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Congenital cystic disease of the lung
ABSTRACTS OF ANNUAL MEETING 1977
193
There were focal plasmacytic interstitial infiltrates. Mitoses were seen in interstitial cells, and interstitial collagen and elastic tissue were increased in the animals killed late in the experiment. CHROMOSOME STUDIES AT THE PAEDlATRlC NECROPSY
SUTHERLAND, G. R., BAIN,A. D., BOURNE, A. J. & CARTER, F. R. Histopathology Department, Adelaide Children ‘s Hospital and Department of Pathology, Royal Hospital for Sick Children, Edinburgh Chromosome studies by fibroblast culture of autopsy material were attempted on 762 perinatal deaths seen over a 4yr period. Results were obtained from 593 (77.8%)cases; the main reasons for failure were maceration and infection. Results from macerated foetuses can usually only be obtained by culture of the placental amnion, but even this does not always produce results. Twenty-eight (4.7%) major chromosome abnormalities were detected, the most common being trisomy 18. Clinical studies of these infants suggest that trisomy 18 is underdiagnosed as the malformations may be so severe as to obscure the diagnosis. Over the same period, chromosome results from 153 other autopsies made up of 27 late (spontaneous) abortions and 126 children aged more than 28 days, were obtained and 13 (8.5%) were found to have major chromosome abnormalities. Chromosome study was introduced as a routine procedure at the Adelaide Children’s Hospital in May 1975. Results obtained to date from 290 successful studies have revealed that 15 (5.2%) had a major chromosome abnormality. The data are analysed according to age and cause of death. It is concluded that chromosome study should become an integral part of all perinatal autopsies, and, whenever possible, of other paediatric autopsies as well. ALOBAR HOLOPROSENCEPHALY ASSOCIATED WITH GENETIC ABNORMALITY
BELL,J. R. Department of Pathology, Mater Misericordiae Public Hospitals, South Brisbane. Queensland A 23-yr-old primigravida gave birth to a deformed male infant who survived 5 h. Numerous anomalies were noted including alobar holoprosencephaly of premaxillary agenesis type, hydrocephaly, hypoplastic pituitary and adrenals, microphthalmia, bilateral hydro-ureters and hydronephrosis. Cytogenetic studies revealed the following: Father: 46, XY (normal) Mother: 46, XX t(1; 4) ( l q ter + lq 32 :: 4q ter) (balanced translocation) Baby: 46, XY der (4) t(lq ter 4Iq 32 :: 4q ter) (unbalanced translocation) There is thus a 50% chance that any future child will have a similar genetic constitution. The cytogenetic studies are of great relevance and the findings are unique. This patient illustrates the necessity of cytogenetic investigation in the study of malformed infants. CONGENITAL CYSTIC ADENOMATOID MALFORMATION OF THE LUNG
OSTOR,ANDREW G. & FORTUNE, DENYS W. Department of Pathology, The Royal Women’s Hospital, Carlion, Victoria In 8 of 10 infants with congenital cystic adenomatoid malformation of the lung, the pregnancy was complicated by hydramnios. Two were stillborn, all the others died within 3 h of birth and showed respiratory distress. Seven were hydropic. The lesion was always confined to one side, affecting 1 lobe (in 8 cases) and 2 lobes (in 2 cases). The remaining lobe(s) on the same side and the contralateral lung were hypoplastic. On gross examination the appearances were either solid or mixed solid and cystic. Microscopically the solid areas were composed of an ‘adenomatoid’ increase in terminal respiratory structures, which resembled the developing lung of the embryo. The cysts were lined by papillary mucosa. Mucin-secreting epithelium was seen in 5 cases. It was concluded that congenital cystic adenomatoid malformation of the lung is a distinct pathological entity, and separable from other cases of the ‘congenital cystic lung’. CONGENITAL CYSTIC DISEASE OF THE LUNG
BALE,PATRICIA M. Institute of Pathology, Royal Alexandra Hospital for Children, Sydney In 19 cases of congenital cystic disease of the lung, the cysts were always multiple or multilocular and thin-walled. Their walls resembled those of bronchioles with surrounding patches of smooth muscle without cartilage. The cysts
194
ROYAL COLLEGE OF PATHOLOGISTS OF AUSTRALIA
Pathology (1978), 10, April
