Tubulointerstitial nephritis and uveitis syndrome in two siblings.

Two Japanese sisters with persistent uveitis showed significant increased levels of urinary beta-2 microglobulin. A percutaneous renal biopsy performed in the younger sister revealed tubulointerstitial nephritis (TIN) with helper/inducer T cell infiltrates. Also, abnormal 67-gallium accumulation in the kidneys, suggesting TIN, was observed in the other one at the same time. Although patients with the syndrome of tubulointerstitial nephritis and uveitis (TINU) have been reported to date, its occurrence in siblings has rarely been seen. Both of them shared same human leukocyte antigen (HLA) DR6, suggesting the potential association between HLA-DR6 and TINU.

[Intracranial capillary hemangioma: a case report].

Capillary hemangiomas are the most common tumor of the neck and head in children. Intracranial capillary hemangioma without generalized neuro-cutaneous hemangiomatosis is extremely rare, with only one report in the literature. We report a case of intracranial capillary hemangioma originating from the temporal base. An 8-year-old boy presented with a severe headache and nausea. A CT scan showed a low-density area in the left temporal lobe and an iso-density mass at the temporal base. This mass was enhanced by contrast medium. The mass lesion appeared as an iso-intensity area on T1-weighted MR images and as a high-intensity area on T2-weighted MR images, and the mass was enhanced almost uniformly by gadoliniumdiethylene triaminepenta-acetic acid. Cerebral angiography showed abnormal staining fed by the anterior temporal artery. An operation was performed, and all of the tumor with the dura attached was removed. The histological diagnosis was capillary hemangioma. The tumor consisted of a proliferation of capillary vessels lined by a single layer of endothelial cells. In this paper, we review the clinical features, neuro-imaging findings and proposed etiology of capillary hemangioma.

Acute glomerulonephritis superimposed on focal segmental glomerulosclerosis: a case report.

A 9-year-old boy was referred to our hospital because of significant hematuria and proteinuria associated with hypocomplementemia. Although he had had a 3-year history of asymptomatic persistent proteinuria detected by urine screening of school children, he did not visit a physician. Finally, he visited a regional hospital, and hypocomplementemia was noted there. A percutaneous renal biopsy performed hospital day 4 revealed diffuse endocapillary proliferative glomerulonephritis with severe tubulointerstitial changes. Although his hematuria and hypocomplementemia spontaneously subsided within a month, proteinuria remained. A renal biopsy performed 4 months after the first renal biopsy revealed the lesion suggesting advanced focal segmental glomerulosclerosis (FSGS). Despite corticosteroid treatment, his proteinuria persisted, and he developed end stage renal failure. These clinical observation indicated that he had acute glomerulonephritis (AGN) superimposed on non-nephrotic FSGS, and that the episode of AGN might cause exacerbation of the FSGS.

Focal segmental glomerulosclerosis: unremitting proteinuria of long duration as a possible etiology?

A Japanese boy aged 9 years referred to our hospital because of steroid-resistant proteinuria. He had a 6-year history of unremitting proteinuria and was diagnosed as having minimal-change disease (MCD) by the repeated renal biopsies performed at the age of 3.5 years and 8.5 years, respectively. His proteinuria fluctuated ranging from 115 mg/100 ml to 645 mg/100 ml, and serum total protein ranged from 59 g/liter to 63 g/liter. The third renal biopsy at the presentation also revealed MCD. Thereafter he was treated with an anti-thrombocyte agent combined with an angiotensin converting enzyme inhibitor. Despite unremitting proteinuria of long duration, he did not have any complaints. At the age of 11.5 years, severe tubulointerstitial lesion was observed in the fourth renal biopsy. The fifth renal biopsy 6 months after the fourth finally revealed the lesion of focal segmental glomerulosclerosis (FSGS). Although the interpretation of his repeated renal biopsies were considered to be limited, these clinical observation suggested that his unremitting proteinuria of long duration might have been attributed to subsequent progression FSGS.

