An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure.

A 25-year-old man developed a stroke-like episode. He suffered from renal failure and became dialysis-dependent. His mother was also dialysis-dependent. A3243G point mutation of the mitochondrial tRNA(leu) gene was detected in both of them. The patient was diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), and died of a recurrence of stroke-like episodes at the age of 30. Autopsy revealed numerous abnormal mitochondria in the kidneys, but no renal vascular changes. This is the first report of a MELAS case in which the presence of numerous abnormal mitochondria in podocytes and tubules was confirmed by electron microscopy.

[A case of primary Sjögren's syndrome with acute transverse myelopathy and polyneuropathy as the initial manifestations].

We report a case of primary Sjögren's syndrome with acute transverse myelopathy and polyneuropathy as the initial manifestations. A 72-year-old man developed acute right hemiparesis and his symptoms deteriorated to quadriparesis in four days. A cervical spinal MRI showed an extensive intraparenchymal lesion with high T2-weighted signal intensity, gadolinium enhancement, and cord swelling. An electromyographic study and a sural nerve biopsy showed severe axonal degeneration. The patient complained of thirst and a salivary gland biopsy revealed inflammatory changes, while salivary gland scintigraphy showed diminished secretion. These findings led to a diagnosis of Sjögren's syndrome. Only one case of Sjögren's syndrome with acute transverse myelopathy as the initial manifestation has been reported. In our case, however, polyneuropathy was observed in addition to transverse myelopathy as the initial manifestation. Even if prominent sicca symptoms are absent, all patients with acute transverse myelopathy and polyneuropathy should be carefully examined with considerations of possible presence of Sjögren's syndrome.

[A patient of chronic graft-versus-host disease presenting simultaneously with polymyositis and myasthenia gravis].

We report a patient of polymyositis and myasthenia gravis as manifestations of chronic graft-versus-hot disease (GVHD). A 48-year-old man was diagnosed as having chronic myelogenous leukemia at the age of 42 years, and had bone marrow transplantation (BMT) two years after the onset of the disease. Since he suffered from mild liver dysfunction and cutaneous involvement manifesting chronic GVHD, he was placed on prednisolone and cyclophosphamide. As his condition improved, the prednisolone was gradually tapered. Forty-one months after the BMT, the patient developed muscle pain and muscle weakness. A diagnosis of polymyositis was made from muscle biopsy and laboratory findings. An increase in the prednisolone dose was effective but a few weeks later the patient noticed ptosis and recurrence of muscle weakness. A tensilon test and anti-acetylcholine receptor antibody produced positive results, leading to a diagnosis of myasthenia gravis. Only one case of polymyositis and myasthenia gravis as manifestations of chronic GVHD has been reported, and in our patient both symptoms appeared almost at the same time. Although neuromuscular symptoms as a manifestation of chronic GVHD are rare, all patients receiving BMT should be carefully followed up neurologically to detect neuromuscular complications.

[A case of HTLV-I associated myelopathy with abnormal patchy MRI lesions in the spinal cord].

We report a case of HTLV-I associated myelopathy (HAM) with a spinal cord MRI showing abnormal multifocal and patchy lesions. A 50-year-old woman suffering from progressive paraparesis was admitted to our hospital. HTLV-I antibodies in the serum and CSF were positive, and a diagnosis of HAM was made. Her T2 weighted spinal cord MRI showed scattered areas of high signal intensity from the cervical to the thoracic cord. The lesions were enhanced with gadolinium-DTPA on T1 weighted imaging. Atrophy of the thoracic cord has been reported in many patients with HAM. In rare cases, T2 weighed thoracic cord MRI showed diffuse high signal intensity. The pattern of high signal intensity in our case, however, was multifocal and patchy, thus differing from the findings of previous reports. And we believe this is the first such report. This case suggests that the MRI of HAM patient may show multifocal and scattered lesions in the spinal cord.

[Pryce type I interlobar pulmonary sequestration with anomalous return to the left inferior pulmonary vein].

A 50-year-old woman was examined because of chest discomfort. Chest X-ray films disclosed a tumorous shadow behind the heart. Chest computed tomography (CT) scans revealed a mass connected to the descending aorta, with increased blood flow in the left basal segment. The patient was admitted for further examination. Chest CT scans and cardioscintigrams were very useful as diagnostic tools, but the final diagnosis was made on the basis of angiography. An anomalous tortuous artery ran from the descending aorta into the left basal segment and returned to the left inferior pulmonary vein. The left pulmonary arterial trunk had no basal branch (A8-A10). A loop corresponding to the superior vein (V6) ran beneath the anomalous tortuous artery. To our knowledge, this is the second case of Pryce type-I interlobar pulmonary sequestration with anomalous return to the left inferior pulmonary vein to be reported in Japan. A left inferior lobectomy was performed. Histological finding from the excised tissues showed prominent interstitial fibrosis, atypical adenomatous hyperplasia, and atherosclerosis. Following surgery, the patient's PaO2 increased from 80.4 Torr to 95.8 Torr, suggesting that left inferior lobectomy was an appropriate treatment.

Multiple brain gas embolism after ingestion of concentrated hydrogen peroxide.