communicated with bronchi proximally and with alveoli distally suggesting bronchiolectasis. However, there was also proliferation of bronchiolar structures, shown by their increase in number and by papillary overgrowth of the lining epithelium. Bronchiolar proliferation is also a feature of adenomatoid malformation. The 2 terms therefore, may possibly apply to different degrees of the same anomaly, a severe one producing stillbirth or neonatal death, and a milder one allowing survival long enough for successful surgical resection. One third of the children were full-term neonates. one third were aged 1 to 12 mth, and one third I to 10 yr. Fifteen of the specimens were surgical and 4 were necropsies. Half also had emphysema in the affected lobe, and 4 had associated extra lobar sequestration. None was associated with cysts in other organs. Radiologically and macroscopically. the overdistended lobe sometimes mimicked congenital lobar emphysema. All cases with more than focal chronic inflammation were omitted, in order to exclude post inflammatory pneumatoceles. Intrapulmonary bronchogenic cysts and intrapulmonary sequestrations differed in being usually single, often having cartilage and inflammatory fibrosis in their walls, and not having alveoli budding off the cyst. REACTION AGAINST ACTINICALLY-DAMAGED ELASTIN AS A BASIS OF TEMPORAL ARTERlTlS AND INTERNAL VASCULAR DISEASE
O'BRIEK. JOHN P. Medical Centre, Randwick. New Snutli Wales Evidence will be presented indicating the 'age change' and arteritis of the temporal artery are due to actinic damage. I t follows that the internal manifestations of the temporal arteritis/polymyalgia rheumatica syndrome, including its internal vascular complications. might likewise be due. albeit indirectly, to the same actinic cause. A PROPOSED CLASSIFICATION OF BENIGN TUMOURS OF ADIPOSE TISSUE ALLEN.P. W. Insriiuie o / Medicul & Veterinary Science Brunch Luhoraiory, Mount Gambier,
south Ausrruliu Benign fatty tumours fall into one of 5 groups; pure lipomas. benign mixed mesenchymal tumours of adipose tissue, hibernomas, lipoblastomas. and lipomatoses. Pure lipomas can be subdivided into solitary and multiple subcutaneous lipomas, and lipomas of other sites. Benign mixed mesenchymal tumours of adipose tissue can be subdivided into subcutaneous angiolipomas, including solitary. multiple. and multiple familial subcutaneous angiolipomas; subcutaneous fibrolipomas; subcutaneous myxolipomas: subcutaneous chondrolipomas; subcutaneous osteolipomas; mixtures of the preceding types: subcutaneous atypical fibrolipomas; subcutaneous spindle cell lipomas; intramuscular angiolipomas (haemangiomas of skeletal muscle); renal angiomyolipomas; and adrenal and presacral myelolipomas. It is suggested that the subcutaneous tissue is a topographic region in its own right, and that subcutaneous tumours should be considered separately from tumours of the deeper soft tissue. 'THE ESKIMOMA'-AN
UNUSUAL MALIGNANT SALIVARY GLAND TUMOUR
W. Parholog), Departnient. Royal Women'.e Hospital, Brishane Four cases of an unusual salivary gland tumour presented at the Health Science Centre, Winnipeg, Canada during a 5-yr period. from 1971 to 1976. This distinctive tumour was first described in 1963 when 9 cases were identified; 7 further cases were presented from Alaska in 1972. So far. the tumour appears to be confined to the Eskimo and to only involve the parotid gland. Rapidly growing. it metastasizes early to regional nodes and also by blood spread to the lungs, with a high mortality. all 4 cases presented here, having died within 2 yr of presentation. Histologically the lesion resembles the lymphoepithelioma or anaplastic carcinoma of the nasopharynx which has a high incidence in a closely related racial group. the southern Chinese. Differentiation from the benign epithelial lesion and from the salivary glands of Miculicz disease or Sjogren's syndrome is important. Difficulty may also be encountered in differentiation from a malignant histiocytic lymphoma involving the parotid. As the tumour closely resembles the nasopharyngeal carcinoma in which elevated EB virus titres have been found: blood from 2 of the above patients was examined but in neither was significant elevation detected. B I ~ N T I u E , DA\ID
HISTOLOGICAL CHANGES IN THE SKIN OCCURRING IN ANTARCTICA
BODEY,A. S. Purlinlog!. Department, Mercy Maternifj.Hospiial. East Melhourne Studies in human acclimatization to cold have covered a wide range of generalized effects. Skin studies have included changes in vascular responses. and two-point discrimination. Hitherto there have not been any
