Oral problems associated with CREST syndrome: a case report

A patient with CREST syndrome is described, with such severe limitation of mouth opening that extractions were required before upper gastrointestinal endoscopy could be performed. Features of CREST syndrome of importance to the dental and oral surgeon are described.     

Strongyloidiasis associated with nephrotic syndrome

We report a nephrotic syndrome patient with eosinophilia who developed ileus, epigastralgia and malabsorption due to strongyloidiasis which became symptomatic by steroid therapy. The patient was then treated with thiabendazole and recovered. A percutaneous renal biopsy revealed minimal change nephrotic syndrome. This renal injury may be brought on by severe infection of Strongyloides stercoralis. It is important to rule out strongyloidiasis prior to corticosteroid therapy to patients from eosinophilia endemic areas.     

Rothmund Thomson syndrome associated with esophageal stenosis: report of a case

Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse hair distribution, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis. Although a few reports have been published on patients with RTS associated with gastrointestinal abnormalities, to our knowledge the case described herein is the first documentation of a patient with RTS having upper esophageal stenosis.     

Surgical treatment of Cronkhite-Canada syndrome associated with protein-losing enteropathy: report of a case

PURPOSE: The case of a patient with Cronkhite-Canada syndrome, who developed a protein-losing enteropathy, is reported. METHODS: After localization of the protein-losing region, a right colectomy was performed. RESULTS: Hypoproteinemia and ectodermal changes improved postoperatively. CONCLUSIONS: Surgery is an effective treatment for protein-losing enteropathy in Cronkhite-Canada syndrome. Ectodermal changes improve after correcting malnutrition.     

Sneddon syndrome: a case report

Doxorubicin is cardiotoxic and its use must be monitored carefully. Incidence of refractory cardiac failure is shown to increase once the cumulative dose exceeds 450 mg/m2. However, significant decline of ejection fraction (EF) may occur even at lower dose levels. EF was monitored using Multigated Radionuclide Angiography (MUGA) scan of all consecutive lung cancer patients, treated with Doxorubicin based regimens. Thirteen of 82 patients showed a significant (more than 15%) decline of left ventricular EF. The dose of doxorubicin producing this decline ranged between 91-180 mg/m2. Actual decline in EF ranged between 16-45%. Only 5 of 13 patients developed symptoms attributable to the cardiac disease. Doxorubicin can alter EF significantly in lung cancer patients at levels well below which are considered 'safe'. The reason for massive decline in ejection fraction in these patients has been hypothesized.     

Urolithiasis associated with Crohn's disease: a case report

We report a case of urolithiasis caused by surgical treatment for Crohn's disease. A 28-year-old woman was referred to our department for further examination of renal stones from the medical department in September, 1995. She suffered from Crohn's disease and had a history of jejuno-ileal resection because of perforation of the ileum in 1988. Radiographs revealed multiple bilateral renal stones, and the urine oxalate concentration was elevated. She was treated with extracorporeal shock wave lithotripsy and the administration of sodium bicarbonate and citrate, but these treatments did not prevent recurrence and enlargement of stones. Renal function was gradually worsened and we performed transurethral lithotomy and percutaneous nephrolithotripsy. The stones were mainly composed of oxalate calcium monohydrate. A renal biopsy was performed at the operation, showing deposition of crystals in almost all renal tubules. Diet therapy (low oxalate and low fat) and the administration of sodium bicarbonate and citrate were performed strictly and recurrence was not recognized 10 months after complete removal of the stones.     

Alport syndrome with neurofibromatosis type-I: a case report

We report a 9-year-old boy with repeated fractures of the tibia from age 6 months and microscopic hematuria from age 2 years. His maternal family has a history of nephritis and his paternal family has neurofibromatosis type-I (NF-I). The boy's renal biopsy revealed an irregular attenuation and splitting of the glomerular basement membrane. The skin biopsy was stained with monoclonal antibody against the alpha 5 chain of type IV collagen; the epidermal basement membrane was negative in the boy and segmentally positive in the boy's mother. We conclude that the patient inherited Alport syndrome from his mother and NF-I from his father. We postulate this was a chance association and that this case does not suggest any relationship between the two diseases.     

Cervical infarction associated with vertebral artery occlusion due to spondylotic degeneration: case report

Cases of cervical infarction with clearly documented evidence of the underlying aetiology and associated neuroradiological abnormalities have not been frequently reported. A rare case of cervical infarction caused by midvertebral artery occlusion due to spondylotic degeneration of the spine is described. The most probable aetiological factor affecting this disease entity, and the usefulness of magnetic resonance imaging in the detection of this rare lesion, are briefly discussed.     

Ipsilateral central-type facial palsy and contralateral hemiparesis associated with unilateral medial medullary infarction: a case report

Clinical pictures of medial medullary syndrome are variable, depending upon the extent of the lesion. Facial palsy has rarely been observed even in medullary infarction. However, central-type facial palsy is usually found contralaterally to the infarct area at the level of the rostral medulla. In the present report, we discuss the pathogenesis of the neurological manifestations in a 57-year-old man with hypertension. The patient presented with mild left facial palsy of central type, right hemiparesis, paresthesia, with deep sensory disturbance of the right extremities. An MRI of the brain showed an infarction localized in the medial region of the left upper medulla. Although the exact course of the supranuclear facial pathways remains controversial, the ipsilateral central facial palsy in this patient is considered to have two possible causes: the interruption of aberrant fibers of the corticobulbar tract, which branch off and swing back at the level of the upper-middle medulla, or the disruption of recurrent ascending fibers from the contralateral pyramidal tract, through decussation.     

