Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 14 de 14
Filter
Add more filters










Publication year range
1.
Minerva Pediatr ; 64(4): 447-50, 2012 Aug.
Article in English | MEDLINE | ID: mdl-22728616

ABSTRACT

We report a fatal case of fulminant myocarditis (FM) in a five-year-old male child. He presented to our Emergency Department having complained fever, vomiting, nausea and abdominal pain from the previous day. The ECG showed broad complex tachycardia unresponsive to treatment with both drugs and all other resuscitation measures and the child died four hours after admission. Post-mortem histological examination showed diffuse infiltration of the myocardium although no viral material could be identified. FM is relatively uncommon and late presentation at an almost irreversible stage unusual. This case indicates the necessity of a rapid transfer to a center with ECMO or MCS, when FM is diagnosed.


Subject(s)
Myocarditis/diagnosis , Abdominal Pain/etiology , Arrhythmias, Cardiac/etiology , Autopsy , Child, Preschool , Diagnosis, Differential , Electrocardiography , Fatal Outcome , Fever/etiology , Humans , Male , Myocarditis/complications , Myocarditis/pathology , Myocarditis/physiopathology , Myocarditis/therapy , Nausea/etiology , Vomiting/etiology
2.
Pathologica ; 103(3): 53-60, 2011 Jun.
Article in English | MEDLINE | ID: mdl-22007565

ABSTRACT

OBJECTIVES: Congenital heart defects may be associated with various extracardiac and chromosomal anomalies, and complex cardiac defects may occur in the presence of heterotaxy syndromes, in which both lungs are bilobate, in left isomerism, or both trilobate, in right isomerism. Lung lobation defects are otherwise very rare. Lung lobation is recognisable only at autopsy; however, its definition is fundamental for evaluation of the visceroatrial arrangement, together with other characteristic signs. METHOD: We report seven cases of congenital heart defects diagnosed prenatally at 14-31 weeks of gestation (wg), 5 females and 2 males, in which autopsy revealed lung lobation defects in the presence of normal visceroatrial arrangement, in association with other extracardiac anomalies or dysmorphism. RESULTS: Three foetuses had hypoplastic left heart syndrome, one had corrected transposition of great arteries, one had tricuspid atresia, one Ebstein's anomaly and one had ventricular septal defect in trisomy 21. In six cases, pregnancy had been terminated, while the foetus with Ebstein's anomaly died in utero at 32 wg for supraventricular tachycardia. Monolobate, bilobate, trilobate and quadrilobate lungs were found in these foetuses, together with other minor extracardiac anomalies or dysmorphism. CONCLUSIONS: Autoptic analysis in cases with prenatal diagnosis is needed to confirm echographic findings and reveal other minor anomalies, undetectable by ultrasound imaging that may complete the malformation pattern, which is useful to the couple for genetic counselling.


Subject(s)
Fetal Diseases/diagnostic imaging , Fetal Diseases/pathology , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/pathology , Lung/abnormalities , Lung/diagnostic imaging , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/pathology , Adult , Autopsy , Echocardiography , Female , Humans , Male , Pregnancy , Young Adult
3.
Ultrasound Obstet Gynecol ; 36(3): 315-23, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20812307

ABSTRACT

OBJECTIVES: Campomelic dysplasia is a rare congenital skeletal disorder characterized by bowing of the long bones and a variety of other skeletal and extraskeletal defects, many of which can now be identified prenatally using advanced ultrasound equipment. The disorder is caused by mutations in SRY-box 9 (SOX9), a gene that is abundantly expressed in chondrocytes as well as in other tissues. However, the correlation between genotype and phenotype is still unclear. We report five cases of prenatally detected campomelic dysplasia in which the diagnosis was confirmed by molecular analysis. METHODS: Ultrasound examinations were performed between 12 and 32 weeks. Standard fetal biometric measurements were obtained. Fetal sex was determined sonographically and confirmed by chromosomal analysis. Genomic DNA was obtained in four cases before termination of pregnancy from chorionic villi or amniocytes and in one case postnatally from peripheral blood. RESULTS: Skeletal dysplasia, most often limb shortening and bowed femora, was observed in one case in the first trimester, in three cases in the second trimester and in one case, presenting late for antenatal care, in the third trimester. Four of the pregnancies were terminated and one was carried to term. Postmortem/postnatal physical and radiographic examinations confirmed the presence of anomalies characteristic of campomelic dysplasia. A de novo mutation in the SOX9 gene was detected in all four cases that underwent termination. The father of the proband in the case that went to term was a carrier of a somatic mosaic mutation without clinical or radiographic signs of campomelic dysplasia. CONCLUSIONS: It is likely that the integrated expertise of ultrasonographers, obstetricians, pediatricians and clinical geneticists will markedly improve the likelihood of accurate prenatal clinical diagnoses of campomelic dysplasia. This will, in turn, encourage more specific molecular testing and facilitate comprehensive genetic counseling.


