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Oncocytic cardiomyopathy, fitting and sudden death
POSTERS MORPHOMETRIC ANALYSIS OF THE BONE GROWTH PLATE IN SUDDEN INFANT DEATH SYNDROME. RW Byard*. N Fazzalari, A Moore, S Byers. Depts of Histopathology & Chemical Pathology, Women's and Children's Hospital, Dept of Tissue Pathology, Institute of Medical and Veterinary Science. Adelaide, Australia. It has been proposed that maturational delay and suboptimal growth may increase the risk of sudden death in early life. however, estimates of the percentage of growth-retarded infants in the SIDS group have varied widely. While other growth parameters have been examined in detail, morphometric assessment of the growth plate has not been performed to any extent in these infants. In this study rib growth plates from 20 randomly chosen SIDS infants and 20 age-matched controls were decalcified. multiply sectioned and stained with acid-fuschin. Each section was analysed at x20 objective magnification with a 1 Ox1 0 eyepiece graticule aligned parallel to the growth plate interface. The volume fraction of cartilage and bone together with the number of cartilagenous and bone trabeculae per unit length of growth plate were measured to a depth of seven grid lengths from the starting point, Using this protocol the growth plate trabecular structure was sampled systematically at 0.18mm intervals to a depth of approximately 4mm. No differences were found between the SIDS group and the controls in cartilage/bone volume. However. numbers of cartilage/bone trabeculae per unit length were found to be significantly different in the hypertrophic zone of the growth plate (p
A SURVEY OF COOGENITAL BRAIN TUMOURS Or D Taylor & Or A Tannenberg, Pathology Department,
Mater Misericordiae Hospital, South Brisbane, Qld. 4101. A survey of all brain turrours diagnosed in children under the age of one year in Queensland., was undertaken over a retrospective 10 year period. 19 tumours were identified and the clinical and pathological features reviewed. The most cannon presenting symptan was an enlarging head and the average delay between symptans and diagnosis was three months. There was a predaninance (58%) of supratentorial tumours with the majority of these (64%) being in the cerebral hemispheres. Entities of benign/low grade behaviour encountered were: Juvenile pilocytic astrocytana (5 cases) arising in hypothalanus (2), optic nerve (1), cerebellum (1), and temporal lobe (1); gangliogliana (2); desmoplastic supratentorial tumour of infancy (1); low grade astrocytana (1). Entities of intennediate grade were:
Ependymana (2).
Entities of high malignancy were: Medulloblastana (5); choroid plexus 'carcinana (2); malignant teratana (1). The progress was highly predictable depending on the diagnosis. All low grade/benign tumours are alive. with extended follow up, including the single case of the desmoplastic supratentorial turrour of infancy. The ependymanas survived for a mean of 22 months but ultimately died of disease. All the malignant groups died within a few months. The results were independent of the treatment modality.
ONCOCYTIC CARDIOMYOPATHY, FITTING AND SUDDEN DEATH.
J Stahl', RW Byard, Departments of Histopathology, Flinder's Medical Centre & Adelaide Children's Hospital Division of the Women's and Children's Hospital, Adelaide, SA, 5006. Oncocytic cardiomyopathy is a rare form of cardiac disease which has also been described as "foamy transformation of the myocardium", "histiocytoid cardiomyopathy" or "xanthomatous cardiomyopathy". It typically affects girls under the age of two years and can present with ventricular tachycardia and/or cardiomegaly. A 15-month-old girl is reported who presented with a history of 'drop attacks', vomiting and unexpected death in hospital following episodic grand mal fitting associated with cardiac arrhythmias. Autopsy revealed subendocardial nodular elevations in the left ventricle and within the tricuspid and mitral valves composed of aggregated large cells with foamy, pale pink cytoplasm characteristic of oncocytic cardiomyopathy. Electron microscopic examination revealed numerous irregular mitochondria within affected cells. Although the macroscopic, microscopiC and ultrastructural findings in the reported case are quite characteristic. the clinical presentation of grand mal fitting secondary to arrhythmia-induced hypoxia is unusual. The combination of cardiac and cerebral symptoms had prompted an initial clinical assumption of an infective cause rather than primary cardiac pathology. although another differential diagnosis to consider in such cases would be tuberous sclerosis. This case illustrates that oncocytic cardiomyopathy. though rare, should be included in the differential diagnosis of sudden death in young children. The presentation may, however, be atypical with cerebral symptoms and signs occurring secondary to cardiac rhythm disturbances.
DETECTION OF MONOSOMY 7 MINIMAL RESIDUAL DISEASE IN CHILDHOOD ALL USING FLUORESCENCE IN SITU HYBRIDISATION Robson L (1), Tembe V (1), Sbanna P 0), Sbaw PI (2), Stevens M (2). Smith A (1)*. (1) Cytogenetics Unit; Children's Hospital, Camperdown, Sydney.(2) Oncology Dept; Children's Hospital, Camperdown, Sydney. A 7 year old boy was diagnosed with acute lymphoblastic leukaemia (ALL). Bone marrow karyotype at diagnosis revealed 46,XY[3]/5456,XY, +X, +B, +B, +C, +C, +D,+17,+i(l7q), + 18, + 21[cpl0] characteristic of hyperdiploid ALL. Five months after completing a 2 year course of chemotherapy he presented with progressive neutropenia and immunophenotyping suggested a secondary AML rather than relapse of ALL. The finding of a monosamy 7 cell line - 46,XY [6]/45,XY,-7[15] supported this being a secondary, possibly therapy induced, AML. Minimal residual disease (MRD) for monosomy 7 was monitored during management of the patient using cytogenetic and FISH methods. Over a 7 month period, 5 bone marrow specimens were evaluated, 3 from culture of metaphase spreads and 2 from direct smears by interpbase analysis. The probes used were library 7 (Coatsome 7) and a cocktail of 7 centromere with 7 telomere (Oncor). Results from tbe direct smears were inconclusive. A single signal may L~ indicative of monosomy 7 but could reflect lack of hybridisation and/or detection. This is a known inherent limitation of the technique. Results from the cultured bone marrow showed that FISH was successful in all preparations. Interphase FISH is not sensitive enough for use in detecting MRD of monosomies. However FISH on cultured preparations gave an indication of MRD because more metaphases could be examined and included those suboptimal for routine cytogenetic analysis.