193
There were focal plasmacytic interstitial infiltrates. Mitoses were seen in interstitial cells, and interstitial collagen and elastic tissue were increased in the animals killed late in the experiment. CHROMOSOME STUDIES AT THE PAEDlATRlC NECROPSY
SUTHERLAND, G. R., BAIN,A. D., BOURNE, A. J. & CARTER, F. R. Histopathology Department, Adelaide Children ‘s Hospital and Department of Pathology, Royal Hospital for Sick Children, Edinburgh Chromosome studies by fibroblast culture of autopsy material were attempted on 762 perinatal deaths seen over a 4yr period. Results were obtained from 593 (77.8%)cases; the main reasons for failure were maceration and infection. Results from macerated foetuses can usually only be obtained by culture of the placental amnion, but even this does not always produce results. Twenty-eight (4.7%) major chromosome abnormalities were detected, the most common being trisomy 18. Clinical studies of these infants suggest that trisomy 18 is underdiagnosed as the malformations may be so severe as to obscure the diagnosis. Over the same period, chromosome results from 153 other autopsies made up of 27 late (spontaneous) abortions and 126 children aged more than 28 days, were obtained and 13 (8.5%) were found to have major chromosome abnormalities. Chromosome study was introduced as a routine procedure at the Adelaide Children’s Hospital in May 1975. Results obtained to date from 290 successful studies have revealed that 15 (5.2%) had a major chromosome abnormality. The data are analysed according to age and cause of death. It is concluded that chromosome study should become an integral part of all perinatal autopsies, and, whenever possible, of other paediatric autopsies as well. ALOBAR HOLOPROSENCEPHALY ASSOCIATED WITH GENETIC ABNORMALITY
BELL,J. R. Department of Pathology, Mater Misericordiae Public Hospitals, South Brisbane. Queensland A 23-yr-old primigravida gave birth to a deformed male infant who survived 5 h. Numerous anomalies were noted including alobar holoprosencephaly of premaxillary agenesis type, hydrocephaly, hypoplastic pituitary and adrenals, microphthalmia, bilateral hydro-ureters and hydronephrosis. Cytogenetic studies revealed the following: Father: 46, XY (normal) Mother: 46, XX t(1; 4) ( l q ter + lq 32 :: 4q ter) (balanced translocation) Baby: 46, XY der (4) t(lq ter 4Iq 32 :: 4q ter) (unbalanced translocation) There is thus a 50% chance that any future child will have a similar genetic constitution. The cytogenetic studies are of great relevance and the findings are unique. This patient illustrates the necessity of cytogenetic investigation in the study of malformed infants. CONGENITAL CYSTIC ADENOMATOID MALFORMATION OF THE LUNG
OSTOR,ANDREW G. & FORTUNE, DENYS W. Department of Pathology, The Royal Women’s Hospital, Carlion, Victoria In 8 of 10 infants with congenital cystic adenomatoid malformation of the lung, the pregnancy was complicated by hydramnios. Two were stillborn, all the others died within 3 h of birth and showed respiratory distress. Seven were hydropic. The lesion was always confined to one side, affecting 1 lobe (in 8 cases) and 2 lobes (in 2 cases). The remaining lobe(s) on the same side and the contralateral lung were hypoplastic. On gross examination the appearances were either solid or mixed solid and cystic. Microscopically the solid areas were composed of an ‘adenomatoid’ increase in terminal respiratory structures, which resembled the developing lung of the embryo. The cysts were lined by papillary mucosa. Mucin-secreting epithelium was seen in 5 cases. It was concluded that congenital cystic adenomatoid malformation of the lung is a distinct pathological entity, and separable from other cases of the ‘congenital cystic lung’. CONGENITAL CYSTIC DISEASE OF THE LUNG
BALE,PATRICIA M. Institute of Pathology, Royal Alexandra Hospital for Children, Sydney In 19 cases of congenital cystic disease of the lung, the cysts were always multiple or multilocular and thin-walled. Their walls resembled those of bronchioles with surrounding patches of smooth muscle without cartilage. The cysts
194
ROYAL COLLEGE OF PATHOLOGISTS OF AUSTRALIA
Pathology (1978), 10, April
