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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of aneurysm of the great vein of Galen was reported in which craniotomy and clipping of a feeding artery arising from the left posterior cerebral artery was successfully performed. This 5-month-old girl developed progressive hydrocephalus from 2 months after birth. At 5 months the head circumference was 50 cm with tense enlarged fontanelle. Both eye balls were deviated downward. The deep tendon reflexes were hyperactive with bilateral ankle clonus and positive Babinski's sign. Mild cardiomegaly and hepatomegaly were also noted. Cerebral angiograms showed a large aneurysm of the great vein of Galen fed by a single enlarged arterial branch from the left posterior cerebral artery. After the evaluation of systemic circulatory status and under strict control of fluid transfusion craniotomy was performed. The feeding artery was clipped at its entrance to the aneurysm via left parieto-occipital interhemispheric approach. A rise in the mean arterial blood pressure of 20 mmHg was observed immediately following clipping. The postoperative course was satisfactory except for a left subdural fluid collection which required subduro-peritoneal shunt. The aneurysm was completely disappeared on the postoperative angiograms and the child is regaining the normal development. This is the first case of aneurysm of the great vein of Galen successfully operated in Japan. Clinical symptoms and signs, radiological features and operative treatment of the disease were reviewed from a total of 46 cases reported in the world literature.
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PMID:[Aneurysm of the great vein of Galen--report of a case (author's transl)]. 98 98

We report the presence of major cerebral migrational defects in five severely, multiply handicapped children with congenital cytomegalovirus (CMV) infection. These patients had both computed tomographic (CT) scan and magnetic resonance imaging (MRI) evidence of marked migrational central nervous system defects consistent anatomically with the spectrum of lissencephaly-pachygyria, a disorder commonly idiopathic or associated with chromosomal abnormalities or with unknown early gestational insults. Neuroradiologic features included broad, flat gyri, shallow sulci, incomplete opercularization, ventriculomegaly, periventricular calcifications, and white-matter hypodensity on CT scans or increased signal intensity on long-TR MRI scans. Evidence for congenital CMV infection included prenatal onset of microcephaly, periventricular calcifications, neonatal jaundice, hepatomegaly, elevated CMV-specific immunoglobulin M, or viral isolation from urine. Previous reports of the neurologic sequelae of CMV have emphasized varying degrees of psychomotor retardation, cerebral palsy and epilepsy due to polymicrogyria, periventricular calcification, microcephaly, or rarely, hydrocephalus. Our patients appear to represent extremely severe examples of the effects of CMV on neurologic growth, maturation, and development. Recognition of these severe migrational abnormalities was improved by use of MRI, a technique that affords superior definition of the nature and extent of gyral and white-matter abnormalities. We suggest that these abnormalities may be more common than has previously been recognized.
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PMID:Lissencephaly-pachygyria associated with congenital cytomegalovirus infection. 164 53

Toxoplasmosis is a special prenatal infection because it is susceptible to medication. Serologic screening and early diagnosis of a new infection is a prerequisite for successful treatment, which protects the fetus from infection. A case of a twenty-two year old gravida-II shows, that infection is possible despite negative initial screening. A new infection was diagnosed because of seroconversion at a routine screening at the end of the second trimester. An ultrasound scan showed severe hydrocephalus, hepatomegaly, and ascites. Labor was induced in the 33rd gestational week. Conatal toxoplasmosis was confirmed by histologic and microbiologic studies of the placenta and membranes. We discuss the difficulties resulting from negative primary serology.
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PMID:[Severe fetopathy--toxoplasma despite serologic screening. A case report]. 273 44

The case of a 3-year-old male child is reported who had a history of congenital hydrocephalus, treated by VP shunting. Severe complications with VP shunting are rare, but in this case the shunt had apparently perforated the liver, causing a pseudocyst to form and subsequent hepatomegaly. The shunt was revised surgically and the pseudocyst resected.
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PMID:Cerebrospinal fluid pseudocyst presenting as a hepatic mass: a complication of ventriculoperitoneal shunt. 275 46

Prolonged administration of either lithium (7 mg/kg body wt.) or ethanol (30% of daily caloric intake) for 10 days to pregnant rats results in several anatomical abnormalities in the fetus. Intragastric administration of lithium carbonate to pregnant rats immediately after confirmation of pregnancy resulted in high incidence of cleft palate, growth retardation, brain liquification and pulpy brain, hepatomegaly and digital abnormalities, when compared to the saline-treated controls. Furthermore, lithium administration during gestation also resulted in other less frequently observed abnormalities in the fetus, e.g., cardiomegaly, hydronephrosis, ankle-joint defects, syndactyly, defected ribs and sternum ossification defects. Chronic ethanol consumption by pregnant rats during early gestation also resulted in several anatomical abnormalities of prenatal growth retardation, resorption and still births, cleft palate, hydrocephaly and hydronephrosis. The severity and frequency of several of the fetal abnormalities were compounded when lithium and ethanol were administered simultaneously. The possible mechanisms of lithium and ethanol teratogenicity and their synergistic effects have been explained on a biochemical basis.
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PMID:Teratogenic effects of lithium and ethanol in the developing fetus. 308 78

We came across some cases clinically suggestive of intrauterine infection which were confirmed to be congenital cytomegalovirus infection. A clinical profile of these patients is presented. Intracranial calcification was not seen in any of these patients. Mental retardation was profound in all the patients and all had hepatomegaly. Uncommon findings encountered included hydrocephalus, patent ductus arteriosus and corneal opacities. Other clinical findings and investigation are also discussed.
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PMID:Congenital cytomegalovirus infection in Shimla Hills, Himachal Pradesh, India. 763 48

A retrospective study of 42 newborns who were admitted to the Hospital Universiti Sains Malaysia for spontaneous bleeding and prolonged prothrombin and partial thromboplastin times during 1987-1988 was conducted to determine the epidemiology, clinical features, laboratory findings, treatment, and outcome of hemorrhagic disease of the newborn (HDN). The infants came from households in the rural state of Kelantan. In Kelantan, the estimated overall annual incidence of severe HDN was 1/1900 live births. None of the infants had bleeding due to inherited coagulopathy or disseminated intravascular coagulation. The categories of HDN were classical HDN (48%), early onset HND (29%), and late onset HND (24%). The most frequent clinical manifestations of HDN were pallor, jaundice, umbilical cord bleeding, tense fontanelle, convulsions, and hepatomegaly. 81% of the infants were delivered at home. Only 7 infants received vitamin K at birth. Anemia was common, especially in cases with massive intracranial bleeds. Most intracranial hemorrhages were subdural hemorrhages. The mothers of all infants, except one, breast fed. All infants received intravenous vitamin K at an initial dose of 1-5 mg/daily, which returned the prolonged prothrombin time and partial prothrombin time to normal. 33 infants recovered completely. One infant with classical HDN was mentally retarded and had hydrocephalus. Another infant also with classical HDN was mentally retarded. The overall case fatality rate was 14%. The case fatality rate for late HDN was 30%. These findings stress the importance of vitamin K prophylaxis in the newborn.
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PMID:Haemorrhagic disease in newborn and older infants: a study in hospitalized children in Kelantan, Malaysia. 782 97

We report a 12-year-old girl with an unusual phenotype of Gaucher disease type 3. Liver glucocerebrosidase activity was 20% of the normal. In addition to common manifestations such as hepatomegaly, she showed primary communicating hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, and clinodactyly of hands and feet. We suspect cardiomyopathy to be due to myocardiac infiltration with Gaucher cells, and corneal opacities to result from an accumulation of lipid-like inclusions into the posterior stromal keratinocytes. We were only able to find one previously published sibship disclosing similar features, which could allow the delineation of a new clinical variant of Gaucher disease.
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PMID:Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency. 858 48

A regional population-based survey identified six patients with pyridoxine dependency. Four presented on the first day of life and the other two at 1 and 8 months of age. Apart from multiple seizure types, other presenting features included jitteriness; encephalopathy, at first thought to be hypoxic-ischaemic; hepatomegaly, and abdominal distension with bilious vomiting. Later problems included break-through fits with fever; transient visual agnosia; squint; severe articulatory apraxia; motor delay with later dyspraxia; macrocephaly, and post-haemorrhagic hydrocephalus. Magnetic resonance imaging showed variable structural abnormalities in all the early onset cases. Psychometric assessment revealed a stereotyped pattern of intelligence scale subtest scores, with a specific impairment of expressive verbal ability. In a prospective open study over one year, an increased dose of pyridoxine was associated with an improvement in IQ, particularly in performance subtests. Pyridoxine dependency is more common than has been thought. It has a wider range of clinical features than the classical neonatal seizures and causes specific impairments of higher function, some of which may be reversible. The dosage of pyridoxine should be optimal for IQ as well as seizure control.
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PMID:Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. 891 81

We present the case of a newborn with Costello syndrome who died due to heart arrhythmia. In the autopsy, a neuroblastoma was found. The male patient was born at term. During the first hours of life, he developed severe respiratory failure requiring mechanical ventilation. Phenotypic features included cranial and facial dysmorphia, short thorax, tachycardia, heart murmur, abdominal distention, hepatomegaly, short extremities, widespread petechias, diminished muscular tone, ungueal hypoplasia in toes, bilateral cryptorchidia, and generalized redundant skin. In the evolution he presented several sepsis episodes, difficulty for feeding, supraventricular arrhythmia, two heart arrests, and opisthotonos, and died at 65 days of life due to heart arrhythmia. The autopsy revealed hydrocephaly, a neuroblastoma, and a heart without anatomic alterations. Costello syndrome was diagnosed. Costello syndrome is not frequent; in this patient, the diagnosis was suspected in life and was confirmed postmortem, the topic is reviewed, the important aspect in this case is the association with a neuroblastoma.
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PMID:[Costello syndrome associated to a neuroblastoma. Presentation of a case]. 1113 63


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