ABSTRACT
Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. The results of our study confirm the existence of two separate types of BOCD, which we propose naming type I: the severe, 'classical' form, and type II: a less severe form.
Subject(s)
Osteochondrodysplasias/pathology , Adult , Bone Density , Consanguinity , Female , Fetal Death/genetics , Gestational Age , Humans , Infant, Newborn , Male , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/genetics , Osteosclerosis/genetics , Osteosclerosis/pathology , Pregnancy , RadiographyABSTRACT
Only incidental mention has been made to date of the combined occurrence of subependymal heterotopia and posterior encephalocele. We evaluated the presence of disseminated nodular subependymal heterotopia in two series of patients with posterior encephalocele. The first series consisted of all six patients who were treated in our hospital for encephalocele during the last 11 years and who underwent magnetic resonance imaging (MRI). In three, subependymal nodular heterotopia was found by MRI. The second series consisted of eight autopsy cases with encephalocele, representing all cases of encephalocele that came to autopsy during a 10-year period on whom full microscopic examination could be performed. Nodular heterotopia was found in four. The combined occurrence of these two rare conditions may not be accidental.
Subject(s)
Brain Diseases/diagnosis , Choristoma/diagnosis , Encephalocele/diagnosis , Ependyma , Magnetic Resonance Imaging , Meningocele/diagnosis , Brain Diseases/pathology , Cerebral Cortex/pathology , Cerebral Ventricles/pathology , Choristoma/pathology , Encephalocele/pathology , Ependyma/pathology , Female , Humans , Infant , Infant, Newborn , Male , Meningocele/pathology , PregnancySubject(s)
Bronchial Diseases/diagnosis , Fever/etiology , Tracheal Diseases/diagnosis , Bronchial Diseases/complications , Bronchoscopy , Cartilage Diseases/complications , Cartilage Diseases/diagnosis , Humans , Klebsiella Infections/complications , Klebsiella Infections/diagnosis , Male , Middle Aged , Recurrence , Tomography, X-Ray Computed , Tracheal Diseases/complicationsABSTRACT
BACKGROUND: Milky spots in the human greater omentum are preformed specific accumulations of primarily macrophages within the stroma of the greater omentum. To obtain a better understanding of milky spots in the human greater omentum, the development and the earliest forms of milky spots in the human greater omentum were studied, with special attention to the macrophage population. METHODS: Specimens of human greater omentum were obtained from fetuses of 20 to 40 weeks gestation and one newborn three days old (n = 6). Using mature macrophages (RFD 7), activated macrophages (RFD 1), B-lymphocytes (CD 22), and T-lymphocytes (CD 2), and immunoperoxydase labeling, the percentage of these cells in developing milky spots and the development of milky spots were studied by light microscopy. A time-dependent increase in the percentage of positive staining cells and the size of clusters was analyzed using the non-parametric Spearman rank correlation test. RESULTS: Small accumulations of cells with about 50% monocytes/macrophages were present at 20 weeks of gestation. With increasing gestational age the number of clusters of cells increased significantly (P < 0.01) as well as their size (P < 0.01). Starting at 29 weeks, vascularized clusters of cells were seen; true milky spots were present at 35 weeks. A significant (P < 0.05) increase in the percentage of mature macrophages was found in developing milky spots, whereas no activated macrophages were seen. The percentage of B-lymphocytes and T-lymphocytes found in the clusters of cells and milky spots increased significantly (P < 0.05) but did not exceed 10% of the total number of cells. CONCLUSIONS: From our data it can be concluded that milky spots are specific structures in the greater omentum formed between the 20th and 35th week of gestation. Further, we concluded that immature cells (promonocytes) mature locally in developing milky spots.