A SURVEY OF COOGENITAL BRAIN TUMOURS Or D Taylor & Or A Tannenberg, Pathology Department,
Mater Misericordiae Hospital, South Brisbane, Qld. 4101. A survey of all brain turrours diagnosed in children under the age of one year in Queensland., was undertaken over a retrospective 10 year period. 19 tumours were identified and the clinical and pathological features reviewed. The most cannon presenting symptan was an enlarging head and the average delay between symptans and diagnosis was three months. There was a predaninance (58%) of supratentorial tumours with the majority of these (64%) being in the cerebral hemispheres. Entities of benign/low grade behaviour encountered were: Juvenile pilocytic astrocytana (5 cases) arising in hypothalanus (2), optic nerve (1), cerebellum (1), and temporal lobe (1); gangliogliana (2); desmoplastic supratentorial tumour of infancy (1); low grade astrocytana (1). Entities of intennediate grade were:
Ependymana (2).
Entities of high malignancy were: Medulloblastana (5); choroid plexus 'carcinana (2); malignant teratana (1). The progress was highly predictable depending on the diagnosis. All low grade/benign tumours are alive. with extended follow up, including the single case of the desmoplastic supratentorial turrour of infancy. The ependymanas survived for a mean of 22 months but ultimately died of disease. All the malignant groups died within a few months. The results were independent of the treatment modality.
ONCOCYTIC CARDIOMYOPATHY, FITTING AND SUDDEN DEATH.
J Stahl', RW Byard, Departments of Histopathology, Flinder's Medical Centre & Adelaide Children's Hospital Division of the Women's and Children's Hospital, Adelaide, SA, 5006. Oncocytic cardiomyopathy is a rare form of cardiac disease which has also been described as "foamy transformation of the myocardium", "histiocytoid cardiomyopathy" or "xanthomatous cardiomyopathy". It typically affects girls under the age of two years and can present with ventricular tachycardia and/or cardiomegaly. A 15-month-old girl is reported who presented with a history of 'drop attacks', vomiting and unexpected death in hospital following episodic grand mal fitting associated with cardiac arrhythmias. Autopsy revealed subendocardial nodular elevations in the left ventricle and within the tricuspid and mitral valves composed of aggregated large cells with foamy, pale pink cytoplasm characteristic of oncocytic cardiomyopathy. Electron microscopic examination revealed numerous irregular mitochondria within affected cells. Although the macroscopic, microscopiC and ultrastructural findings in the reported case are quite characteristic. the clinical presentation of grand mal fitting secondary to arrhythmia-induced hypoxia is unusual. The combination of cardiac and cerebral symptoms had prompted an initial clinical assumption of an infective cause rather than primary cardiac pathology. although another differential diagnosis to consider in such cases would be tuberous sclerosis. This case illustrates that oncocytic cardiomyopathy. though rare, should be included in the differential diagnosis of sudden death in young children. The presentation may, however, be atypical with cerebral symptoms and signs occurring secondary to cardiac rhythm disturbances.
DETECTION OF MONOSOMY 7 MINIMAL RESIDUAL DISEASE IN CHILDHOOD ALL USING FLUORESCENCE IN SITU HYBRIDISATION Robson L (1), Tembe V (1), Sbanna P 0), Sbaw PI (2), Stevens M (2). Smith A (1)*. (1) Cytogenetics Unit; Children's Hospital, Camperdown, Sydney.(2) Oncology Dept; Children's Hospital, Camperdown, Sydney. A 7 year old boy was diagnosed with acute lymphoblastic leukaemia (ALL). Bone marrow karyotype at diagnosis revealed 46,XY[3]/5456,XY, +X, +B, +B, +C, +C, +D,+17,+i(l7q), + 18, + 21[cpl0] characteristic of hyperdiploid ALL. Five months after completing a 2 year course of chemotherapy he presented with progressive neutropenia and immunophenotyping suggested a secondary AML rather than relapse of ALL. The finding of a monosamy 7 cell line - 46,XY [6]/45,XY,-7[15] supported this being a secondary, possibly therapy induced, AML. Minimal residual disease (MRD) for monosomy 7 was monitored during management of the patient using cytogenetic and FISH methods. Over a 7 month period, 5 bone marrow specimens were evaluated, 3 from culture of metaphase spreads and 2 from direct smears by interpbase analysis. The probes used were library 7 (Coatsome 7) and a cocktail of 7 centromere with 7 telomere (Oncor). Results from tbe direct smears were inconclusive. A single signal may L~ indicative of monosomy 7 but could reflect lack of hybridisation and/or detection. This is a known inherent limitation of the technique. Results from the cultured bone marrow showed that FISH was successful in all preparations. Interphase FISH is not sensitive enough for use in detecting MRD of monosomies. However FISH on cultured preparations gave an indication of MRD because more metaphases could be examined and included those suboptimal for routine cytogenetic analysis.