Glomerulonephritis without IgA deposits in a case of Henoch-Schönlein purpura.

A boy aged 3 years 8 months with Henoch-Schönlein purpura (HSP) developed significant proteinuria with hematuria 2 days after the appearance of purpura rash. Although thought to be purpura nephritis, a percutaneous renal biopsy revealed diffuse mesangial proliferative glomerulonephritis (MesPGN) without deposition of immunoglobulin A or complement. Since his urine screening test during a health check at the age of 3.5 years had been unremarkable, HSP might have played a role in the pathogenesis of his non-IgA MesPGN. To our knowledge, non-IgA MesPGN is an uncommon renal manifestation of HSP.

[A child case of idiopathic membranous glomerulonephritis associated with isolated anti-nuclear antibody detected by urine mass-screening of school children].

A 12-year-old boy was referred to our hospital because of persistent hematuria with proteinuria. He was found to have urine abnormalities by a school mass-screening and visited a hospital, where a routine examination revealed proteinuria of 190 mg/d/, hematuria of 2+ and anti-nuclear antibody (ANA) of 1: 320 with a speckled pattern. The other laboratory findings, including anti-DNA antibody were unremarkable. Hypocomplementemia was not seen. Although he had no disabilities and manifestations suggesting systemic lupus erythematosus, urine abnormalities persisted. Percutaneous renal biopsy findings demonstrated stage II diffuse membranous glomerulonephritis (MGN). Neither anti-hepatitis B virus antigens and antibodies nor hepatitis C virus antibody were detected in his sera. Thus, the diagnosis of idiopathic MGN was made. Initiation of a 6-month course of alternate-day prednisolone (an initial dosage at 30 mg) combined with an anti-thrombocyte agent resulted in gradual subsidence of the urine abnormalities and ANA titer. Although pathogenesis of his MGN remains speculative, possible activation of autoimmunities, which led to ANA positivity, might be responsible.

Subclinical Sjögren's syndrome: a significant 67gallium accumulation in the orbits and parotid glands.

An 8-year-old girl with hypergammaglobulinemia showed an abnormal 67gallium accumulation in the orbits and parotid glands. Although she did not have any subjective siccant complaints, reported typical histopathological and sialographic changes suggesting Sjögren's syndrome (SjS) were observed in the salivary glands. Gallium scintigram might be a valuable and non-invasive diagnostic tool in the diagnosis of children with SjS without sicca symptoms.

Bile canaliculi-like lumina in fibrolamellar carcinoma of the liver: a light- and electron-microscopic study and three-dimensional examination of serial sections.

Fibrolamellar carcinoma (FLC) is a variant of hepatocellular carcinoma characterized by distinct pathological features. The presence of intracellular lumina resembling bile canaliculi was previously reported in tumor cells of FLC on electron microscopy. Using light microscopy, we describe the presence of intracellular lumina in FLC, which was resected from a 15-year-old Japanese girl, as round structures lined with a brush-like border. These lumina occasionally contained bile. Light microscopic examination of 1 micron thick serial sections of Epon-embedded tissue samples showed that the lumina were located in the intracellular space without any connection to the intercellular space. However, we also detected a small number of lumina that were lined by microvilli, which were present between adjacent tumor cells. Results suggest that the presence of the intracellular lumina in tumor cells probably represents a common histopathologic feature of FLC.

Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndrome: an ultrastructural study.

An electron microscopic study of peripheral leukocytes obtained from a 39 year old woman with Hermansky-Pudlak syndrome was performed. Ceroid pigment granules were found within the lysosomes in 3.5% of monocytes and 5.4% of lymphocytes. Infrequently, pigment granules were also found in the parallel tubular arrays of lymphocytes. The lymphocytes containing ceroid pigment granules were confirmed to be T cells by immunoelectron microscopy. It was speculated that intralysosomal accumulation of ceroid pigment granules in Hermansky-Pudlak syndrome may be due to lysosomal dysfunction.

