) she progressed to microalbuminuria (0.26 g/24 h) at age 22, after pregnancy. Macroproteinuria (1.7 g/24 h) ensued after a second pregnancy. At 31 y, she presented with stable angina. After coronary angiography, CABG was indicated. These two cases of macroangiopathy in patients diagnosed with DM at an early age show acceleration in the development of coronary disease, suggesting aggressive multifactorial approach of related risk factors from the beginning, regardless of its etiology.     

Fibronectin Glomerulopathy Confused with Glomerular Endothelial Injury in a Patient with Takotsubo Cardiomyopathy

A 46-year-old woman developed takotsubo cardiomyopathy and nephrotic syndrome. The first kidney biopsy suggested non-immune-complex-mediated membranoproliferative glomerulonephritis (MPGN), and she was diagnosed with glomerular endothelial injury associated with takotsubo cardiomyopathy. A second biopsy was performed two years later because of persistent proteinuria despite renin-angiotensin system inhibition. This biopsy indicated non-immune-complex-mediated MPGN, but a mesangial and subendothelial substance of a higher electron density than that in the first biopsy was detected, suggesting the possibility of glomerular disease with non-immune deposits rather than endothelial injury. Finally, she was diagnosed with fibronectin nephropathy. Although rare, fibronectin glomerulopathy should be considered in non-immune-complex-mediated MPGN.