Subject(s)
Campomelic Dysplasia/diagnostic imaging , Campomelic Dysplasia/genetics , SOX9 Transcription Factor/genetics , Abortion, Induced , Adult , Campomelic Dysplasia/embryology , Female , Genetic Counseling , Genotype , Gestational Age , Humans , Phenotype , Point Mutation/genetics , Pregnancy , Pregnancy Trimester, First , Ultrasonography, Prenatal , Young Adult
6.
Clin Dysmorphol ; 13(4): 255-256, 2004 Oct.
Article in English | MEDLINE | ID: mdl-15365464

ABSTRACT

We describe a female affected by diaphragmatic hernia and nasopharyngeal teratoma. The case is compared with one already reported and possible diagnoses discussed. These cases appear to represent a new syndrome.


Subject(s)
Hernia, Diaphragmatic/physiopathology , Nasopharyngeal Neoplasms/physiopathology , Teratoma/physiopathology , Craniofacial Abnormalities/physiopathology , Female , Humans , Infant, Newborn , Syndrome
7.
J Inherit Metab Dis ; 27(5): 609-19, 2004.
Article in English | MEDLINE | ID: mdl-15669676

ABSTRACT

Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have been described. We report on two sibling male newborns who died at 10 and 4 weeks of age with clinical signs of a systemic storage disease. Prenatal history included polyhydramnios, reduced fetal movements and fetal hydrops, and Caesarean section was performed at 36 weeks of gestational age because of fetal distress. At birth, both babies showed severe hypotonia, hyporeflexia and no spontaneous breathing activity. They never showed active movements, sucking and swallowing and were respirator-dependent until death. A muscle biopsy revealed, in both patients, the presence of PAS-positive and partially diastase-resistant cytoplasmic inclusions containing granular and filamentous amylopectin-like material. This suggested that the stored material consisted of abnormal glycogen. At autopsy, ultrastructural examination of cardiac and skeletal muscle, liver, kidney and brain showed PAS-positive diastase-resistant eosinophilic cytoplasmic inclusions. Determination of branching enzyme activity, in cultured fibroblasts from the second patient, showed markedly reduced enzyme activity, confirming diagnosis of glycogenosis type IV. Our patients showed the full spectrum of both prenatal signs (hydrops, polyhydramnios) and postnatal signs (hypotonia, hyporeflexia, absence of active movements, cardiomegaly), which have been reported previously. They suffered from a very severe form of glycogenosis type IV with clinical and histological involvement of many tissues and organs. Diagnosis was accomplished on the second baby and required several biochemical and histological studies, in order to rule out both neuromuscular disorders and the most common storage diseases with neonatal onset. In our experience, the correct interpretation of the histological findings was essential in the search for the diagnosis.


Subject(s)
Glycogen Storage Disease Type IV/diagnosis , Glycogen Storage Disease Type IV/genetics , Age of Onset , Autopsy , Central Nervous System/metabolism , Cytoplasm/metabolism , Family Health , Fatal Outcome , Genes, Recessive , Glycogen/blood , Glycogen Storage Disease Type IV/metabolism , Humans , Infant , Infant, Newborn , Male , Muscle, Skeletal/pathology , Tissue Distribution
8.
J Comp Neurol ; 410(1): 126-42, 1999 Jul 19.
Article in English | MEDLINE | ID: mdl-10397400

ABSTRACT

The development of layer I was studied in the human frontal cortex from 21 weeks of gestation (GW) to 2.5 postnatal months in series of adjacent sections processed for thionin staining, Bodian silver staining, and immunocytochemical labeling of neurons and glia. In addition, the terminal dUTP nick-end labeling (TUNEL) method was used to label in situ DNA fragmentation. A progressive decrease of cell density and the disappearance of the subpial granular layer (SGL) appeared as distinctive developmental features of human layer I, consistently with previous investigations. The neuronal antigen microtubule-associated protein2 was found to label preferentially Cajal-Retzius cells and dendritic processes extending from the cortical plate. At midgestation, the calcium binding protein calretinin stained in the marginal zone numerous neurons, including the Cajal-Retzius cells and their processes. Calretinin-immunoreactive neurons decreased during the subsequent maturation: such decline was abrupt in the SGL, whereas bipolar calretinin-immunopositive cells accumulated in the inner marginal zone to be presumably incorporated into the cortical plate. Cajal-Retzius cells expressed calretinin throughout the examined developmental stages. The glial antigen vimentin was already expressed at midgestation, and vimentin immunopositivity decreased progressively in cell bodies and fibers of layer I during development. Glial fibrillary acidic protein-positive elements gradually matured, and the positive cell bodies displayed the features of mature astrocytes at the end of gestation. Moreover, a decrease of free glial cells was observed in layer I, suggesting their progressive incorporation into the cortical plate. TUNEL-positive cells were detected at midgestation in the marginal zone, and they were concentrated in the SGL until its disappearance; their number decreased dramatically throughout layer I after 30 gestational weeks. TUNEL-positive nuclei or regressive changes were not detected in Cajal-Retzius cells throughout the examined developmental stages. Thus, our data point out that naturally occurring cell death is an active mechanism contributing to the disappearance of the SGL but not to the subsequent developmental reshaping of human layer I, in which, instead, migratory phenomena should play a major role. In addition, our findings argue against a disappearance of Cajal-Retzius cells due to regressive processes.


Subject(s)
Apoptosis/physiology , Frontal Lobe/embryology , Neuroglia/cytology , Neurons/cytology , Calbindin 2 , Cell Count , DNA Fragmentation/physiology , Embryo, Mammalian/cytology , Embryo, Mammalian/metabolism , Embryo, Mammalian/physiology , Embryonic and Fetal Development/physiology , Female , Frontal Lobe/cytology , Humans , Immunohistochemistry , In Situ Nick-End Labeling , Infant , Infant, Newborn , Male , Neurons/metabolism , S100 Calcium Binding Protein G/metabolism
9.
Prenat Diagn ; 18(8): 834-7, 1998 Aug.
Article in English | MEDLINE | ID: mdl-9742573

ABSTRACT

Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes.


Subject(s)
Fetal Blood/chemistry , Genetic Diseases, Inborn/diagnosis , Prenatal Diagnosis , Abnormalities, Multiple/blood , Abnormalities, Multiple/diagnostic imaging , Adult , Amniocentesis , Cholesterol/blood , Chorionic Villi Sampling , Chromosome Aberrations , Chromosomes, Human, Pair 12 , Female , Humans , Karyotyping , L-Lactate Dehydrogenase/blood , Male , Pregnancy , Smith-Lemli-Opitz Syndrome/diagnosis , Syndrome , Ultrasonography, Prenatal
11.
Minerva Pediatr ; 49(3): 89-92, 1997 Mar.
Article in Italian | MEDLINE | ID: mdl-9198734

ABSTRACT

BACKGROUND: Few cases of ectopic neurological tissue have been reported in the lung. The aim of the present study was to give a brief overview of these cases and to examine an additional case of intrapulmonary neuroglial heterotopia. We have identified only sixteen similar cases in the literature. CASE DESCRIPTION: The object of our study was a male fetus of Asian parents at the 23rd week of gestation, in which ultrasound tests revealed the presence of anterior encephalocele. Routine postmortem examination of lung samples showed neuroglial tissue and a congenital adenomatoid cystic malformation of type II. The lesion was made up of multiple small cysts lined with columnar or ciliated cuboidal epithelium. A possible link between adenomatoid malformation and intrapulmonary neurological tissue has not so far been reported in the literature. Immunohistochemical analysis showed the presence in the pulmonary parenchyma of neuronal cells (neuron-specific enolase positive), astrocytes (glial fibrillary acidic protein positive) and intra-alveolar squamous cells (citokeratines positive), indicative of fetal aspiration of amniotic fluid. CONCLUSIONS: There are several possible explanations for the presence of intrapulmonary neuroglial heterotopia: fetal aspiration, neural crest migration defects or vascular embolization with implantation. However, in the view of the microscopic findings and at the same time recognizing the intrapulmonary aspiration of amniotic fluid, the authors maintain that the most likely explanation for the heterotopia is that of consequential multiple malformations. Moreover neuroglial ectopy and cystic adenomatoid congenital malformation of the lung could have appeared simultaneously, due to embryologic insult between the 4th and the 20th week of gestation.


Subject(s)
Choristoma , Cystic Adenomatoid Malformation of Lung, Congenital/diagnosis , Lung/ultrastructure , Neuroglia/ultrastructure , Humans , Infant, Newborn , Male
13.
Prenat Diagn ; 13(10): 995-9, 1993 Oct.
Article in English | MEDLINE | ID: mdl-8309906

ABSTRACT

Omphalopagus conjoined twins were diagnosed by ultrasonography in a pregnant woman at 21 weeks' gestation. In order to clarify the anatomical connections, magnetic resonance imaging (MRI) was performed, having achieved fetal paralysis by intravascular injection of 100 mg of pancuronium into each twin. Prior to MRI, 2 ml of a 0.0001 mmol/ml solution of gadolinium DTPA was also injected into the stomach of one twin. The contrast agent opacified the bowel loops of both twins, indicating bowel to bowel anastomosis. Following pregnancy termination, autopsy confirmed the prenatal diagnosis.


Subject(s)
Fetal Diseases/diagnosis , Magnetic Resonance Imaging , Pregnancy, Multiple , Prenatal Diagnosis , Twins, Conjoined , Abortion, Therapeutic , Adult , Female , Fetal Diseases/diagnostic imaging , Fetoscopy , Humans , Intestines/abnormalities , Pregnancy , Twins, Conjoined/pathology , Ultrasonography, Prenatal , Umbilical Cord/abnormalities
SELECTION OF CITATIONS
SEARCH DETAIL
...