Biomedical subjects
Publications and source records attributed to P Brochu.
The first Canadian child with complete absence of alpha L-fucosidase is described. The neurological course was characterised by rapid deterioration and he died at the earliest age recorded so far. There are only two published reports of autopsies in this condition to which we add another, together with the ultrastructural findings of a liver biopsy.
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Severe disseminated lung disease causing acute respiratory failure developed in a previously healthy 6 1/2-year-old boy. Mycoplasma pneumoniae was implicated and a complement-fixing antibody titre of 1:1024 against this organism was detected. At autopsy bronchiectasis was found, affecting chiefly the right middle and lower lobes. The unusual radiologic and pathologic findings are discussed.
Rectal biopsy material from a patient with type 4 glycogenosis was studied by ultrastructural cytochemical methods. The diagnosis of the disease was made on the basis of the patient's clinical history, the autopsy findings, and the histopathological features. Numerous large macrophages were observed in the rectal mucosa. They contained large vacuoles filled with filamentous material and small granules. This amylopectin was stained by the Thiery method (periodic acid-thiocarbohydrazide-silver proteinate) after 18 hours of exposure to thiocarbohydrazide; only 30 minutes was sufficient to demonstrate seemingly normal beta-glycogen particles in epithelial cells.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
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Autoimmune enteropathy (AIE) is an entity reported primarily in infancy, resulting in intractable diarrhea and associated with small bowel villous atrophy and the presence of circulating anti-enterocyte (AEA) antibodies. It is a multisystem disorder with a response, in many cases, to immunosuppressive therapy.
Four patients with total aganglionosis of the intestine had renal abnormalities. Two patients had cortical subcapsular cysts, one had unilateral renal agenesis and one other had unilateral renal dysplasia. The consistency of renal anomalies with total aganglionosis suggests the presence of a common genetic origin.
The authors report the case of a 5 year-old girl who died from primary Epstein-Barr virus infection while in remission from acute lymphoblastic leukemia. There was a diffuse, polymorphic and polyclonal proliferation of B lymphocytes, associated with a strong histiocytic reaction with hemophagocytosis. The role of Epstein-Barr virus was ascertained by the appearance of specific antibodies and the finding of EBNA antigen on liver smear.
We describe a 12 year-old patient that relapsed into fulminant non A, non B, non C (NANBNC) hepatitis 10 weeks post-clinical recovery. A complete clinical and pathological evaluation, including an ultra-structural examination of a liver biopsy was consistent with the diagnosis of NANBNC hepatitis. The patient relapsed into hepatic failure and required transplantation. NANBNC hepatitis may have a relapsing form that can lead to hepatic failure requiring transplantation. Consultants in hepatology should have a high degree of clinical awareness and maintain prolonged patient follow-up.