Cowden's disease--a report on the first case in Korea and literature review.

Cowden''s disease, or multiple hamartoma syndrome, is an uncommon condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. We describe a 32-year-old man with oral mucosal papillomatosis and plantar hyperkeratosis as a definite case of Cowden''s disease according to the criteria proposed by Salem and Steck. The patient also had a thyroid mass and numerous gastrointestinal polyps endoscopically. Histologically the polyps were hamartomatous or hyperplastic polyps. The oral papillary lesions were fibroepithelial polyps and the thyroid mass was a follicular adenoma. We review the literature on this entity and summarize the pertinent findings. To the best of our knowledge, this is the first documented case of Cowden''s disease in a Korean.     

Congenital brain and facial anomalies in the D1 trisomy syndrome--report of a case and a review of literature--.

On 58 cases of D1 trisomy, which were classified as those with seven separate D chromosomes, including the one in this report, congenital brain and facial anomalies were reviewed and discussed. Congenital brain defects in this syndrome might be classified into three groups: (I) grossly normal brain, (II) absence of olfactory bulbi and tracts, but normally-separated cerebral hemisphere, and (III) completely or incompletely uncleaved hemispheres with absence of olfactory bulbi and tracts. 25.9% of the cases were found in group I, 56.9% in group II, and 17.2% in group III, respectively. Although facial anomalies predicted the brain defects in group III, malformations of the face were not concerned with the brain defects in group I and II. There were no cases with both, normal brain and face.     

Coats' disease in Tanzania: first case report and literature review

Background

Coats'' disease is an exudative retinal detachment with vascular telangiectasis occurring mostly in male children, the age group most affected by retinoblastoma.

Objectives

Compare the differential diagnoses of Coats'' diseaseEstablish recommendation to early disease detection.

Materials and Methods

A 3-year-old female child was referred to Muhimbili National Hospital (MNH), Tanzania, in September 2011. She had presented at the peripheral hospital with gradual onset of left eye leukocoria for 1 year and pain for 2 months. B-scan showed a mass in the left eye. A clinical diagnosis of retinoblastoma was made. Left eye enucleation was performed; the patient was referred to MNH, with the enucleated specimen.

Results

Brain and orbits scan revealed no residual tumour. The globe measured 2x1.8 cm, the optic nerve stump measured 3 mm. A whitish mass filled the vitreous, with complete retinal detachment. Microscopy showed retinal gliosis, detachment with sub retinal PAS positive exudates, vacuolation and cholesterol clefts. Foreign body giant cells were present; telangiectatic thin-walled blood vessels were identified. Clinico-pathological findings were of stage 4 Coats'' disease.

Conclusion

Coats'' disease is an important differential diagnosis of retinoblastoma. Delay to detect Coats'' disease leads to vision loss which necessitates eye enucleation as was in this child.     

A case of Penicillium marneffei infection in an AIDS patient: the first case in Japan.

A 38-year-old Japanese AIDS patient developed papular lesions which rapidly increased in number, eroded and crusted, and spread over not only skin but also the mucosal surface. High fever, sore throat, malaise and hepatosplenomegaly were also noted, and he died despite 2 months of intensive treatment. An autopsy revealed numerous histiocytes infected with Penicillium marneffei in the lymph nodes, liver, spleen, bone marrow, skin, and mucosal surface of the oral cavity to the pharynx. This case is thought to be the first Japanese case of penicilliosis marneffei.     

Vesico-ileosigmoidal fistula caused by diverticulitis: report of a case and literature review in Japan

Enterovesical fistula is a relatively uncommon complication of colorectal and pelvic malignancies, diverticulitis, inflammatory bowel disease, radiotherapy, and trauma in Asian countries. A case of vesico-ileosigmoidal fistula and a literature review of this disease in Japan are presented. A 70-yr-old male was referred with complaints of urinary pain and pneumaturia. On admission, urinary tract infection and pneumaturia were presented. A barium enema demonstrated multiple diverticulum in his sigmoid colon and the passage of contrast medium into the bladder and ileum. Under the diagnosis of vesico-ileosigmoidal fistula due to suspected diverticulitis of the sigmoid colon, sigmoidectomy and partial resection of the ileum with partial cystectomy were performed. The histopathology revealed diverticulosis of the sigmoid colon with diverticulitis and development of a vesico-ileosigmoidal fistula. No malignant findings were observed. Until the year 2000, a total of 173 cases of vesico-sigmoidal fistula caused by diverticulitis had been reported in Japan. Pneumaturia and fecaluria are the most common types, presenting symptoms in 63% of the cases. Computed tomography, with a sensitivity of 40% to 100%, is the most commonly used diagnostic study. For patients with vesico-sigmoidal fistula, resection of the diseased sigmoid colon and partial cystectomy with primary anastomosis are the safest and most acceptable procedures, leading to the best results.     

MURCS association: case report and review.

We report on a 25 year old woman with aplasia of the Müllerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association). Growth retardation and facial asymmetry were also present. A review of published reports allows MURCS association to be distinguished from related associations, sequences, and syndromes. Moreover, sporadic occurrence, the broad spectrum of associated anomalies, and the involvement of different organ systems closely related in early embryogenesis are arguments for considering MURCS association as the consequence of a developmental field defect.     