communicated with bronchi proximally and with alveoli distally suggesting bronchiolectasis. However, there was also proliferation of bronchiolar structures, shown by their increase in number and by papillary overgrowth of the lining epithelium. Bronchiolar proliferation is also a feature of adenomatoid malformation. The 2 terms therefore, may possibly apply to different degrees of the same anomaly, a severe one producing stillbirth or neonatal death, and a milder one allowing survival long enough for successful surgical resection. One third of the children were full-term neonates. one third were aged 1 to 12 mth, and one third I to 10 yr. Fifteen of the specimens were surgical and 4 were necropsies. Half also had emphysema in the affected lobe, and 4 had associated extra lobar sequestration. None was associated with cysts in other organs. Radiologically and macroscopically. the overdistended lobe sometimes mimicked congenital lobar emphysema. All cases with more than focal chronic inflammation were omitted, in order to exclude post inflammatory pneumatoceles. Intrapulmonary bronchogenic cysts and intrapulmonary sequestrations differed in being usually single, often having cartilage and inflammatory fibrosis in their walls, and not having alveoli budding off the cyst. REACTION AGAINST ACTINICALLY-DAMAGED ELASTIN AS A BASIS OF TEMPORAL ARTERlTlS AND INTERNAL VASCULAR DISEASE
O'BRIEK. JOHN P. Medical Centre, Randwick. New Snutli Wales Evidence will be presented indicating the 'age change' and arteritis of the temporal artery are due to actinic damage. I t follows that the internal manifestations of the temporal arteritis/polymyalgia rheumatica syndrome, including its internal vascular complications. might likewise be due. albeit indirectly, to the same actinic cause. A PROPOSED CLASSIFICATION OF BENIGN TUMOURS OF ADIPOSE TISSUE ALLEN.P. W. Insriiuie o / Medicul & Veterinary Science Brunch Luhoraiory, Mount Gambier,
south Ausrruliu Benign fatty tumours fall into one of 5 groups; pure lipomas. benign mixed mesenchymal tumours of adipose tissue, hibernomas, lipoblastomas. and lipomatoses. Pure lipomas can be subdivided into solitary and multiple subcutaneous lipomas, and lipomas of other sites. Benign mixed mesenchymal tumours of adipose tissue can be subdivided into subcutaneous angiolipomas, including solitary. multiple. and multiple familial subcutaneous angiolipomas; subcutaneous fibrolipomas; subcutaneous myxolipomas: subcutaneous chondrolipomas; subcutaneous osteolipomas; mixtures of the preceding types: subcutaneous atypical fibrolipomas; subcutaneous spindle cell lipomas; intramuscular angiolipomas (haemangiomas of skeletal muscle); renal angiomyolipomas; and adrenal and presacral myelolipomas. It is suggested that the subcutaneous tissue is a topographic region in its own right, and that subcutaneous tumours should be considered separately from tumours of the deeper soft tissue. 'THE ESKIMOMA'-AN
UNUSUAL MALIGNANT SALIVARY GLAND TUMOUR
W. Parholog), Departnient. Royal Women'.e Hospital, Brishane Four cases of an unusual salivary gland tumour presented at the Health Science Centre, Winnipeg, Canada during a 5-yr period. from 1971 to 1976. This distinctive tumour was first described in 1963 when 9 cases were identified; 7 further cases were presented from Alaska in 1972. So far. the tumour appears to be confined to the Eskimo and to only involve the parotid gland. Rapidly growing. it metastasizes early to regional nodes and also by blood spread to the lungs, with a high mortality. all 4 cases presented here, having died within 2 yr of presentation. Histologically the lesion resembles the lymphoepithelioma or anaplastic carcinoma of the nasopharynx which has a high incidence in a closely related racial group. the southern Chinese. Differentiation from the benign epithelial lesion and from the salivary glands of Miculicz disease or Sjogren's syndrome is important. Difficulty may also be encountered in differentiation from a malignant histiocytic lymphoma involving the parotid. As the tumour closely resembles the nasopharyngeal carcinoma in which elevated EB virus titres have been found: blood from 2 of the above patients was examined but in neither was significant elevation detected. B I ~ N T I u E , DA\ID
HISTOLOGICAL CHANGES IN THE SKIN OCCURRING IN ANTARCTICA
BODEY,A. S. Purlinlog!. Department, Mercy Maternifj.Hospiial. East Melhourne Studies in human acclimatization to cold have covered a wide range of generalized effects. Skin studies have included changes in vascular responses. and two-point discrimination. Hitherto there have not been any