Subject(s)
Omentum/embryology , Cell Aggregation , Cell Count , Embryo, Mammalian/cytology , Embryonic and Fetal Development , Humans , Immunohistochemistry/methods , Lymphocytes/cytology , Lymphocytes/physiology , Macrophages/cytology , Macrophages/physiology , Staining and LabelingSubject(s)
Carrier Proteins/genetics , Mutation , Osteochondrodysplasias/genetics , Proteoglycans/metabolism , Sulfates/metabolism , Anion Transport Proteins , Humans , Membrane Transport Proteins , Osteochondrodysplasias/classification , Phenotype , Point Mutation , Protein Processing, Post-Translational , Sequence Deletion , Sulfate TransportersABSTRACT
Two cases of sirenomelia are described, detected in the 14th and 16th weeks of gestation by transvaginal ultrasonography. A hypothesis for the aetiology of sirenomelia and its associated anomalies is discussed.
Subject(s)
Ectromelia/diagnostic imaging , Ultrasonography, Prenatal , Adult , Female , Fetal Diseases/diagnostic imaging , Humans , Pregnancy , Pregnancy Trimester, SecondABSTRACT
Autosomal dominant and autosomal recessive forms of hypophosphatasia have been reported; generally the clinical picture runs true to form in families. In each of 2 kindreds, 2 sibs were clinically affected by hypophosphatasia to a markedly different extent. One set of sibs showed the lethal (perinatal) and infantile forms. The other showed the dental and adult forms. In both families there was consanguinity, albeit distant, and clinical expression in sibs supporting autosomal recessive inheritance.
Subject(s)
Hypophosphatasia/genetics , Adult , Alkaline Phosphatase/deficiency , Bone and Bones/pathology , Child, Preschool , Consanguinity , Diseases in Twins/genetics , Female , Genes, Recessive , Humans , Hypophosphatasia/enzymology , Hypophosphatasia/pathology , Infant, Newborn , Male , Pedigree , Phenotype , Twins, DizygoticABSTRACT
A severely retarded male child with Joubert syndrome is described. He had severe neurological anomalies including Dandy-Walker malformation, hypoplasia of the corpus callosum, occipital meningo-encephalocele, and bilateral coloboma of the optic nerve with retrobulbar cystic mass. This is the first male described so far with both coloboma and other midline defects. A detailed autopsy on an affected female fetus from the mother's second pregnancy is presented.
Subject(s)
Abnormalities, Multiple/genetics , Dandy-Walker Syndrome/genetics , Abnormalities, Multiple/embryology , Abnormalities, Multiple/pathology , Abortion, Induced , Brain/embryology , Brain/pathology , Dandy-Walker Syndrome/embryology , Dandy-Walker Syndrome/pathology , Female , Humans , Infant, Newborn , Male , PregnancyABSTRACT
A case of prenatal diagnosed thoracopagus conjoined twins is presented. In thoracopagus twins the cardiovascular system mainly determines the options for separation and survival. Therefore prenatal investigation of this organ system is indispensable. Ultrasound level-2 examination predicted the impossibility of separation and fully matched the autopsy findings. In conclusion, ultrasound examination appears to be an important tool to enable planning of the optimal delivery approach.
Subject(s)
Pregnancy, Multiple , Twins, Conjoined , Ultrasonography, Prenatal , Adult , Female , Heart Defects, Congenital , Humans , Liver/abnormalities , Pregnancy , Twins, Conjoined/pathologyABSTRACT
A male neonate born after spontaneous labor during the 25 3/7 week of gestation, developed a fatal course of disseminated candidiasis. Disseminated candidiasis is seen in newborns undergoing intensive care and has a high mortality rate. Important etiologic factors are low immunologic response, invasive monitoring techniques, systemic antibiotics and parenteral nutrition. Early diagnosis and efficient antimycotic therapy with amphotericin B and if necessary combined with flucytosine contribute a great deal to the chance of survival.
