Case 7.11

2014 ◽  
pp. 328-329
Author(s):  
Christine U. Lee ◽  
James F. Glockner
Keyword(s):  
Mental Retardation ◽  
Congenital Abnormalities ◽  
Wilms Tumor ◽  
Abdominal Mass ◽  
Annual Incidence ◽  
Renal Parenchyma ◽  
Male Pseudohermaphroditism ◽  
Cerebral Gigantism ◽  
Abdominal Malignancy ◽  
Palpable Abdominal Mass

4-year-old girl with vomiting, diarrhea, fever, and a palpable abdominal mass Axial fat-suppressed FSE (Figure 7.11.1) and axial postgadolinium 3D SPGR (Figure 7.11.2) images show a large heterogeneous mass originating from the anterior right kidney. Wilms tumor Wilms tumor is the most common abdominal malignancy in children, with an annual incidence of 8 cases per 1 million persons. Most patients (80%) present between ages 1 and 5 years, usually with an incidentally discovered abdominal mass. Bilateral tumors are found in 5% of cases, and these are associated with an earlier presentation, a higher incidence of associated congenital abnormalities, and a higher incidence of nephroblastomatosis (multiple rests of persistent embryonic renal parenchyma). Among children with Wilms tumor, 12% have associated congenital abnormalities, including GU abnormalities (5%), hemihypertrophy (2%), and aniridia (1%). Syndromes associated with Wilms tumor include Beckwith-Wiedemann (macroglossia, exomphalos, and gigantism), Denys-Drash (male pseudohermaphroditism and glomerular disease), WAGR (Wilms tumor, aniridia, GU abnormalities, and mental retardation), Sotos (cerebral gigantism), and Bloom (immunodeficiency and facial telangiectasia)....

scholarly journals Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803 ◽  
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

INTUSSUSCEPTION IN CHILDHOOD

PEDIATRICS ◽  
1960 ◽  
Vol 25 (4) ◽  
pp. 592-597
Author(s):  
M. Moreno Robins ◽  
Henry P. Plenk
Keyword(s):  
Abdominal Pain ◽  
Barium Enema ◽  
Abdominal Mass ◽  
Signs And Symptoms ◽  
Safe Procedure ◽  
General Hospitals ◽  
Small Series ◽  
Bloody Stools ◽  
Palpable Abdominal Mass ◽  
Roentgenographic Examination

A city-wide study of intussusception in childhood is reported. The classic signs and symptoms (vomiting, abdominal pain, bloody stools, palpable abdominal mass) are reported in percentages approximating those previously reported by other authors. Intussusception in childhood occurred about once in every 13,000 admissions to general hospitals. Of 26 cases, 3 had surgery without barium enema. In 11 of 23 patients who had roentgenographic examination the intussusception was reduced by enemas (48%). In one patient the lesion recurred after 24 hours. No deaths were encountered in this small series. Provided certain precautions are followed, barium enema is a safe procedure which will save about one-half of the patients a surgical procedure and unnecessary prolonged hospitalization.

CEREBRAL GIGANTISM IN CHILDHOOD

PEDIATRICS ◽  
1967 ◽  
Vol 40 (3) ◽  
pp. 395-402
Author(s):  
Aubrey Milunsky ◽  
Valerie A. Cowie ◽  
Elaine C. Donoghue
Keyword(s):  
Growth Hormone ◽  
Mental Retardation ◽  
Neurological Disorder ◽  
Pathogenic Mechanism ◽  
Plasma Growth Hormone ◽  
High Arched Palate ◽  
Cerebral Gigantism ◽  
Hypothalamic Pituitary Axis ◽  
Neurological Lesion ◽  
Mechanism Operative

Two cases of cerebral gigantism in childhood are reported, and 14 earlier cases are reviewed. The major manifestations of this non-progressive neurological disorder included gigantism, macrocrania, dolichocephaly, mental retardation, characteristic facies, high arched palate, and ataxia or clumsiness. Pneumoencephalography in 10 out of 11 cases revealed a dilated ventricular system. Normal fasting plasma growth hormone levels were found in our patients, but both showed evidence of impaired function of the hypothalamic-pituitary axis in that these levels failed to rise following marked hypoglycemia. Abnormal dermatoglyphic patterns are reported and their value as an aid to diagnosis is mooted. Both the cause and the nature of the neurological lesion remain obscure. The evidence favors a pathogenic mechanism operative in utero.

CEREBRAL GIGANTISM

PEDIATRICS ◽  
1968 ◽  
Vol 41 (1) ◽  
pp. 130-138
Author(s):  
John N. Stephenson ◽  
Raymond C. Mellinger ◽  
Gordon Manson
Keyword(s):  
Mental Retardation ◽  
Bone Age ◽  
Communicating Hydrocephalus ◽  
Cerebral Gigantism ◽  
Central Nervous System Dysfunction ◽  
Anterior Pituitary Function ◽  
Adrenal Response ◽  
Steroid Excretion ◽  
Physical Findings ◽  
Dexamethasone Suppression

Studies are reported of 10 children having physical findings previously reported in cases classified as showing cerebral gigantism. These findings included mental retardation; advanced height, weight, and bone age; and a characteristic facies. Six had pneumoencephalography and all showed communicating hydrocephalus. Karyograms were normal. Urinary 17-KS steroid excretion was increased for chronologic age, but levels were compatible with physiologic age. Adrenal response to dexamethasone suppression and metyrapone administration was normal. The condition is regarded as a reflection of congenital central nervous system dysfunction with mental retardation and altered hypothalamic control of anterior pituitary function.

Wilms' Tumor in a Patient with an Incomplete Form of Beckwith-Wiedemann Syndrome

PEDIATRICS ◽  
1980 ◽  
Vol 66 (1) ◽  
pp. 121-123
Author(s):  
Cirilo Sotelo-Avila ◽  
F. Gonzalez-Crussi ◽  
Kenneth A. Starling
Keyword(s):  
Hepatocellular Carcinoma ◽  
Solid Tumors ◽  
Wilms Tumor ◽  
Adrenal Cortical Carcinoma ◽  
Incomplete Form ◽  
Abdominal Malignancy ◽  
Breast Fibroadenoma ◽  
Second Tumor

Patients with incomplete forms of Beckwith-Wiedemann syndrome (BWS) associated with solid tumors have been described in the literature, but they have not been sufficiently appreciated. A review of reports of children with asymmetry and intra-abdominal malignancy disclosed 12 patients who might represent BWS either incompletely manifested or insufficiently described1-12 (Table). Seven of these patients had nephroblastomas,1-7 two had adrenal cortical carcinomas,8,9 two had hepatoblastomas,10,11 and one had hepatocellular carcinoma.12 Three of these children had, or subsequently developed, a second tumor. One had nephroblastoma and adrenal adenoma1 another a bilateral cortical carcinoma metastatic to the liver and a lumbar lipoma9; the last one a nephroblastoma followed by the appearance of adrenal cortical carcinoma and breast fibroadenoma.7

scholarly journals Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)

2019 ◽  
Vol 09 (02) ◽  
pp. 114-116
Author(s):  
Esra Nagehan Akyol Onder ◽  
Mine Ozkol ◽  
Nalan Nese ◽  
Can Taneli ◽  
Osman Orkun Cankorur ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Renal Fibrosis ◽  
Granulomatous Inflammation ◽  
Rare Condition ◽  
Renal Parenchyma ◽  
Xanthogranulomatous Pyelonephritis ◽  
Deletion Syndrome ◽  
Inflammatory Infiltration ◽  
Small Deletion ◽  
Foamy Macrophages

AbstractXanthogranulomatous pyelonephritis (XGP) is characterized by destruction of the renal parenchyma and granulomatous inflammation with lipid-laden foamy macrophages as well as inflammatory infiltration and intensive renal fibrosis. It generally occurs in adults, especially those in the fifth and sixth decades of life, but is occasionally seen in children as well. Brachydactyly mental retardation (BDMR) syndrome (OMIM 600430) is caused by a small deletion of chromosome 2q37 and is a rare condition, with roughly 100 cases reported worldwide. Here, we describe the case of a patient with deletion of chromosome 2q37, which is known as the BDMR syndrome, and XGP.

Constipation With a Palpable Abdominal Mass in a Young Woman

2019 ◽  
Vol 157 (4) ◽  
pp. e12-e13
Author(s):  
Yan-Jiun Huang ◽  
Hwa-Lin Kao ◽  
Wen-Ke Wang
Keyword(s):  
Young Woman ◽  
Abdominal Mass ◽  
Palpable Abdominal Mass

Case 2: Early-onset Liver Failure With Palpable Abdominal Mass in a Neonate

NeoReviews ◽  
2016 ◽  
Vol 17 (10) ◽  
pp. e624-e626
Author(s):  
Amitava Sur ◽  
Meghan Gilley ◽  
S. Rod Rassekh ◽  
Horacio Osiovich
Keyword(s):  
Liver Failure ◽  
Early Onset ◽  
Abdominal Mass ◽  
Palpable Abdominal Mass
Sign in / Sign up

Export Citation Format

Share Document