| short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and polydactyly. This inheritable syndrome has distinct imaging findings on prenatal sonography, and ancillary findings on both pre- and postnatal assessments may enable individual cases to be classified into 1 of 4 subtypes. In this report, we present a recurrent case of SRPS that was associated with a cystic hygroma and choroid plexus cysts. Although cystic hygromas are not uncommonly seen in skeletal dysplasias, the presence of concomitant cystic hygroma and choroid plexus cysts suggests a chromosomal abnormality such as trisomy 18. ( info) |
2/249. Cystic hygroma in an adult: a case report. Cystic hygromas are benign lesions arising due to an abnormality in lymphatic development and only rarely present in adults. Adequate radiological imaging prior to surgery is important as incomplete excision often leads to recurrence. Several adjunctive therapies have been shown to be beneficial in recurrent or inaccessible lesions but these are not in common use. We describe the case of a cystic lymphangioma appearing in adulthood that presented a diagnostic and therapeutic challenge. ( info) |
3/249. Midline posterior cervical cystic hygroma. Cystic hygromas are among the most common congenital neck masses. They have a predilection for the left posterior triangle and manifest early in life. Although various locations of cystic hygromas are found in the literature, we believe our case of a 9-month-old girl represents the first reported occurrence of a posterior cervical midline cystic hygroma. ( info) |
4/249. prenatal diagnosis of dyssegmental dysplasia. A case report. BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally. The correct differentiation of the subtype of dwarfism is difficult at times. Dyssegmental dysplasia is probably an exception to these subtypes because the vertebral disorganization and occipital encephalocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarfism, was referred at 27 weeks' gestation for cystic hygroma. Further sonographic findings included: cystic hygroma with massive ascites, micromelia, occipital encephalocele, spinal disorganization and hydramnios. The fetus and both parents appeared to have a normal karyotype. Later the pregnancy was terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with protuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental dysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes possible as early as the first trimester. ( info) |
5/249. sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation. The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85 000 male births. This condition is associated with pre- and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio-vascular anomalies. In this report we present such a case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation. Although the prenatal diagnosis of cystic hygroma and its association with aneuploidy has been documented in numerous reports, sex chromosome aneuploidy, other than the 45,X karyotype, accounts for only 0.3 per cent of cases. ( info) |
6/249. Bilateral cystic lymphangioma of the adrenal gland. We report the case of a 22-year-old woman with a large, bilateral lymphangiomatous cyst originating from the adrenal glands. Since she was having persistent pain and the diagnosis was uncertain, we did surgery. ( info) |
7/249. Disseminated cystic lymphangiomatosis presenting with acute abdomen: report of a case and review of the literature. lymphangioma is an uncommon tumor. Lymphangiomatosis, a benign tumor consisting of a cluster of dilated lymphatic channels, is very unusual. Most lymphangiomatoses are found in the neck and head area. Less than 5% are diagnosed intraabdominally and they are very infrequently encountered in the retroperitoneal area. Herein, we report a rare case of a 32 year-old woman who had disseminated intra-abdominal and retroperitoneal cystic lymphangiomatosis, which presented as acute abdomen. She received exploratory laparotomy due to the suspicion of malignancy, which was finally confirmed as cystic lymphangiomatosis. The clinical manifestations, imaging features, and management of this patient are discussed and compared with previous literature. ( info) |
8/249. A huge cystic hygroma of the neck associated with intraventricular haemorrhage in a term neonate. We report on a female term neonate who presented with a huge cystic hygroma of the right neck associated with intraventricular haemorrhage as demonstrated by computerized tomography and magnetic resonance imaging studies. She underwent extraventricular drainage and excision of the neck mass with stable postoperative condition. Psychomotor retardation was found thereafter. To our knowledge, the association of a large cystic hygroma of the neck with intracranial haemorrhage has not been reported previously. The possible mechanism of the occurrence of the haemorrhage is discussed. ( info) |
9/249. Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy. We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts. ( info) |
10/249. Diagnosis and treatment of cystic lymphangioma of the ascending colon by laparoscopic-assisted surgery: a case report. lymphangioma of the colon is a rare disease. Its clinical silence and absence of specific symptoms and signs make it difficult to diagnose preoperatively. We present a case of cystic lymphangioma of the ascending colon associated with constipation in a 72-year-old man and review the pertinent literature. The patient underwent laparoscopic-assisted segmental resection of the colon. The characteristic histologic appearance of cystic lymphangioma provided the definitive diagnosis. The recovery course was uneventful. Two years postoperatively, the patient was symptom-free and without evidence of tumor recurrence. ( info) |