Spontaneous regression of familial glioma of the optic nerve in a boy with suspected neurofibromatosis 1 (Recklinghausen''s disease)

A boy with a large intracranial glioma of the optic tract and probable neurofibromatosis of the first type was observed for 8 years since the age of 7 years. A series of MR scans was made over this period. A notable decrease of the tumor size was seen on its signals on the MR scans. This was paralleled by an improvement of the vision acuity, color field, and visual field on the involved eye. Patient's grandmother had an intracranial glioma of the optic nerve with a slight but stable decrease of the visual functions. The tumor shape in the grandmother and grandchild is remarkably similar. This finding in the grandmother and stability of her vision decreased from childhood permit us to propose that the tumor did not develop and even regressed with time.     

Wilson's disease: a review apropos of a clinical experience in 16 patients

Wilson's Disease is an inherited disorder of copper metabolism. We report 16 patients (6 males) with the disease; 6 had hepatic involvement exclusively, 4 had neurological involvement, 3 had a neurological and hepatic involvement and 3 were asymptomatic. The age onset was 9 years for hepatic and 17 years for neurologic involvement. The mean delay in diagnosis was 14 months. Chronic hepatitis, cirrhosis and fulminant hepatic failure were the clinical forms of liver disease. Patients with neurologic disorders had behavioral disturbances and extrapyramidal manifestations such as dystonia and parkinsonism. Patients had a good response to penicillamine, except 3 that died of liver complications, in whom the treatment was delayed or discontinued. We conclude that this metabolic disease must be suspected in pubertal children and in adults of less than 30 years old with liver disease of unknown origin or behavioral alterations associated to an extrapyramidal syndrome.     

Von Recklinghausen type I neurofibromatosis and neuroendocrine tumor (somatostatinoma) in a 50-year-old woman

HISTORY AND CLINICAL FINDINGS: A 50-year-old woman has had diffuse abdominal symptoms for approximately 2 weeks. For 30 years a von Recklinghausen's neurofibromatosis has been known. INVESTIGATIONS: Clinically and chemically there was a cholestasis (alkaline phosphatase 244 U/l, gamma GT 83 U/l) with uneventful values for transaminases and bilirubin. The hepatitis serology (A, B, C) as well as the AMA were negative. Somatostatin with 73 ng/l was slightly increased. Ultrasonography revealed a low-grade intrahepatic cholestasis, the ductus pancreaticus was extended to 9 mm, while endoscopic retrograde cholangiopancreatography showed an extended pancreatic duct without inflamed changes as well as an extended intra- and extrahepatic gall duct system without detecting a stone. The oesophagogastroduodenoscopy showed a polypoid tumor 3 cm above the Papilla Vateri which is part of a neuroendocrine tumor of the carcinoid type, immunoreactive towards somatostatin. TREATMENT AND COURSE: In the framework of the surgical intervention carried out by extirpation of the polypoid tumor above the Papilla Vateri by segment excision with a duodeno-duodenostomy. Within a period of 15 months, the patient was free from a tumor relapse or metastasis. CONCLUSION: Carcinoid tumors should always be considered in patients who have von Recklinghausen's neurofibromatosis in combination with abdominal pain in the duodenal area, especially if cholestasis parameters and bilirubin are high or if gastrointestinal bleeding occurs.     

Sneddon''s syndrome: apropos a case

The case of a 76 year old patient diagnosed of severe dysphagia by familiar oculopharyngeal muscular dystrophy is presented. Central venous catheterization (right internal jugular) was required for parenteral nutrition. A few minutes after catheterization, the patient developed respiratory arrest and coma and later cerebral vascular accident with left flaccid hemiplegia, with the ischemic lesion being focalized in the right parietooccipital region as well as in the left of the posterior fossa were observed. Aneurismatic dissection of the bilateral vertebral artery during lateralization of the head may be a cause of the lesions presented by the patient associated to arterial spasm or not. In central venous catheterization the possible complications derived from the position of the neck may carry must be taken into account.     

Importance of realistic tests for drug allergy: apropos of a clinical case

Drug allergy is the most difficult area in Allergology because: Clinical polymorphism and specially physiopathology (IgE-dependent hypersensibility reaction, cyclo-oxygenase inhibitor, etc.). Feeble specificity and sensitivity in the basic immunoallergic investigation (Skin tests, specific IgE). Very frequently his necessitates recourse to REALISTIC TESTS of drug re-introduction under clinical and biological surveillance (HSI mediators: histamine/tryptase/urinary methyl histamine) to produce a diagnosis.     

The rare metastasis of osteosarcoma of a long bone associated with von Recklinghausen''s neurofibromatosis

Benign mesothelioma of the pleura is a very rare tumor. The cells responsible originate from either the mesothelium or the submesothelium. This is why such tumors are described in the literature as fibroma of the pleura, mesothelial fibroma, localized fibrous mesothelioma and monophasic spindle cell tumor. Their growth, is very slow taking several years or even decades. In contrast to the more common malignant mesothelioma of the pleura, it is not related to asbestos exposure. This report deals with a 47-year-old woman patient with a giant benign mesothelioma of the pleura in the region of the right thorax, which was completely removed by thoracotomy.     

Necrotizing fasciitis: apropos of a case

Necrotizing fasciitis is an infection which involves soft tissues up to the fascia, with wide areas of necrosis, and is mainly caused by group A beta-hemolytic Streptococcus. The Authors report a case recently observed and after an accurate review of the Literature, taking into account the most recent pathogenetic knowledges, confirm the necessity of an early diagnosis based on clinical criteria but above all on histological biopsy. The treatment is mainly surgical, and allows, together with the medical treatment, to subdue the rapid progression of the infection which notwithstanding maintains an high mortality rate.     

Muscular sarcoidosis: apropos of a case

We report the case of a 75-year old woman presenting sarcoid myopathy with pseudohypertrophy and skin involvement. Muscular biopsy confirmed the diagnosis of sarcoidosis. Symptomatic muscle involvement in sarcoidosis is rare. Three forms are described: myopathic, myositic and nodular. The relevance of imaging techniques is reviewed. Treatment is based on corticotherapy which is less efficient in myopathic form and in this case we had to use methotrexate with success.     

Sub-pleural lipoma: apropos of a case]

The pyomyositis is still being a rare disease in our environment. A review of this illness is made as a result of a new case, which shows some peculiarities that differ it from others published previously: the patient showed a basic medullary carcynoma of thyroid with cerebral metastasis and the responsible germ was a Streptococcus pneumoniae. The immunodepressor factors which are presented at most patients who suffer a pyomyositis, the clinic picture so suggestive and the image methods we dispose nowadays, should serve to suspect its diagnostic in an earlier way, proceeding to its bacteriological confirmation before illness evolves to stages as advanced as in the shown case.     

Familial lymphohistiocytic hemophagocytosis: apropos of a case

In the second of a three-part series, the author draws further on the Sainsbury Centre for Mental Health's Acute Care In-Patient study for a critical look at life as a patient on an acute psychiatric ward.     

Multifocal bone tuberculosis: apropos of a case

OBJECTIVE: To review recent experience of gastroschisis at the Royal Children's Hospital, Melbourne. METHODOLOGY: Retrospective review of admissions over a 13 year period, June 1980-June 1993 inclusive, including an analysis of those factors influencing mortality, morbidity and complications. RESULTS: There were 49 infants, of whom two died (4%), both having an associated bowel atresia. Mode of delivery, age at operative repair, birthweight centile and silo repair had no significant effect on the duration of total parenteral nutrition (TPN) or hospital stay. The presence of short gut and/or gut resection and localized bowel narrowing or bowel atresia resulted in a significant increase in the duration of TPN and hospital stay. The presence of a central venous line was a highly significant risk factor for the development of systemic sepsis. CONCLUSION: Currently gastroschisis has a good outlook with a low mortality. Infants with short gut/resection and bowel atresia have a long duration of TPN and hospitalization, with significant morbidity and complications.     

Carcinoma of Bellini's ducts: apropos of a case

OBJECTIVE: To report an additional case of collecting duct carcinoma of the kidney, known as carcinoma of Bellini. METHODS/RESULTS: A 65-year-old male patient was admitted for left renal pain. An ultrasound scan showed a solid right renal mass. The patient underwent extended radical nephrectomy. Pathological analysis of the surgical specimen disclosed carcinoma of Bellini. The patient is asymptomatic 18 months postoperatively. CONCLUSIONS: Carcinoma of Bellini is an uncommon tumor type arising from the collecting duct cells and accounts for 0.5%-2% of all renal tumors.