Case 8. Enteric duplication cyst of duodenum: cause of polyhydramnios in an 18-trisomic male fetus.
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Chromosome Aberrations↗
Biomedical subjects
G A Machin
Publications and source records attributed to G A Machin.
Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred.
A patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia. Two other families each have one or the other of these diseases but not both. The three families are distantly related.
Cartilage↗
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds.
We present clinical findings in infants from three kindreds (two Hutterite and one Mennonite) with an apparently unique, fatal disorder. The major manifestations consist of severe intrauterine growth retardation, congenital contractures, and tense skin which is easily eroded. The skin is tightly drawn over the face, giving an abnormal appearance consisting of a narrow, pinched nose, small mouth, limited jaw mobility, and ectropion (in one). One infant had first-degree hypospadias. Apart from this, there were no organ malformations and the infants did not have hydrops. Histologically, the skin showed hyperkeratosis. It is postulated that this is a tissue dysplasia and that all of the clinical effects are secondary. The disorder appears to be an autosomal recessive trait. The two Hutterite families are from different endogamous subdivisions. They are related as fourth cousins once-removed and fifth cousins in multiple ways through the six nearest common ancestors of all four parents. There are 25 founders (11 couples and three individuals) who are common ancestors. We computed the probability of joint descent of the four alleles in each pair of parents and in a sample of Alberta Hutterite couples, assuming that each of the common founders in turn was the original carrier. For an allele from one particular founder couple, there is a relatively greater probability of identity by descent for each pair of parents than on the average for other couples of the same endogamous subdivision.
Abnormalities, Multiple↗
Monozygotic twin aborted fetuses discordant for holoprosencephaly/synotia.
A pair of monozygotic twin fetuses aborted at 15 weeks were found to be discordant for holoprosencephaly and synotia. They were studied grossly, radiologically, and histologically. Features of first brancial arch dysplasia (synotia, agnathia, and astomia) and holoprosencephaly (absent ethmoid bone and Rathke's pouch) observed in one twin were contrasted with minimal dysmorphology in the co-twin. Some evidence of the twin transfusion syndrome was also apparent, perhaps contributing to the twins' spontaneous abortion.
Abnormalities, Multiple↗
Diseases causing fetal and neonatal ascites.
Causes of fetal ascites are reviewed, and 3 new cases are reported. A protocol is suggested for intrauterine investigation of the spectrum of diseases causing fetal ascites. There is some overlap with causes of hydrops fetalis.
Amniotic Fluid↗
Sulfasalazine-induced colitis complicating idiopathic ulcerative colitis.
A diagnosis of idiopathic ulcerative colitis was made in a previously healthy 9-year-old boy. Symptoms persisted despite therapy with sulfasalazine, 50 mg/kg daily, but they eventually responded to treatment with parenteral nutrition and prednisone, 40 mg daily. Metronidazole was also given to eradicate persistent Dientamoeba fragilis from the stools. The symptoms resolved over 3 weeks, and the daily dose of prednisone was tapered. On two subsequent occasions a challenge with sulfasalazine caused an immediate recurrence of loose, blood-streaked stools and of nonspecific histologic features of ulcerative colitis, which resolved when the sulfasalazine was discontinued.
Child↗
A new precursor lesion of Wilms' tumour (nephroblastoma): intralobar multifocal nephroblastomatosis.
Almost half of the kidneys containing Wilms' tumours also contain persistent renal blastema in one or more of its forms. Persistent renal blastema is present in almost all cases of bilateral nephroblastoma. Multifocal superficial nephroblastemomatosis is the best known form of persistent renal blastema, and there is good evidence that it is a precursor of nephroblastoma. This paper reports four cases of a second, deep cortical type of nephroblastomatosis. This type of persistent renal blastema appears to be a precursor of a distinct histologic subtype of nephroblastoma, and differs from multifocal superficial nephroblastomatosis also in its teratological background.
Child↗
Fetal deformation caused by uterine malformation.
Two fetuses are described in whom deformation was caused by uterine malformation (bicornuate uterus). It is necessary to distinguish between fetal malformation and deformation, since the latter type of anomaly indicates that the uterine environment is distorted. Correction of this uterine malformation can significantly improve the prospects for future pregnancies.
Adult↗
Lung perforation by chest tubes in the neonate.
In 272 consecutive neonatal autopsies in one institution, 70 patients had had intercostal drainage tubes inserted to treat air leak secondary to pulmonary disease. In 9 of these cases, one or more chest tubes penetrated lung parenchyma. The majority of these occurred in infants less than 36 weeks' gestation with hyaline membrane disease and its sequelae. Laceration of lung parenchyma most commonly occurred when tubes were inserted on the left side at 5 days or later and when multiple tubes were inserted.
Drainage↗
Prenatal sonographic detection of congenital mesoblastic nephroma in a monozygotic twin pregnancy.
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Adult↗
Phenotypic heterogeneity of human T-cell malignancies: demonstration by monoclonal antibodies and cytochemical markers.
The present study sought to delineate the phenotypic heterogeneity of the human T-cell malignancies. Twenty T-cell neoplasms were investigated for reactivity with the OKT hybridoma monoclonal antibodies and expression of acid alpha-naphthyl acetate esterase (ANAE), beta-glucuronidase (BG), and acid phosphatase (AP) activity. Twelve cases (Mycosis fungoides, Sezary syndrome, cutaneous T-cell lymphoma, chronic lymphocytic leukemia) were OKT3'T4', ie, expressed the phenotype commonly associated with mature T-helper cells. These cases were further divisible into ANAE+BG+ (6 cases), ANAE-BG+ (5 cases), and ANAE-BG- (1 case) phenotypes. In contrast to the 12 OKT3+T4+ cases, the remaining 8 cases showed considerable inter- and intratumor heterogeneity with respect to reactivity with the OKT antibodies. Six of these cases (acute lymphoblastic leukemia, lymphoblastic lymphoma) expressed phenotypes consistent with various intrathymic stages of T-cell differentiation. Five of the latter 6 cases were AP+BG+ANAE-, analogous to the majority of normal cortical thymocytes; an OKT3+T4-T8+T10+ neoplasm was ANAE+, analogous to normal medullary thymocytes. Two cases expressed the previously undescribed OKT3+T4-T8-T10+ phenotype. These studies demonstrate that the T-cell malignancies are divisible into phenotypes which correspond to normal maturational stages of T-cell differentiation and functionally distinct T-cell subsets. Phenotypic analysis of the human T-cell malignancies may provide a basis for understanding their biological heterogeneity and may aid in the identification of transitional stages of T-cell differentiation and minor T-cell subsets.
Adolescent↗
Differential diagnosis of hydrops fetalis.
Apart from isoimmunization, a number of conditions may present as hydrops fetalis and now account for a large proportion of hydropic infants. A large differential diagnosis must be considered when investigating the hydropic fetus and placenta while in utero, in the neonatal period, and at autopsy. An investigative protocol is proposed.
Diagnosis, Differential↗
Investigation of acephalus.
We report twins, one of whom was diagnosed as grossly abnormal by ultrasound at 28 weeks' gestation. Postmortem angiographic investigation of this acardiac twin and of the inter-fetal placental anastomoses are reported. The acardiac fetus had a 45,X chromosome constitution, while the other twin had apparently normal chromosomes (46,XX). The association of chromosome anomaly with holoacardius acephalus is discussed.
Abnormalities, Multiple↗
48,XYY,+13 karyotype in a liveborn infant.
A liveborn male infant, with typical features of trisomy 13, was found to have a combined autosomal and gonosomal trisomy, 48,XYY,+13. To our knowledge, this is the first report of co-existing 13 trisomy and XYY chromosome complement.
Chromosomes, Human, 13-15↗
Persistent renal blastema (nephroblastomatosis) as a frequent precursor of Wilms' tumor; a pathological and clinical review. Part 2. Significance of nephroblastomatosis in the genesis of Wilms' tumor.
The historical development of the concept of nephroblastomatosis is reviewed. Subtypes of nephroblastomatosis are described, and their interrelationships are discussed.