Subject(s)
Candida albicans/isolation & purification , Candidiasis/congenital , Infant, Premature, Diseases/microbiology , Anti-Bacterial Agents , Brain/microbiology , Candidiasis/drug therapy , Candidiasis/microbiology , Drug Therapy, Combination/therapeutic use , Humans , Infant, Newborn , Liver/microbiology , Male , Tissue DistributionABSTRACT
The ocular pathology in eight patients with trisomy 13 (Patau syndrome) is discussed and compared with the undisturbed development of the eye.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 13 , Eye Abnormalities/genetics , Trisomy , Abnormalities, Multiple/pathology , Cataract/complications , Cataract/genetics , Cataract/pathology , Coloboma/complications , Coloboma/genetics , Coloboma/pathology , Female , Humans , Infant, Newborn , Male , Microphthalmos/complications , Microphthalmos/genetics , Microphthalmos/pathology , Retinal Diseases/complications , Retinal Diseases/genetics , Retinal Diseases/pathology , SyndromeABSTRACT
The clinical applicability and usefulness of nine ratios that express the relation between particular fetal growth parameters were tested in ten fetuses affected by skeletal dysplasia. The results were compared with the ratios calculated from five growth-retarded fetuses without structural anomalies. Femur/foot, femur/head circumference, head circumference/thoracic circumference and abdominal circumference/thoracic circumference ratios are useful additional parameters for the prenatal ultrasonographic diagnosis of skeletal dysplasias. They reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intra-uterine growth-retardation caused by other factors.
Subject(s)
Bone Development/physiology , Bone Diseases, Developmental/diagnosis , Embryonic and Fetal Development/physiology , Fetal Growth Retardation/diagnosis , Prenatal Diagnosis , Ultrasonography , Female , Humans , Longitudinal Studies , Male , Pregnancy , Prospective StudiesABSTRACT
Ophthalmic histopathology is presented in three cases of trisomy 18. The children, who showed typical systemic anomalies, died in the first few days of life. In two cases the cornea was normal, while in one case hypercellularity of the stroma was found and Bowman's and Descemet's layers were absent. A minimal cataract was also present in two cases. Retinal folds were a common finding in the posterior region in all three cases. In one case, a partial coloboma of the optic disc was present in both eyes. In case 2, a pouch between the optic nerve and the dural sheath was considered to be a minimal developmental disturbance of the primitive epithelial papilla possibly representing an optic pit. The absence of pigment epithelium on the nasal disc border in case 3, also points to a deformity of the primitive papilla. The importance of the disc region in clinical and histopathological investigation is stressed.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 18 , Eye Abnormalities/genetics , Trisomy , Female , Humans , Infant, Newborn , MaleABSTRACT
The Holt-Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow-up of two fetuses at risk for the Holt-Oram syndrome. In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt-Oram syndrome.
Subject(s)
Prenatal Diagnosis , Ultrasonography , Bone and Bones/abnormalities , Female , Fetal Death , Gestational Age , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/genetics , Humans , Pedigree , PregnancySubject(s)
Osteochondrodysplasias/diagnosis , Prenatal Diagnosis , Short Rib-Polydactyly Syndrome/diagnosis , Ultrasonography , Adult , Consanguinity , Female , Humans , Infant, Newborn , Kidney/pathology , Radiography , Short Rib-Polydactyly Syndrome/diagnostic imaging , Short Rib-Polydactyly Syndrome/pathologyABSTRACT
The histologic, morphometric, immunohistochemical, and ultrastructural study of a malignant Brenner tumor in a postmenopausal women presenting with vaginal bleeding is described. A comparison with transitional cell carcinomas is made, and the use of morphometry in grading the urothelial-like epithelium in malignant Brenner tumors is suggested. High preoperative urinary estrogen, low serum luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels and histologically confirmed atypical endometrial hyperplasia suggested a hyperestrogenism. The reduction in urinary estrogen and the increase in serum LH and FSH after tumor removal and the presence of aromatase activity detected in tumor microsomes confirmed that the tumor was synthesizing estrogen. Estrogen receptors were undetectable both by biochemical and histochemical analysis in the tumor.