Cerebral infarction in young women: analysis of 130 cases

Between January 1993 and September 1996, 50 patients underwent isolated subtotal turbinectomy (without associated septal intervention). This retrospective study analyzes the short and long-term subjective results after a mean 24-month follow-up. Surgery was successful in 80% of cases yielding good nasal repermeabilization. Rhinorrhea and post nasal drip were improved in 30% of cases. Facial pains and hyposmia were improved in 71% and 89% respectively. No cases of crusting rhinitis were observed. Subtotal inferior turbinectomy, although it has raised some controversy, is the treatment of choice for the patients suffering from chronic rhinitis related to hypertrophy of the inferior nasal conchae resistant to medical treatment.     

Cerebral sinus thrombosis in a patient with protein S deficiency: a case report

To investigate the role of occupation as a risk factor for hairy cell leukaemia a case-control study on 121 male, hairy cell leukaemia (HCL) patients, and 484 controls matched for age and sex, was conducted. We found significantly elevated risk for HCL among building painters (OR, 5.7; 95% CI, 1.6-20.8; based on six cases and four controls) and construction workers (OR, 3.3; CI, 1.2-9.2; based on seven cases and eight controls). Farming has been suggested as a risk factor in HCL. In this investigation farmers had an OR of 1.2 (CI, 0.6-2.3) and farm workers an OR of 1.5 (CI, 0.8-2.8). However, having ever worked in farming yielded an OR of 1.8 (CI, 1.1-2.9). Having grown up mainly in a rural area gave an OR of 1.4 (CI, 0.9-2.4). UV light has been suggested as a risk factor for non-Hodgkin's lymphoma (NHL). To evaluate the impact of UV exposure, classification of occupations as indoor, outdoor or mixed indoor/outdoor was made. Outdoor and mixed outdoor/indoor work yielded ORs of 2.3 (1.0-4.9) and 1.6 (1.0-2.5), respectively. When the effect of outdoor/indoor or mixed indoor/outdoor work was analysed using a scoring system the OR was 2.0 (CI, 0.9-4.4) for farmers compared with 0.8 (CI, 0.3-1.9) among non-farmers in the highest scoring group. There was no clear correlation between socioeconomic status as defined by the Swedish Socio-Economic Classification (SEI), and the risk of HCL. As many comparisons were made, the possibility of associations occurring by chance can not be excluded.     

Cerebral mucormycosis after liver transplantation: a case report

A fatal case of cerebral mucormycosis occurring shortly after liver transplantation is described. The patient was a 32-yr-old male with advanced end-stage liver disease manifested by tense ascites, spontaneous bacterial peritonitis, deepening jaundice and anuria requiring hemodialysis. The 3rd day after successful liver transplantation the patient developed acute respiratory failure, then focal motor signs. Computed tomography showed fluid in the left maxillary sinus, partial opacification of the ethmoid and sphenoid sinuses, and diffuse low density lesions in both cerebral hemispheres. Despite treatment for cerebritis and cerebral edema, the patient's pupils became fixed and dilated, and brain death was declared. Autopsy revealed mucor sinusitis and cerebritis. Mucormycosis is an opportunistic fungal infection occurring in patients with diabetic ketoacidosis, malignancy, or immunodeficiency, and in those receiving wide-spectrum antibiotics, corticosteroids, or cytotoxic therapy. Mucor most frequently involves the face, rhinocerebral disease predominating. These infections are difficult to treat, but are curable with aggressive and frequent surgical debridement, discontinuation or reduction of immunosuppressive therapy and amphotericin. The diagnosis of mucormycosis is very difficult to make in cases such as the present one, in which the typical presentation and classical signs are not present. A high index of suspicion based on identified risk factors may assist in more rapid diagnosis of this life-threatening mycosis.     

A case of nephrotic syndrome associated with ischemic colitis exhibiting thickening of the colon wall

The patient was a 54-year-old male with proteinuria, which was first noted in 1984. Recently, the patient experienced aggravation of the proteinuria, which resulted in nephrotic syndrome. Renal biopsy revealed findings compatible with membranous nephropathy. While being treated with prednisolone (30 mg/day), the patient experienced intense abdominal pain of sudden onset, diarrhea, and melena. A tumor was demonstrated by abdominal ultrasonography and CT scan. A diagnosis of ischemic colitis was made by colonoscopy. FDP and fibrinogen levels were elevated, and abnormalities of the coagulation and fibrinolytic factors were found at the onset of the symptoms.     

Syringomyelia associated with posterior fossa cyst: a case report

We report a case of a 47-year-old woman with a posterior fossa cyst associated with syringomyelia and hydrocephalus. Her birth was traumatic and she had suffered a fractured skull. About 10 years prior to coming to our department she had occipitalgia and a pain had developed over a month from her right shoulder to hand. Shortly before presenting occasional electric-like shocks were felt in her right hand associated with coughing and hiccuping. Magnetic resonance imaging (MRI) revealed a large midline posterior fossa cyst, hydrocephalus and syrinx (C1-Th11). Cisternography could not demonstrate communication between the cyst and the subarachnoid space and the 4th ventricle was present but without communication with the cyst. The cyst was tentatively diagnosed as an arachnoid cyst. One week after placement of a cyst-peritoneal shunt, CT scans showed a decrease in cyst and ventricle size and 2 months later a follow-up MRI revealed resolution of the syringomyelia. We suspected that cyst-peritoneal shunt was effective for this patient who had syringomyelia associated with incommunicated posterior fossa cyst.