We present a 63-year-old man who developed multiple brain infarction after ingesting a 35% hydrogen peroxide solution. Neurologic examination revealed left hemiparesis, primarily affecting the lower limb, and mild weakness of the right lower limb. Gadolinium-enhanced MRI revealed patchy bilateral brain lesions. Oxygen gas embolization is the likely cause of the brain infarctions.

[Problems and management in kidney transplant recipients with impaired glucose metabolism].

Fourty two (12%: Group-I) out of 358 kidney transplant (Tx) recipients showed impaired glucose tolerance in pre-Tx O-GTT and the other 49 (14%: Group-II) showed that only after Tx. Insulin therapy was more frequently required and earlier started after Tx in Group-I than in Group-II, and total dosages of steroids before the initiation of insulin therapy were also smaller in Group-I. These trends were more markedly observed in the patients treated with ciclosporin (CsA) than in those with the conventional therapy. Poor graft survival rate of Group-I in long-term follow-up (> 5 years) was demonstrated. Thus, pre-Tx impaired glucose tolerance and the subsequent immunosuppressants, especially steroids and CsA, were the key factors for deteriorating glucose metabolism after Tx, and meticulous controls of drug doses and glucose levels are needed in diabetic patients, since diabetes could change the fate of kidney grafts.

Breast cancer arising de novo in recipients of kidney allograft.

Immunosuppressive therapy is not only an etiologic factor of de novo malignant disease but is also accelerates progression of the already developed malignant disease in immunosuppressed recipients. Two cases of de novo breast cancer arising in kidney transplant recipients are reported herein. A 25 year-old woman, transplanted one haploidentical kidney transplant 4 years and 9 months ago, developed a left breast tumor. Within one month the tumor had rapidly enlarged from 3.5 cm to 8 cm in diameter by the time she underwent a radical mastectomy. Nine axillary lymph nodes were positive for metastasis. Although her graft function had been poor due to chronic rejection, she was treated with standard immunosuppressive therapy, but not adjuvant therapy. Since local recurrent disease appeared two months postoperatively, the immunosuppressive therapy was ceased and 60Co therapy started. Recurrent disease progressed rapidly, however, and she died 7 months after her operation. A 27 year-old woman, having allograft from an identical sibling, noted a right breast tumor, 8 years and 7 months later. Again the tumor had grown rapidly from 1.8 cm to 3 cm in diameter within one month. She underwent a standard radical mastectomy. One axillary lymph nodes was positive for metastasis. She has been treated with standard immunosuppressive therapy and adjuvant endocrinochemotherapy. Presently, she is alive with a well functioning graft and no disease.

Experience with 247 living related donor nephrectomy cases at a single institution in Japan.

There is currently much concern over the morbidity and mortality of donors undergoing nephrectomy for living related renal transplants. Between April, 1970 and July, 1986, 247 cases of living related renal transplants were performed at the Second Department of Surgery, Kyoto Prefectural University of Medicine. The average age of the donors was 50.3 +/- 9.7 years, 81 per cent of the donors being parents of the recipients. Minor abnormalities which did not affect the donors suitability were found in 71 cases. Nephrectomies were performed extraperitoneally in all cases. Peri-operative complications, including wound complications in 13 cases, urinary infection in 12 cases and pulmonary complications and arrhythmia in 4 cases, were considered to be minor in nature. A variety of renal function tests, carried out two weeks after nephrectomy revealed normal levels, although they had become slightly worse than those estimated pre-operatively. Long-term sequelae in the follow-up period from 18 months to 16 years and 2 months, was studied on 124 donors who answered questionnaires. Currently, there are 5 late deaths, none of which are directly related to the nephrectomy. Of the 124 donors, 85.5 per cent stated that there had been no change in their physical states following surgery. Pain or a feeling of discomfort at the wound site was reported by 10 donors (8.1 per cent) and hypertension was observed only in 3 (2.4 per cent). No major complication directly related to the donor nephrectomy was found, except for one case of incisional hernia.(ABSTRACT TRUNCATED AT 250 WORDS)

Results of kidney transplantation in 25 pediatric patients.

Outcome, long-term prognosis, growth activity and rehabilitation after kidney transplantation were studied in 25 pediatric patients transplanted with a kidney graft from one-haplotype identical parent. Excellent patient and graft survival with low incidences of acute rejection or serious complications could be achieved in this population, as compared with the results of adult recipients. Growth retardations in height and weight were observed in these patients before transplantation, and were significantly correlated with the duration of low or no kidney function. In 12 recipients who were transplanted at ages of younger than 15 years and followed up over two years, a dramatic increase in weight appeared within one year after transplantation and a greater increase in height was exhibited in the second and third year than in the first. Increase in height was significantly greater in those children transplanted at ages of younger than 10 years than in those transplanted at ages of older than 11 years. Catch-up growth was observed in one-third of these children. Retrospectively, there was no difference in the doses of prednisolone given between the two groups of patients with, and without catch-up growth, but the incidence of acute rejection was higher in the group without catch-up growth. Currently, 18 recipients have functioning grafts and 16 (88.9 per cent) of them are in full-time school or working. From these results it is concluded that kidney transplantation is the first feasible manoeuvre for those children with chronic renal failure and it should be performed as soon an possible in order to preserve their growth activity.