1/1210. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. methods: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
2/1210. Two similar cases of encephalopathy, possibly a reversible posterior leukoencephalopathy syndrome: serial findings of magnetic resonance imaging, SPECT and angiography.Two young women who had encephalopathy that resembled reversible posterior leukoencephalopathy syndrome are presented. The brain magnetic resonance imaging (MRI) of these patients exhibited similar T2-high signal lesions, mostly in the white matter of the posterior hemispheres. Xe-SPECT during the patients' symptomatic period showed hypoperfusion in the corresponding areas, and angiography demonstrated irregular narrowing of the posterior cerebral artery. Clinical manifestations subsided soon after treatment, and the abnormal radiological findings also were almost completely resolved. Thus, we concluded that transient hypoperfusion followed by ischemia and cytotoxic edema might have had a pivotal role in these cases.- - - - - - - - - - ranking = 8.6583609803875keywords = artery (Clic here for more details about this article) |
3/1210. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
4/1210. Gross hematuria of uncommon origin: the nutcracker syndrome.Left renal vein hypertension, also called "nutcracker phenomenon" or "nutcracker syndrome," is a rare vascular abnormality responsible for gross hematuria. The phenomenon is attributable to the idiopathic decrease in the angle between the aorta and the superior mesenteric artery with consequent compression of the left renal vein. The entrapment of the left renal vein is not easily detectable by ordinary diagnostic procedures. We report two cases of gross hematuria (persistent in one patient and recurrent in the other) caused by "nutcracker phenomenon." In both cases, no remarkable findings were obtained from medical history, urinary red blood cells morphology, repeated urinalysis, pyelography, cystoscopy, or ureteroscopy. Left renal vein dilation in one case was found with a computed tomography (CT) scan performed on the venous tree of left kidney. The diagnosis of "nutcracker phenomenon" was confirmed by renal venography with measurement of pressure gradient between left renal vein and inferior vena cava in both cases. In one case, the diagnosis was complicated by the presence of mycobacterium tuberculosis in urine. The "nutcracker phenomenon" is probably more common than thought. early diagnosis is important to avoid unnecessary diagnostic procedures and complications such as the thrombosis of the left renal vein. Many procedures are available to correct the compression of the left renal vein entrapped between the aorta and the superior mesenteric artery: Gortex graft vein interposition, nephropexy, stenting, and kidney autotransplantation. After surgery, gross hematuria ceases in almost all patients.- - - - - - - - - - ranking = 17.316721960775keywords = artery (Clic here for more details about this article) |
5/1210. The same mutation affecting the splicing of WT1 gene is present on frasier syndrome patients with or without Wilms' tumor.Denys-Drash and Frasier syndromes are rare human disorders that associate nephropathy with gonadal and genital abnormalities. In DDS there is a predisposition to Wilms' tumor. Heterozygous point mutations in the Wilms' tumor, type1 gene (WT1), particularly those altering the zinc finger (ZF) encoding exons, have been reported in most DDS patients, while mutations in intron 9 of the same gene cause FS. This paper describes two cases of DDS, one FS and one patient with Wilm's tumor and intersex genitalia, in which mutations were searched by sequencing the exons 8 and 9 of WT1 gene. Patient 1 carried a missense point mutation in exon 8 (ZF2), converting a CGA-Arg codon to a TGA-stop codon. Patient 2 presented a single nucleotide deletion within exon 9 (ZF3) introducing a premature chain termination at codon 398. patients 3 and 4 had a C-->T transition at position 4 of the second alternative splice donor site of exon 9 (this mutation was detected in peripheral blood and in tumor derived dna of patient 3). However, patient 3 had previously developed a Wilms' tumor. This is the first case of Wilms' tumor development in a phenotypically and genetically confirmed case of FS.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
6/1210. Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.The cases of two patients with Robinow fetal face syndrome, an 11-year-old Thai boy and a newborn Caucasian girl, are described. The Thai boy had the characteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdeveloped sinuses, short roots of the teeth, narrow and thick-floored pulp chambers, hypoplastic nipples, absent middle phalanges of the second to fifth toes, cone-shaped epiphyses of the second and fourth fingers and fifth toes, single creases of the fourth and fifth fingers, clinodactyly of the third fingers, dysmorphic umbilicus, and shawl scrotum. The girl had anomalies typical of the recessive type of the syndrome. She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type. Infrequently reported clinical manifestations of the syndrome are discussed.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
7/1210. Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.We describe 5 children from 2 families with mutations in the cd40 ligand (CD40L) gene leading to absent expression of CD40L on activated CD4 cells. All subjects presented with interstitial pneumonia with low serum IgG and normal serum IgM. One child had normal and one child had elevated serum IgA. Four had confirmed pneumocystis carinii pneumonia. In spite of intravenous immunoglobulin treatment yielding therapeutic serum immunoglobulin levels, 3 children had enteroviral encephalitis. When assessed by flow cytometry, the 3 surviving affected male children had absent CD40L expression on activated CD4( ) T cells. The affected children from both families were shown to have the same single nucleotide insertion (codon 131) resulting in frameshift and early termination within exon 4 (extracellular domain). This observation demonstrates that persistent enteroviral infection is not only observed in X-linked agammaglobulinemia but may also occur in patients with X-linked hyper IgM syndrome.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
8/1210. Autosomal dominant muscle cramp syndrome in a Japanese family.OBJECTIVES: To identify the clinical, electrophysiological, histological, and genetic characteristics of a Japanese family with a muscle cramp syndrome. methods: Fourteen patients (eight men, six women) were studied in four generations of a single family. Electrophysiological examinations were performed in four cases and muscle and nerve biopsies were performed on the propositus. RESULTS: The mode of inheritance seemed to be autosomal dominant. The cramps occurred during both exertion and at rest, and during sleep. Electromyographic examination indicated a neurogenic aetiology. There was a decreased number of large myelinated fibres in the sural nerve, and fibre type grouping in the quadriceps femoris muscle biopsy. CONCLUSIONS: The autosomal dominant muscle cramp syndrome in this family is probably caused by a polyneuropathy.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
9/1210. Treatment of may-thurner syndrome with catheter-directed thrombolysis and stent placement, complicated by heparin-induced thrombocytopenia.may-thurner syndrome is an uncommon process in which the right common iliac artery compresses the left common iliac vein, resulting in left iliofemoral deep vein thrombosis and severe leg edema. We report the case of a 41-year-old female who presented with severe left leg edema present for 1 day. One week earlier she had experienced acute shortness of breath and pleuritic chest pain. Duplex ultrasound revealed a left iliofemoral deep vein thrombosis. A computed tomography (CT) scan performed for abdominal pain revealed thrombosis of the entire left common and external iliac veins. A ventilation-perfusion scan diagnosed a pulmonary embolism. The patient was treated with systemic intravenous heparin and catheter-directed thrombolysis of the iliofemoral deep vein thrombosis. Complete thrombolysis and iliofemoral vein patency was achieved over 5 days. A persistent stenosis in the left common iliac vein consistent with may-thurner syndrome was alleviated with percutaneous balloon angioplasty and placement of a Wallstent. heparin therapy was terminated at the time of stenting because of suspected heparin-induced thrombocytopenia. The patient was started on a continuous infusion of 10% dextran 40, and warfarin therapy was initiated. heparin-induced antibodies were confirmed by a C-14 serotonin release assay. The endovascular reconstruction remains patent 4 months later. heparin-induced thrombocytopenia complicating endovascular reconstruction of the iliofemoral venous system in a patient with may-thurner syndrome is an uncommon occurrence. This case and a review of the literature are discussed.- - - - - - - - - - ranking = 8.6583609803875keywords = artery (Clic here for more details about this article) |
10/1210. X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had prominent glabella, synophrys, prognathism, generalized hirsutism, and bilateral single palmar creases. All developed seizures in childhood. The two oldest have had a slow deterioration in neurological status with poor gait and balance and progressive weakness. No deterioration in their mental status has been observed. The oldest had cerebellar atrophy confirmed on computed tomography and magnetic resonance imaging scans of the brain and prolonged nerve conduction velocity. Two of the males had hypogammaglobulinemia (IgA deficient). Two-point linkage analysis using 27 microsatellite markers on the x chromosome resulted in a maximum lod score of 2.23 at straight theta = 0 for locus DSX101. Recombination was observed at locus DSX1170 in Xq21.33 and locus DXS8067 in Xq23. We conclude that this family represents an X-linked disorder associated with a recognizable phenotype, progressive neurological deterioration, and variable hypogammaglobulinemia. The gene appears to lie between Xq21.33 and Xq23.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
| | Next -> |