Child, Preschool↗
Cytochemically demonstrable B-glucuronidase activity in normal and neoplastic human lymphoid cells.
Mononuclear cell suspensions were prepared from 40 normal peripheral blood and lymphoid tissue specimens and 42 neoplastic specimens obtained from patients with malignant lymphoma and lymphocytic leukemia. These suspensions were analyzed for la antigens, surface immunoglobulin (Slg), sheep erythrocyte (E) rosette formation and, in some instances, acid alpha-naphthyl acetate esterase (ANAE) activity. The results of these studies were correlated with the expression of cytochemically demonstrable BG activity. The percentage of BG+ lymphocytes was found to be comparable, within 10%, to the percentage of E+ (T) cells in the majority of normal, non-neoplastic peripheral blood, tonsil, spleen, and lymph node specimens examined. Occasionally, the percentage of E+ cells exceeded the percentage of BG+ cells by 20% or more, suggesting the presence of an E+BG- T cell subpopulation. BG+ B lymphocytes were only demonstrated in 1 of 40 non-neoplastic lymphoid specimens. The neoplastic B cells in each of 14 B cell (la+Slg+E-) lymphomas were BG-. However, a variable proportion of the neoplastic cells isolated from 6 cases of B cell chronic lymphocytic leukemia and neoplastic plasma cells isolated from 7 cases of multiple myeloma expressed BG activity. Thus, it appears that both normal and neoplastic BG- and BG+ B lymphocyte populations exist; the latter may be related to a state of activation or a stage of B cell differentiation. The neoplastic cells isolated from 4 T cell (la-Slg-E+) malignancies were BG+ while those isolated from 3 T cell malignancies were BG-. The variable expression of BG activity by T cell malignancies may be related to T cell differentiation. Investigation of BG expression by T cell derived malignancies may prove useful in sorting out T cell phenotypes.
Cell Transformation, Neoplastic↗
Etiology of neural tube defect in man--Do teratogens play any part? Evidence from sex ratios.
Neural tube defect (NTD) is more common among spontaneously aborted fetuses than in infants born in the third trimester, but there is no direct evidence that NTD-affected conceptuses, presenting at these two different gestational ages, are components of a single disease process. Evidence for homology is here presented in an analysis of the sex ratios of spontaneously and therapeutically aborted NTD-affected fetuses, and of sex ratios differing with variations in prevalence of NTD-affected infants. If it could be shown conclusively that NTD is a single disease process, with an inverse relationship between components expressed early and late in gestation, there would be implications for the ascertainment of families at risk for NTD, and for the search for environmental factors potentially involved in the causation of NTD.
Abortion, Spontaneous↗
Acid alpha-naphthyl acetate esterase activity in human neoplastic lymphoid cells. Usefulness as a T-cell marker.
Previous studies have shown that a distinctive pattern of acid alpha-naphthyl acetate esterase (ANAE) activity (focal reaction product) characterizes normal human peripheral blood and tissue T lymphocytes but is absent from thymocytes and certain mitogen-stimulated T-cell blasts. In the present study mononuclear cell suspensions prepared from the peripheral blood and tissue specimens of 35 patients with lymphoid malignancies were simultaneously analyzed for surface immunoglobulin, sheep erythrocyte rosette formation, Ia antigens, and ANAE activity. The neoplastic cells from 16 patients with Ia+ SIg+ E- (B cell) malignancies, 4 patients with Ia+ SIg- E- (non-B, non-T) acute lymphoblastic leukemia, and 3 patients with Ia- SIg- E- (null cell) malignancies failed to exhibit ANAE activity. The neoplastic cells from 5 patients with Ia- SIg- E+ (T cell-derived) malignancies, including three cutaneous lymphomas, displayed characteristic T-pattern positivity, and in each case the percentage of E+ and ANAE+ cells was comparable. The neoplastic cells from 4 patients with Ia- SIg- E+ (T cell-derived) acute lymphoblastic leukemia were ANAE-. The expression of ANAE activity in T cell-derived malignancies may parallel its expression in the stages of normal T-cell differentiation and may prove to be a useful marker with which to sort out T-cell phenotypes.
Adult↗