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Biomedical subjects

D Emons

Publications and source records attributed to D Emons.

At least 19 recordsLinked to original sources
PubMed2000

Yunis-Varon syndrome: evidence for a lysosomal storage disease.

We present clinical and neuropathological findings in a female infant with Yunis-Varon syndrome (YVS) comprising absence of thumbs and halluces, aphalangia of fingers and toes, hypoplasia of clavicles, severely undermineralized skeleton (especially skull), microcephaly, and multiple nonskeletal anomalies. The patient also had a Dandy-Walker malformation, hydrocephalus, and hypertension, which were not reported previously in YVS. The infant excreted an abnormal unidentified oligosaccharide. The patient died at day 108 with severe neurological impairment. Autopsy showed prominent intraneuronal inclusions with vacuolar degeneration, mainly in the thalamic, dentate nuclei, cerebellar cortex, and inferior olivary nuclei. No storage phenomena were observed in other tissues. These findings strongly suggest that a lysosomal storage disorder is involved in the pathogenesis of Yunis-Varon syndrome.

Abnormalities, Multiple↗
PubMed1996

Subdural hemorrhage as an initial sign of glutaric aciduria type 1: a diagnostic pitfall.

The case of a 9-month-old girl with glutaric aciduria type 1 (GA 1) is reported. On initial presentation at 6 months of age, the patient demonstrated bilateral subdural hemorrhages and widening of the basal cisterns. After neurosurgical intervention the subdural effusions regressed; their etiology remained unclear. At the age of 9 months the patient presented again because of progressive loss of psychomotor abilities and a dystonic movement disorder. Cerebral MRI revealed regressive subdural hematoma, but marked frontotemporal atrophy as well. Because of a suspected metabolic disorder, urinary analysis of organic acids was performed. This repeatedly showed marked excretion of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid, indicating a diagnosis of GA 1. Considering our patient's history, we recommend the inclusion of GA 1 in the differential diagnosis of patients with unexplained subdural hematoma and neurological deficits.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction.

We report on a 2-year-9-month-old boy with the typical features of craniometaphyseal dysplasia with hyperostosis and sclerosis of the cranial vault and mild splaying of the metaphyses. The boy already presented during the neonatal period with the unusual clinical picture of breathing and feeding problems due to severely enlarged and ossified inferior nasal conchae causing obstruction of the nasal lumen.

Age of Onset↗
PubMed1995

Familial schizencephaly: further delineation of a rare disorder.

We report on two Somalian sibs with severe developmental retardation and spastic cerebral paresis. Both children have bilateral cerebral clefts in the Sylvian region with dilatation of the ventricles, absence of the septum pellucidum, and heterotopia. The diagnosis of familial schizencephaly was made. The occurrence of schizencephaly in two affected sibs supports a genetic basis for schizencephaly.

Brain↗
PubMed1992

Connatal periventricular pseudocysts in the neonate.

Connatal periventricular pseudocysts are important sequelae of different noxious insults in the developing brain. Accurate diagnosis of those pathologic entities during early life has therefore become of direct concern to the clinician. Our experience with 12 infants of connatal periventricular pseudocysts provides the basis of this study. They belonged to different pathological entities: focal paraventricular pseudocysts (5 cases), subependymal pseudocyst (3 cases), connatal viral infection (3 cases), and chromosomal abnormality (1 case). When present at birth, they suggest an intrauterine pathology. It has only been with the advent of real-time cranial ultrasound that periventricular pseudocystic lesions can be detected in neonates following an abnormal pregnancy. Some obstetric complications during the second trimester can cause paraventricular or subependymal pseudocyst in the foetus. Neurotrophic viral infection and chromosomal abnormalities have also been implicated in the production of cystic lesions in this region. These lesions are not a terminal event in infants but may be a condition of major clinical importance for further neurological development.

Brain Diseases↗
PubMed1991

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

Abnormalities, Multiple↗
PubMed1990

Mucocele of paranasal sinuses in a young infant with cystic fibrosis.

We report the case of an infant who developed severe nasal obstruction as an unusual first presentation of cystic fibrosis (CF). Computed tomography (CT) showed homogeneous opacification of the symmetrically enlarged paranasal sinuses that gave the clue for the final diagnosis.

Cystic Fibrosis↗
PubMed1989

[Megacystis microcolon intestinal hypoperistalsis syndrome: A neuropathy?].

2 cases of megacystis microcolon intestinal hypoperistalsis are presented. A female newborn was capable of being fed completely enterally after three months. Laparotomy was not performed. A male newborn was subjected to laparotomy after 3 days and an ileal stoma was applied. The infant died after 6 months of complete parenteral feeding without any peristalsis having been initiated. Biopsies of the colon and small intestine of the patient showed normal HE staining findings. Histochemical examination revealed type B neuronal dysplasia with neuronal hypogenesis. The findings of 27 cases described in the literature are discussed with special reference to the histological findings of the intestinal wall.

Chronic Disease↗
PubMed1988

[Ectopic ureterocele--diagnosis and therapy].

The ectopic ureterocele is a relatively frequent congenital abnormality of the urinary tract. Its clinical signs are often uncharacteristic. Therefore the sometimes discrete changes in the diagnostic evaluations have to be looked for. The various procedures of which the excretory urography still plays a central role are discussed with their possibilities and limitations. The removal of the mostly dysplastic upper segment with its ureter is usually the most sensible treatment. Only in rare cases, where scintigraphically and clinically the segment seems preservable, a ureteropyelostomy is indicated. The different indications for primary and secondary excision of the ureterocele itself are outlined. A minimal therapy, that does not correct the underlying anatomical abnormality like the endoscopic incision should be reserved for uroseptic emergencies.

