Hodgkin's disease presenting with fulminant liver disease.
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Child↗
Biomedical subjects
J E Dimmick
Publications and source records attributed to J E Dimmick.
Pasteurella multocida chorioamnionitis from vaginal transmission.
A 21 year old primigravida with a twin pregnancy developed Pasteurella multocida chorioamnionitis. Infection occurred at 27 weeks gestational age after prolonged rupture of membranes. The twin in the separate sac presenting proximal to the cervix suffered infection and died shortly after birth whereas the other twin was not infected. The bacterium is believed to have caused ascending infection from asymptomatic colonization of the vaginal tract.
Adult↗
Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature.
Hereditary hemochromatosis was diagnosed in three asymptomatic siblings following the unexpected finding of elevated serum iron concentrations. This diagnosis was confirmed by hepatic biopsy. Repeated phlebotomies resulted in a significant decline of serum iron and ferritin concentrations and a decrease of hepatic iron content. This report and a review of the literature indicate that the diagnosis of hereditary hemochromatosis must be considered more frequently in childhood. Organ dysfunction from iron overload may be minimized in children by the early commencement of regular phlebotomy.
Child↗
Hepatic dysfunction in Alström disease.
Alström disease is a rare disorder; less than 20 cases have been reported. An 11-year-old girl is described with this condition. She has pigmentary retinopathy, sensory neural deafness, obesity, Type II diabetes mellitus, hyperlipidemia, and acanthosis nigricans. However, in addition she developed hepatic dysfunction, pathologically similar to chronic active hepatitis. This may be a further, previously undescribed systemic manifestation of Alström disease.
Acanthosis Nigricans↗
Unique features of Helicobacter pylori disease in children.
In a six-year period, 41 children had endoscopically documented duodenal ulcer disease or primary H. pylori antral gastritis without duodenal ulcer. Of 37 children with H. pylori gastritis, group 1 comprised 23 patients with duodenal ulcer disease and group 2 had 14 patients without ulcers (primary H. pylori gastritis). Group 3 comprised four children with duodenal ulcer disease and H. pylori-negative antral biopsies. During the study period, all primary chronic ulcer disease was duodenal; no primary chronic gastric ulcer was present. Two distinct types of duodenal ulcer disease were identified; the majority (85%) was always associated with significant active H. pylori antral gastritis (group 1). The minority (15%) had virtually absent gastritis and no H. pylori (group 3). Native Indian children were represented in group 1 quite out of proportion to the referral population and had the most severe disease. While it is established that a higher prevalence of asymptomatic H. pylori infection exists in non-Caucasians, this appears to be the first demonstration of a higher prevalence of symptomatic ulcer disease in non-Caucasian children or adults. Caucasian children tended to have primary H. pylori gastritis (group 2) or duodenal ulcer without H. pylori (group 3). Antral nodularity was found to be an important specific endoscopic sign, unique to those children with H. pylori disease. It has not been described in adult H. pylori disease. Non-Caucasian children, especially Native Indians, in British Columbia have more prevalent and more severe H. pylori disease than Caucasians. Endoscopy with gastric antral biopsies is necessary to distinguish different types of duodenal ulcer disease and to diagnose primary H. pylori gastritis.
Adolescent↗
Severe perinatal liver disease and Down syndrome: an apparent relationship.
Down syndrome (DS) is not usually thought of in association with significant infantile liver disease. We present clinical and histopathologic data from 10 patients with DS who presented with severe liver disease at birth or within the first few weeks of life, and summarize the findings of eight previously reported cases. The liver disease was fatal in all but one case. Diffuse lobular fibrosis surrounding proliferating ductular elements and residual hepatocytes characterized the pathologic findings in the liver in all patients. A large number of megakaryocytes were present in the liver in nine of 12 patients. The phenotype of "perinatal hemochromatosis" was documented in eight of nine cases in which the presence of iron was investigated. Since only a fraction of the patients with this phenotype have DS, the patients we describe seem to represent a relatively well-defined subset of the perinatal hemochromatosis phenotype. The existence of such a subset suggests that the perinatal hemochromatosis phenotype does not represent a single etiopathogenetic disorder. The association between DS, megakaryocytic infiltrates in the liver, and fatal subacute/chronic liver disease gives rise to the speculation that fibrosis-promoting factors and/or metabolic abnormalities, such as those resulting from a gene dosage effect, may play a role in the genesis of the liver disease, perhaps due to a particular susceptibility of fetal liver.
Down Syndrome↗
Neuroblastoma in a child with Wiedemann-Beckwith syndrome.
We report on a patient with Wiedemann-Beckwith syndrome (WBS) who developed abdominal neuroblastoma. Although WBS patients are known to have a higher incidence of embryonal tumors, this is only the 4th known case of neuroblastoma associated with this syndrome. Chromosomes on peripheral lymphocytes and tumor cells were normal. Children with WBS should be screened for a variety of embryonal neoplasms, not only Wilms tumor.
Abdominal Neoplasms↗
Postoperative intussusception in a premature infant.
Intussusception occurs most commonly between the fifth and ninth month of life. Affected infants are usually healthy and born at full gestation age. We describe a case of intussusception occurring in a 10-day-old, 700-g neonate born at 28 weeks' gestation. The diagnosis was made at laparotomy 7 days after colostomy for imperforate anus. There were three associated bowel perforations. This case demonstrates that postoperative intussusception can occur in the premature infant. It also serves to illustrate the difficulty in making the diagnosis preoperatively.
Anus, Imperforate↗
Acute aluminum toxicity after continuous intravesical alum irrigation for hemorrhagic cystitis.
An encephalopathy and cardiomyopathy developed in a seventeen-year-old girl with chemotherapy-induced renal failure while receiving an intravesical aluminum infusion for hemorrhagic cystitis. Premortem serum and postmortem tissue aluminum levels were markedly elevated. It is likely that her inability to excrete absorbed aluminum contributed to her death. Aluminum infusions should be used with caution in patients with renal failure.
Administration, Intravesical↗
Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.
An infant girl had the clinical and immunologic findings of congenital rubella syndrome but also had arthrogryposis multiplex and calcific epiphyseal stippling. Spastic quadriparesis developed, and both physical and behavioral development were slow. Increased spasticity of the legs at 5 1/2 years was related not to progressive rubella encephalomyelopathy but to spinal cord compression by abnormal cartilaginous tissue. The presence of a peroxisomal disorder was demonstrated by a greatly increased level of phytanic acid and slightly increased levels of hexacosanoate in serum and by reduced activity of peroxisomal dihydroxyacetone phosphate acyltransferase and a slightly increased ratio of cytosolic to peroxisomal catalase activity in cultured fibroblasts. A reduction in the number and size of peroxisomes was demonstrated in cultured fibroblasts, and a needle biopsy specimen of the liver also showed the peroxisomes to have a smaller diameter than usual. We recommend that any child with epiphyseal stippling be assessed for peroxisomal disease and that the potential for spinal cord compression by dysplastic bone or cartilage be recognized. The association of peroxisomal dysfunction with congenital rubella has not been described previously. The interaction between rubella virus infection and peroxisomal function may need further investigation.
Calcinosis↗
Histologic appearance of varioliform gastritis.
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Child↗
The high incidence of valproate hepatotoxicity in infants may relate to familial metabolic defects.
The incidence of fatal hepatic failure associated with valproic acid (VPA) therapy is highest in children under the age of three years, particularly in those with developmental delay. The pathogenesis of VPA hepatotoxicity is unclear but may relate to the accumulation of a toxic metabolite of VPA which impairs fatty-acid oxidation. We describe two unrelated infants with developmental delay who developed hepatic failure while receiving VPA. Siblings of both children subsequently developed hepatic steatosis and intractable seizures without being exposed to VPA. This suggests that the two children who developed liver failure when receiving VPA may have had a familial metabolic disorder. Familial metabolic disorders may account partly for the higher incidence of fatal hepatotoxicity described in infants receiving VPA.
Chemical and Drug Induced Liver Injury↗
Wilms tumorlet, nodular renal blastema and multicystic renal dysplasia.
We reviewed 60 cases of multicystic renal dysplasia collected during a 10-year period. Differentiated nonproliferative nodular renal blastema occurred in 6.7 per cent of the cases, which is similar to the incidence of nodular renal blastema in kidneys of other infants with congenital obstructive uropathy. A unique case of cystic dysplasia containing nodular renal blastema and Wilms tumorlet indicates the possibility that a persistently proliferative nephroblastomatous lesion may rarely occur.
Child↗
Laboratory detection of metabolic disease.
This article describes the clinical signs, abnormal chemistry, histopathology, and biochemical tests that assist in the diagnosis of many inherited metabolic diseases. Small molecule diseases (for example, amino acid disorders, organic acidurias, and galactosemia) may present with acute illness and lead to unexplained death. Diagnosis of the specific enzyme defect may permit treatment by dietary changes or vitamin supplementation. Large molecule diseases are degenerative disorders due to storage of glycogen, glycoproteins, or mucopolysaccharides. Table 7 presents a compendium of laboratory investigations one should consider using when abnormalities are found in multiple organ systems. The investigation of a child with a mucopolysaccharidosis is used as an example of the use of this table. Investigating pediatricians should realize that many laboratory tests involved in the diagnosis of metabolic disease required special collection and handling by the laboratory.
Amino Acid Metabolism, Inborn Errors↗
Malignant rhabdoid tumor of the orbit.
Malignant rhabdoid tumor (MRT), originally described as a sarcomatous variant of Wilms' tumor, is now recognized as a distinct, highly malignant entity. The authors describe, for the first time, a primary tumor of the orbit with histologic, immunohistochemical, and ultrastructural features of MRT. Their findings suggest both epithelial and mesenchymal differentiation of this unique tumor.
Biopsy↗
Juvenile galactosialidosis in a white male: a new variant.
We describe a 19-year-old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial "coarseness," corneal clouding, mitral and aortic insufficiency, and hepatosplenomegaly. Ultrastructural studies of skin biopsy and peripheral blood lymphocytes showed membrane-bound inclusions containing sparse fibrillogranular material. Biochemical analysis showed elevated urinary sialyloligosaccharides and no free sialic acid. Fibroblast enzyme analysis showed low activities of both alpha-neuraminidase and beta-galactosidase. To date, most patients with juvenile galactosialidosis have been Japanese. However, unlike those patients, our patient did not have macular cherry-red spots, neurologic abnormalities, or mental retardation. We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant.
Adult↗
Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.
We describe a 4-year-old boy with Russell-Silver syndrome (RSS) found to have hepatocellular carcinoma. The brother of this child also had manifestations of RSS. This is the third malignancy and the first hepatocellular carcinoma described in a patient with RSS. The coexistence of hepatocellular carcinoma and RSS may be completely fortuitous; however, the known association of liver cancer with growth abnormality and hemihypertrophy, findings also present in RSS, suggest that these disorders may be related.
Abnormalities, Multiple↗
Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: an approach to biopsy diagnosis.
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Hemochromatosis↗