Adenomyoepithelioma (myoepithelioma) of the breast in a male.

Adenomyoepithelioma (myoepithelioma) of the breast in a 47-year-old man is reported. The tumor consisted of a prominent proliferation of spindle cells surrounding mammary ducts. Immunohistochemical and electron microscopic observations confirmed the myoepithelial origin of these spindle cells. This is the first report of an adenomyoepithelioma of the breast that developed in a male.

Origin of so-called mesothelioma of the atrioventricular node. An immunohistochemical study.

To determine the origin of a mesothelioma of the atrioventricular node, immunohistochemical studies that used various antibodies, including the antibody against mesothelial cells, were performed on a mesothelioma of the atrioventricular node in a case. The lining cells of the tubules that composed the tumor were negative when tested with anti-mesothelial cell antibodies. Carcinoembryonic antigen was negative, but the secretory component was positive. Serotonin and calcitonin were positive in a few cells. We concluded that a mesothelial origin was unlikely, and it was suggested that the tumor was of an entodermal origin.

[Nuclear morphometric and DNA content analyses of cancer cells in superficial esophageal cancer with reference to lymph node metastasis].

In 23 cases of surgically resected superficial esophageal cancer which was defined by Japanese Society for Esophageal Diseases, the nuclear area (NA), nuclear shape factor (NSF) and DNA content (DNA) of cancer cells were measured using an image analysis system, and, in 7 out of the 23 cases, biopsy specimens were examined in the same way as well. The results were analyzed and evaluated with respect to lymph node metastasis. The NA was significantly larger (p less than 0.01) and the DNA content value was significantly higher (p less than 0.05) in the tumors with lymph node metastasis than in those with no lymph node metastasis. By means of a linear discriminant analysis using NA and DNA as variables, z = 0.238 X NA + 0.475 X DNA - 11.9, existence of lymph node metastasis could be correctly presumed at 87%. No false discrimination was found on preoperative biopsy specimens in 7 cases in which the accuracy of the discriminant analysis could be confirmed by microscopic examination of the lymph nodes extirpated at operation for esophagectomy. Conclusively NA and DNA correlate significantly with existence of lymph node metastasis in the patients with superficial esophageal cancer, and might be useful for preoperative predicting whether or not lymph node metastasis exists.

[An immunohistochemical study on neuron specific enolase in testicular germ cell tumors].

Testicular germ cell tumors obtained from 44 patients were immunohistochemically studied using anti-neuron specific enolase (NSE) antibody. The level of NSE in the serum was also measured in 9 patients before and after extirpation of the tumor. As for tumor cells of seminoma, 19 of 20 pure seminomas and all 9 of mixed type were positive for NSE. On the contrary, a spermatocytic seminoma was NSE-negative. As for embryonal carcinomas, some tumor cells were NSE-positive in 13 of 15 of mixed type. In yolk sac tumor, a few tumor cells were also NSE-positive in 8 of 21 of both pure and mixed types. Some NSE-positive cells were found in teratomatous components of 10 of 14 mature and immature teratomas of both pure and mixed types. These were in neural cells, chondrocytes, and glandular epithelial cells. Spermatogonia in 5 normal testes were NSE-positive. NSE level in the serum was elevated before extirpation and decreased after extirpation in 4 of 5 cases of seminoma of pure type and in 1 of 2 of mixed type which included seminomatous elements. All of these cases were either in the advanced stage or had a rather large primary tumors. Immunohistochemical study of testicular germ cell tumors using anti-NSE antibody may facilitate histological diagnosis, and serum NSE level may be useful for monitoring the clinical course as well as for clinical diagnosis of seminoma.

Case report 675: Lipoblastoma of knee.

Lipoblastoma in the prepatellar region was observed in a 7-month-old girl. The diffuse (lipoblastomatosis) and circumscribed forms have different radiological appearances. Lobular proliferation of fatty tissue with fibrous septae is characteristic of the circumscribed form.

