1/8. Presacral schwannoma with purely cystic form.STUDY DESIGN: Case report. OBJECTIVE: To point out that presacral schwannoma can display markedly cystic degeneration. SUMMARY OF BACKGROUND DATA: Benign schwannoma sometimes displays degenerative changes, such as cyst formation, calcification, hemorrhage, and hyalinization. Usually these degenerations are partially seen in the tumors. methods: Medical history, physical findings, imaging features, and histologic findings were reviewed in a case with a large presacral schwannoma. RESULTS: A 62-year-old woman presented with an 18-month history of right sciatic pain. Magnetic resonance images detected a large cystic, presacral tumor. Initially the tumor was misdiagnosed as a cystic ovarian tumor. Preoperative diagnostic workup led to the diagnosis of cystic schwannoma. Intralesional curettage achieved good pain relief. CONCLUSIONS: This tumor was unusual in its totally cystic appearance and resemblance to a cystic ovarian tumor or anterior sacral meningocele. Preoperative diagnosis is important to prevent major neurologic deficit at surgery.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/8. Is it more than just constipation?We report an infant presenting with constipation, whose history and physical examination initiated the investigation that led to the diagnosis of the Currarino triad in the proband and 2 other family members.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/8. aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10.We studied a baby born with physical features suggestive of the aminopterin syndrome, but without exposure of the mother to aminopterin during pregnancy. G-banded chromosomes from peripheral blood lymphocytes had a normal 46,XX pattern. However, in 50 skin fibroblasts there was a normal female karyotype in 5 cells and 45 cells showed an apparently balanced reciprocal translocation involving the long arm of chromosome 5 (band q35) and the long arm of chromosome 10 (band q22). The relation of this mosaicism to the abnormal phenotype is unclear.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/8. The prenatal diagnosis of the walker-warburg syndrome.On the basis of physical features and autopsy findings, a child with congenital hydrocephalus, bilateral microphthalmia, myopathy, severe developmental retardation and multiple brain malformations was diagnosed to have the walker-warburg syndrome (WWS). During a subsequent pregnancy in this family, a fetus at risk for this autosomal recessive condition was evaluated with serial ultrasound examinations. At 15 weeks of gestation an encephalocele was noted. Disproportionately slow growth of the head compared to the body was noted at 36 weeks. At birth, the diagnosis of WWS was confirmed in the child due to the presence of microcephaly, an encephalocele, a meningocele and bilateral microphthalmia. This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are hydrocephalus, multiple central nervous system malformations, microphthalmia with ocular malformations, severe psychomotor retardation, congenital myopathy and a very limited life expectancy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/8. Anterior sacral meningocele. A presentation of three cases.Anterior sacral meningoceles are congenital lesions that consist of a spinal fluid-filled sac in the pelvis communicating by a small neck with the spinal subarachnoid space through a defect in the sacrum. The three patients with this disorder presented here had characteristic symptoms snd physical findings: chronic constipation, a pelvic mass, and almost unmistakable roentgenographic changes, but diagnosis was delayed from 11 months to 21 years in all three. After prolonged and complicated treatment, the primary lesions have been surgically eradicated and function is generally satisfactory.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/8. Congenital rectal stenosis: a sign of a presacral pathologic condition.Congenital rectal stenosis may be detected in the newborn during the initial physical examination. Failure of conservative therapy (dilatation) should alert the physician to the presence of an associated pathologic condition in the presacral space. Presacral teratoma, anterior sacral meningocele, or bony anomalies may be the underlying extrinsic causes of congenital rectal stenosis. Prompt recognition and appropriate operative management directed at the presacral lesion will relieve obstructive symptoms and minimize morbidity.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/8. Anterior sacral meningocele presenting as abdominal mass.Anterior sacral meningocele is a rare entity. It arises from a congenital defect of the sacrum and the coccyx through which herniation of the caudal portion of the meninges and their contents occurs, forming a cyst-like structure. The cystic mass, which lies between the rectum and sacrum, produces a variety of symptoms depending on its size and contents and constitutes a diagnostic problem. A case of anterior sacral meningocele is presented, including the physical signs, differential diagnosis, and the dangers of aspiration or surgical intervention.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/8. Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.Two cases of partial trisomy 8q are presented. Common clinical features included severe mental and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis of the back, coxa valga, and short fingers with brachymesophalangy and clinodactyly of the little fingers. Moreover, Case 1 had a frontal meningocele and bilateral talipes equinovarus, and Case 2 had a ventricular septal defect. The chromosome aberration in the two girls arose from a maternal balanced translocation, t(8;18) (q2309;p113). Since the major clinical features of mosaic trisomy 8 are absent in the two girls and in other cases of partial trisomy, both for the distal segment of the long arm and for the short arm of chromosome 8, it is concluded that trisomy of the proximal part of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |