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Studies of the Sanfilippo variety of mucopolysaccharidosis
154
THE COLLEGE OF PATHOLOGISTS O F AUSTRALIA
The benign tumours included 5 examples of adenoma, 4 of leiomyoma, 2 of lipoma, 2 of lymphangioma and 1 of haemangioma. There were 31 primary malignant tumours, including 13 examples of argentaffin carcinoma, 11 of adenocarcinoma, 5 of lymphoma, 1 of leiomyosarcoma and 1 of squamous carcinoma. Ten instances of metastatic disease were encountered, seven of which were from melanomata and the other three from lymphomata. The prognosis in the series appeared to be unaffected by the mode of presentation or surgical treatment. STUDIES OF THE SANFILIPPO VARIETY OF MUCOPOLYSACCHARIDOSIS
CAMPBELL, P. E., TAFT,L. I., DANKS,D. M. & KENNEDY, J. C. Royal Children’s Hospital, Melbourne, Victoria Atypical varieties of ‘Hurler’s syndrome’ may be less obvious clinically than the classical form, despite the presence of abnormal mucopolysaccharides (e.g. heparatin sulphate) in their urine. One of these, the Sanfilippo variant, is nevertheless associated with mental retardation; a characteristic facies, build, and temperament ;and with hepatomegaly and radiological features. The most useful laboratory diagnostic procedures have been bone marrow, skin and liver biopsies. Accumulation of mucopolysaccharide has been most prominent in the liver, but is also visible in connective and reticulo-endothelial tissue. The conventionally described methods of fixation of tissue mucopolysaccharide proved unsatisfactory. Cryostat sections fixed either with formol vapour or cold acetone and stained with either alcoholic or aqueous toluidine blue or with alcian blue were found to be satisfactory in demonstrating this substance, part of which appeared to be particularly soluble in water. RHABDOMYOLYSIS I N HEAT STROKE
BALE,PATRICIA M., CALVERT, A. F. & CLIFTON-BLIGH, P. A‘ez South Wales
Sydney Hospital,
Heat stroke has been known since biblical times, and muscular exertion has long been recognized as a precipitating factor. However, muscle has seldom been examined histologically in heat stroke. The authors have studied two patients who collapsed after strenuous exertion on a sultry summer day, and were treated by repeated dialyses for oliguria and refractory hyperkalaemia. One died after five days and the other recovered. Skeletal muscles examined at necropsy from the first patient and by biopsy from the second, all showed necrosis of many fibres and central vacuolation of others. Although muscle necrosis has been noticed in only nine of the many cases of heat stroke in the English medical literature, the frequency of renal failure with so-called ‘haemoglobinuric’ nephrosis suggests that rhabdomyolysis is a common occurrence. We consider that it may be an important cause of systemic disturbances and especially of serum potassium alterations in exertional heat stroke. THE DEVELOPMENT OF GLOMERULONEPHRITIS I N NZB/NZW MICE
HICKS, J. D.
Royal Melbourne Hospital, Victoria
From a study of the mortality of female B/W mice an estimate was made that the onset of the disease probably lay between 100-150 days. This was supported by a study of other phenomena such as the development of proteinuria and of azotaemia. T h e study of immunological reactions revealed an increase in positive tests during this same period. Examination of histological material obtained by nephrectomy demonstrated changes which commenced in the glomeruli at about 150 days, with the development of a cellular glomerulonephritis during the next 20 days. This proceeded to the typical lesion of gross glomerular damage with extensive hyaline exudate and loop thickening, together with considerable capsular proliferation within the next 50-100 days. Somewhat varied accounts have been given of electron microscope studies, and features seen have been likened to the changes in nephrotoxic serum nephritis as well as to the lesions seen in antigenantibody complex nephritis. The author found deposits mainly on the subendothelial side of the basement membrane in early phases of the spontaneous disease. Subepithelial deposits were present in Masugi nephritis, were minimal in the spontaneous disease and appeared no more frequently at 150 days than in much younger mice. Similar, apparently sporadic changes were found in the basement membrane in young
THE COLLEGE OF PATHOLOGISTS O F AUSTRALIA
The benign tumours included 5 examples of adenoma, 4 of leiomyoma, 2 of lipoma, 2 of lymphangioma and 1 of haemangioma. There were 31 primary malignant tumours, including 13 examples of argentaffin carcinoma, 11 of adenocarcinoma, 5 of lymphoma, 1 of leiomyosarcoma and 1 of squamous carcinoma. Ten instances of metastatic disease were encountered, seven of which were from melanomata and the other three from lymphomata. The prognosis in the series appeared to be unaffected by the mode of presentation or surgical treatment. STUDIES OF THE SANFILIPPO VARIETY OF MUCOPOLYSACCHARIDOSIS
CAMPBELL, P. E., TAFT,L. I., DANKS,D. M. & KENNEDY, J. C. Royal Children’s Hospital, Melbourne, Victoria Atypical varieties of ‘Hurler’s syndrome’ may be less obvious clinically than the classical form, despite the presence of abnormal mucopolysaccharides (e.g. heparatin sulphate) in their urine. One of these, the Sanfilippo variant, is nevertheless associated with mental retardation; a characteristic facies, build, and temperament ;and with hepatomegaly and radiological features. The most useful laboratory diagnostic procedures have been bone marrow, skin and liver biopsies. Accumulation of mucopolysaccharide has been most prominent in the liver, but is also visible in connective and reticulo-endothelial tissue. The conventionally described methods of fixation of tissue mucopolysaccharide proved unsatisfactory. Cryostat sections fixed either with formol vapour or cold acetone and stained with either alcoholic or aqueous toluidine blue or with alcian blue were found to be satisfactory in demonstrating this substance, part of which appeared to be particularly soluble in water. RHABDOMYOLYSIS I N HEAT STROKE
BALE,PATRICIA M., CALVERT, A. F. & CLIFTON-BLIGH, P. A‘ez South Wales
Sydney Hospital,
Heat stroke has been known since biblical times, and muscular exertion has long been recognized as a precipitating factor. However, muscle has seldom been examined histologically in heat stroke. The authors have studied two patients who collapsed after strenuous exertion on a sultry summer day, and were treated by repeated dialyses for oliguria and refractory hyperkalaemia. One died after five days and the other recovered. Skeletal muscles examined at necropsy from the first patient and by biopsy from the second, all showed necrosis of many fibres and central vacuolation of others. Although muscle necrosis has been noticed in only nine of the many cases of heat stroke in the English medical literature, the frequency of renal failure with so-called ‘haemoglobinuric’ nephrosis suggests that rhabdomyolysis is a common occurrence. We consider that it may be an important cause of systemic disturbances and especially of serum potassium alterations in exertional heat stroke. THE DEVELOPMENT OF GLOMERULONEPHRITIS I N NZB/NZW MICE
HICKS, J. D.
Royal Melbourne Hospital, Victoria
From a study of the mortality of female B/W mice an estimate was made that the onset of the disease probably lay between 100-150 days. This was supported by a study of other phenomena such as the development of proteinuria and of azotaemia. T h e study of immunological reactions revealed an increase in positive tests during this same period. Examination of histological material obtained by nephrectomy demonstrated changes which commenced in the glomeruli at about 150 days, with the development of a cellular glomerulonephritis during the next 20 days. This proceeded to the typical lesion of gross glomerular damage with extensive hyaline exudate and loop thickening, together with considerable capsular proliferation within the next 50-100 days. Somewhat varied accounts have been given of electron microscope studies, and features seen have been likened to the changes in nephrotoxic serum nephritis as well as to the lesions seen in antigenantibody complex nephritis. The author found deposits mainly on the subendothelial side of the basement membrane in early phases of the spontaneous disease. Subepithelial deposits were present in Masugi nephritis, were minimal in the spontaneous disease and appeared no more frequently at 150 days than in much younger mice. Similar, apparently sporadic changes were found in the basement membrane in young