Subject(s)
Brenner Tumor/pathology , Ovarian Neoplasms/pathology , Adnexa Uteri/pathology , Aged , Antigens, Neoplasm/analysis , Brenner Tumor/metabolism , Carcinoembryonic Antigen/analysis , Chorionic Gonadotropin/analysis , Chorionic Gonadotropin, beta Subunit, Human , Female , Histocytochemistry , Humans , Intermediate Filament Proteins/metabolism , Membrane Proteins/analysis , Microscopy, Electron , Mucin-1 , Ovarian Neoplasms/metabolism , Ovary/pathology , Peptide Fragments/analysis , Receptors, Estrogen/analysis , Uterus/pathologyABSTRACT
Among 111 hearts with so-called "isolated" ventricular septal defect, 18 specimens were found to have a subaortic perimembranous defect with an overriding aortic valve but without pulmonary stenosis. The ventricular architecture was characterized by several abnormalities. A constant finding was the wide right ventricular outflow tract. The outlet septum had its normal continuity with the septomarginal trabecula, but its parietal extension was located relatively far anteriorly. Part of the aortic valve thus inserted to the right ventricular component of the ventriculo-infundibular fold in the gap between the outlet septum and the tricuspid valve. Left ventricular abnormalities comprised mitral valve anomalies in all cases. There was an anteroseptal twist (leftward thickening of the anterior part of the ventricular septum) in 16 cases. A bicuspid aortic valve and/or malformed cusps were observed in 4 cases. Because of the linking phenomenon of aortic override, we also examined 10 hearts with tetralogy of Fallot and, in the latter, such abnormalities were not found. Our observations indicate that this seemingly simple type of defect is part of a complex malformation involving both septation and valve formation. Awareness of the existence of the architectural abnormalities might make them accessible for echocardiographic diagnosis. It was noteworthy that 11 of the 18 patients had chromosomal abnormalities, 9 of them presenting with trisomy-18.
Subject(s)
Aortic Valve/abnormalities , Eisenmenger Complex/pathology , Aortic Valve/pathology , Child, Preschool , Female , Heart Septal Defects, Ventricular/pathology , Heart Septum/pathology , Heart Ventricles/pathology , Humans , Infant , Infant, Newborn , Infant, Premature, Diseases/pathology , Male , Tetralogy of Fallot/pathologyABSTRACT
The differential diagnosis between placental teratoma and fetus acardius may be difficult. Both are rare conditions and show a variable degree of organisation. Important diagnostic features are the presence or absence of an umbilical cord and craniocaudal development. The presence of an umbilical cord and obvious craniocaudal development is highly indicative of fetus acardius. A fetus acardius is a malformed member of a monochorial twin. An acardius is probably caused by overpowering of the heart of the fetus acardius by that of the normal sibling or primary agenesis of the heart. Our case illustrates the difficulties in making the right diagnosis. Careful analysis showed that most probably amniotic rupture followed by formation of amniotic bands had resulted in the development of a fetus acardius.
Subject(s)
Abnormalities, Severe Teratoid/diagnosis , Amniotic Band Syndrome/diagnosis , Placenta Diseases/diagnosis , Pregnancy Complications, Neoplastic/diagnosis , Teratoma/diagnosis , Adult , Amniotic Band Syndrome/etiology , Diagnosis, Differential , Female , Heart Defects, Congenital/diagnosis , Humans , Pregnancy , Rupture, Spontaneous , Twins, Monozygotic , Umbilical Cord/pathologyABSTRACT
Congenital hypophosphatasia is an autosomal recessive disorder, which usually has a fatal outcome during the neonatal period. This report presents the prenatal diagnosis of hypophosphatasia at 16 weeks of gestation. The characteristic ultrasonic findings in this abnormality demonstrate the superiority of ultrasound as compared with radiography.