[Glomerulocystic kidney: report of two autopsy cases].

We reported two cases of glomerulocystic kidney (GCK). Case 1 was a 35-day-old male who was born at 38 weeks of gestation and weighed 1750 g at birth. He showed chromosomal aberration and surface anomaly, and was diagnosed as having pentalogy of Fallot. There were no signs of renal disturbance. At autopsy, subcapsular cysts composed of dilated Bowman's capsules were found. Case 2 was a 63-year-old man. He suffered from mild cerebral infarction at the age of 45. At the age of 51, he was diagnosed as having chronic glomerulonephritis and began hemodialysis at the age of 55. He died of uremic lung at 63. Diffuse dilatation of Bowman's capsules were found in the renal cortices. In the liver, proliferation and cystic dilatation of interlobular bile ducts were noted. The patients with GCK without any severe disease in other organs show no or stable symptoms in the early period of life, but later developed severe renal insufficiency.

Secretory carcinoma coexistent with mucinous carcinoma in the breast. Report of a case.

Secretory carcinoma and mucinous carcinoma were found to coexist in the breast of a 67-year-old post-menopausal woman, although the tumors were separated by a thin fibrous septum. Histochemically, intra- and extracellular secretory materials in both carcinomas were strongly positive for alcian blue, PAS and mucicarmine staining, but immunohistochemically negative for alpha-lactalbumin and CEA. Membrane-bound intracytoplasmic vacuoles showing emiocytosis were observed in both the secretory and mucinous carcinomas by electron microscopy. No differences were observed between the tumor cells of secretory carcinoma and those of mucinous carcinoma by histochemistry, immunohistochemistry and electron microscopy. However, there were definite statistically significant differences in the results of morphometry of tumor cell nuclei. Secretory carcinoma is considered to be an anaplastic variant type of mucinous carcinoma.

Ceroid-lipofuscinosis. Report of two autopsy cases.

Light and electron microscopic examinations were performed on two autopsy cases of ceroid-lipofuscinosis of the juvenile (Case 1) and late infantile (Case 2) types. Much ceroid-lipofuscin (CL) was found in nerve cells throughout the nervous system. In Case 1, CL had also accumulated in thyroid follicular cells, glomerular podocytes, and epithelial cells of the ductus epididymidis, and in the endothelium and smooth muscle of vessels. Electron microscopy showed CL in 5% of peripheral lymphocytes sampled when the patient was alive. In Case 2, an accumulation of CL was found in the vascular endothelial cells of the cerebrum, and Kupffer cells and sinusoidal endothelial cells of the liver. The CL was autofluorescent, and was seen to be composed of electron-dense granules, lipid droplets, lamellar structures, and curvilinear bodies by electron microscopy. Limiting membranes were often found surrounding CL granules. The dolichol level in the cerebral cortex was high in Case 1. Accumulation of CL was found in cells other than nerve cells, although the main signs and symptoms were caused by the involvement of nerve cells. The CL showed various ultrastructural features.

Metachromatic leukodystrophy. Report of siblings with the juvenile type of metachromatic leukodystrophy.

Two sisters with juvenile metachromatic leukodystrophy are described. The patients were 17 and 20 years old. The younger sister died and an autopsy was performed. The elder sister keeps alive. A sural nerve biopsy of both cases revealed an accumulation of metachromatic lipid granules in the Schwann cells and macrophages. The autopsy also disclosed these granules especially in the brain, gallbladder, kidney and pancreas. A lipid analysis of the cerebral white matter showed sulfatide accumulation that was 1.5 times that of controls. Histochemically, the accumulated lipid was different in the brain from that in other organs. An electron microscopic examination of the accumulated metachromatic lipid granules showed various structures such as concentric lamellar, tuffstone, herringbone and hexagonal honeycomb appearances, and some ultrastructural differences between the nervous system and other organs.