Child↗
PubMed1987

Neurenteric cyst diagnosed by technetium-99m pertechnetate sequential scintigraphy.

Neurenteric cysts are rare congenital anomalies which present as mediastinal tumors associated with vertebra anomalies. Two-thirds of them are lined with gastric mucosa and are potentially life threatening. An exact differential diagnosis is difficult preoperatively but is absolutely necessary because of the grave prognosis if left untreated. We present a case in which [99mTc]pertechnetate sequential scintigraphy demonstrated gastric mucosa in the cyst and helped to confirm the diagnosis. The scintigraphic findings are correlated with radiologic, sonographic, and pathologic features.

Female↗
PubMed1986

Hydrothorax, ascites, and right diaphragmatic hernia.

Hydrothorax and/or ascites may be the most striking finding in children with right diaphragmatic hernia. The clinical, radiographic, and pathologic findings of five children with right diaphragmatic defects through which the liver had herniated are described. Three presented with a right hydrothorax, one with a right hydrothorax and ascites, and another with ascites. All four children with large right hydrothoraxes were found to have an incarcerated peritoneal sac filled with fluid in the right side of the chest at surgery or autopsy. Lymphatic congestion and obstruction was the probable cause for the fluid collection, which tended to enlarge with time. This condition may be life threatening, and two of the four patients died soon after birth because of hypoplasia of the lungs. Fetal ultrasonography in both had disclosed right intrathoracic cystic masses, and in one, intrauterine aspiration to decompress the lungs had been attempted. The other two patients are alive and well following surgical repair at 1 week and 7 months of age. Ascites was present in two patients and was believed to be due to hepatic venous obstruction, a mechanism similar to that responsible for the Budd-Chiari syndrome.

Ascites↗
PubMed1986

[Intraventricular cerebral hemorrhage in the fetus as a cause of congenital hydrocephalus. A contribution to the origin of congenital hydrocephalus].

Three newborns with posthemorrhagic hydrocephalus after fetal cerebral intraventricular hemorrhage are presented. In all 3 patients hydrocephalus internus was already prenatally diagnosed. Cerebral ultrasound postnatally performed revealed findings of old cerebral intraventricular hemorrhage. Severe factor VIII deficiency was found in one of the patients. The possible connexion of fetal intraventricular hemorrhage with coagulopathy of the fetus has not yet been defined.

Cephalometry↗
PubMed1984

[Cortical hyperostoses after long-term prostaglandin E2 therapy].

Cortical hyperostoses are found to be side effects after therapy in early infancy with prostaglandin E1 and E2. Correlation seems to exist between dosage and duration of therapy. Radiologically the lesions cannot be differentiated from Caffey's disease. Pathogenetic relationship of the two diseases is discussed; 62 cases of newborn children with ductal related vitium cordis, who were treated for a short time or for longer with prostaglandin E2 are demonstrated.

Dinoprostone↗
PubMed1981

[Semitransparent peroral small bowel imaging (author's transl)].

171 follow-through examinations of the small bowel performed in children and adolescents with a large contrast medium meal and the high voltage - low density barium technique (10 to 25 g BaSO4/100 ml, depending on age), are described. A ready made suspension, diluted with water, proved unsatisfactory. Coating properties and stability of the diluted, weak suspension were then greatly improved by hydroxyethylcellulose as a thickening agent and in addition by premedication of the patient with cimetidine. Pure cellulose solution instead of the last portion of barium prevented thickening in the ileum. The procedure has the well known medium meal without the problem of overly dense superpositions.

Adolescent↗
PubMed1980

[Endoscopic retrograde cholangio-pancreatography in children (author's transl)].

Fifteen endoscopic retrograde cholangio-pancreatographies (ERCP) were performed between 1977 and 1979 in 13 children aged 2 months to 13.9 years (mean 8.9 years). All studies were done without intubation anaesthesia. Main indications were 1. acute (recurrent) biliary stasis, 2. persistent biliary stasis, 3. chronic pancreatitis, and 4. congenital malformation of the biliary system or the pancreas. Thirteen of the 15 investigations were successfully concluded. In nine cases both ductal systems were demonstrated, in two cases each either only the pancreatic or only the biliary ducts. The most frequent abnormal findings were seen in acute biliary stasis (four of five children), persistent biliary stasis (all four children) and congenital malformations (two of three children). There were no serious side effects. Except in young infants, for whom there are no properly sized instruments, ERCP in children provides no greater technical difficulties than in adults.

Adolescent↗
PubMed1978

[Transitory myelofibrosis in a case of diaphyseal dysplasia (Camurati-Engelmann's disease) (author's transl)].

A Greek child aged 2 with diaphyseal dysplasia developed an anaemia which required transfusion. The liver, spleen and lymph nodes were enlarged, there was pancytopenia and polyclonal hypergammaglobulinaemia. Biopsy provided evidence for myelofibrosis with extramedullary erythropoiesis. He was treated with small doses of corticosteroids and during his third year there was complete regression of the disease without recurrence when treatment was stopped. Disturbances of haematopoiesis in diaphyseal dysplasia has not been reported previously. These unusual findings are of clinical interest and also affect the clinical diagnosis.

Bone Diseases, Developmental↗