Mulvihill-Smith syndrome: case report and review.

We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. Tympner et al had assumed that the patient had a new syndrome of "progressive combined immunodeficiency and ectomesodermal dysplasia". We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid disorder described in four or possibly five sporadic cases to date. We describe his clinical progress up to the age of 20 years. Our patient suffered from severe viral infections, allergic rhinitis and conjunctivitis, delayed puberty, visual loss, modest achievement in high school, and reactive depression. The immunological, facioskeletal, and dental abnormalities are presented in detail.     

Down-Turner syndrome: case report and review.

We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can also be present in patients with Down's syndrome and vice versa. In most of the patients two different cell lines were encountered, although cases with one, three, and even four different cell lines have been reported. Of 28 patients, 21 showed female external genitalia, four were phenotypically male, and three showed ambiguous genitalia. Only six patients (21%) carried a Y chromosome, which is far less than expected.     

Spontaneous adenomyosis in the chimpanzee (Pan troglodytes): a first report and review of the primate literature: case report

Adenomyosis is a non-neoplastic condition characterized by the presence of ectopic endometrium in the myometrium with hyperplasia of adjacent smooth muscle. Common symptoms in women include debilitating pelvic pain and abnormal uterine bleeding, and the condition has been paradoxically associated with both multiparity and subfertility. Adenomyosis spontaneously occurs in humans and some non-human primates, including the baboon and macaque, where it has been associated with primary infertility and the presence of endometriosis. No cases of adenomyosis have been previously reported in Pongidae such as gorilla, orangutan or chimpanzee. We here describe two cases of naturally occurring adenomyosis in the chimpanzee (Pan troglodytes) and briefly review the literature regarding the presence of adenomyosis in non-human primate species.     

Neuraminidase deficiency: case report and review of the phenotype.

A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated with neuraminidase deficiency are reviewed.     

Intracranial medulloepithelioma. A case report and review of the literature

Medulloepithelioma is a rare primitive neuroectodermal tumour of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence. The Authors report a new case of intracranial medulloepithelioma removed from the right cerebellar hemisphere of a 13-year-old boy who showed unspecific signs of intracranial hypertension. Based on a review of the thirty seven cases reported in the literature, they analyse the clinical, histological, immunohistochemical, ultrastructural and therapeutic features of this rare nervous system tumour.     

The first reported case of intestinal spirochaetosis in Japan

A 65-year-old Japanese male consulted Ozuchi Prefectural Hospital (Iwate, Japan) on 19 January 1994 complaining of weight loss. Cecal mucosal biopsy material, which was stained with hematoxylln-eosin revealed a thick, basophllic fuzzy fringe covering the surface epithelium. Transmission and scanning electron microscopy observations demonstrated the presence of slightly wavy spirochaetes with tapered ends, which were attached to the surface epithelium of the colonlc mucosa via one of these ends. The patient did not display any clinical symptoms of Inflammatory bowel disease, and laboratory tests eliminated an Immunodeficiency condition. Thus, in the present case, the Intestinal spirochaetes appear to be harmless commensals. This paper presents the first reported case of Intestinal spirochaetosis fn Japan.     

I-cell disease. A case report and review of the literature

I-cell disease has been reported by many authors but the electron microscopic findings have been reported only rarely. The patient under study was a female infant with a normal delivery after 38 weeks' normal intrauterine life. She showed the physical findings characteristic of I-cell disease, and the diagnosis was made by the analyses of lysosomal enzymes. The child died at the age of 2 years and 3 months due to respiratory insufficiency. By electron microscopy, various-shaped membrane-bound vacuoles were observed in the cytoplasm of various cells such as hepatocytes, myocardial muscle cells, epithelial cells of the renal glomeruli, proximal renal tubular cells, fibroblasts, and chondrocytes. By histochemical analyses we found that these intracytoplasmic storage vacuoles contained glycosaminoglycan and proteoglycan.     

Congenital atransferrinemia. A case report and review of the literature

A four-year-old Polynesian girl with a two-year history of severe microcytic, hypochromic anemia (which was refractory to iron therapy) had a decreased beta-globulin fraction on serum protein electrophoresis, resulting from the absence of the transferrin (TRF) band. Subsequent assays for TRF showed a level below the detectable range. Liver biopsy revealed significant deposition of hemosiderin within hepatocytes and Kupffer cells, in addition to early fibrosis. Two bone marrow aspirates were hypercellular, with decreased myeloid-erythroid ratios. This case represents the eighth reported example of congenital atransferrinemia, a rare, apparently autosomal recessive disease.     

Mucinous metaplasia of the prepuce--a case report and review of literature--a case report

Benign mucinous metaplasia of the prepuce is a rare and under recognized entity which can easily be mistaken for extramammary Paget's disease. It is characterized by the presence of benign mucin containing cells in the squamous epithelium. To the best of our knowledge only 6 such cases have been documented in the literature. We would like to report the first case in our country.