Cases reported "Urogenital Abnormalities"

Filter by keywords:

Retrieving documents. Please wait...

1/203. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.

    A male patient with aphallia, anal stenosis, tetralogy of fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries. ( info)

2/203. 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. ( info)

3/203. Two sibs with Malpuech syndrome.

    We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome. ( info)

4/203. A case of association of duplication of the urogenital and intestinal tracts.

    Report of the case of a Caucasian girl, presently 3 years old, who has been followed at the Pediatric Service of the Walter Cantidio Hospital (Federal University of Ceara; Fortaleza, brazil) since she was 15 days old. At birth she presented a duplication of the bladder, urethra, external genitalia, vagina, colon, and rectum. No cardiac anomalies, bone deformities, or other congenital malformations were detected. When she was 16 months old the child underwent corrective surgery, with rectal vault reconstruction, placing a single and continent anal sphincter in its usual position and resection of the longitudinal vaginal septum, forming a single vaginal cavity. The surgery also resulted in a perineum of normal appearance. Presently, the patient is doing well. ( info)

5/203. A case report of caudal regression syndrome associated with an intraspinal arachnoid cyst.

    We report here a rare case of caudal regression syndrome associated with an intraspinal arachnoid cyst. The patient was a 6-month-old baby girl with multicomplex congenital abnormalities: sacrococcygeal dysgenesis and ventral curvature, large terminal cyst (myelocystocele), spinal arachnoid cyst, cerebellar hypertrophy (suspected), high imperforate anus, partial dysgenesis of the large intestine, omphalocele, atresia of the vagina, bilateral incomplete ureter duplication, incomplete pseudoduplicated bladder and bilateral talipes equinovarus. We performed plastic repair of the myelocystocele and perineal lesion for caudal regression syndrome and partial removal of the cyst wall for the intraspinal arachnoid cyst. She has been well for 3 years postoperatively, and her mental development is normal. ( info)

6/203. Congenital megalourethra.

    Congenital non-obstructive dilatation of penile urethra (megalourethra) can result from absence of corpus spongiosum alone (scaphoid) or along with the absence of corpora cavernosa (fusiform). Associated urogenital or other systemic anomalies are usually present and require detection and appropriate management. Urethroplasty (Nesbitt) gives desirable results. Condition has been reviewed with report of a case. ( info)

7/203. Congenital short colon with imperforate anus (pouch colon). Report of a case.

    We report a case of a persistent cloaca and pseudoexstrophy associated with congenital pouch colon in a native-born American female child. This unusual anomaly occurs in two clinical settings. It has been reported in india as an isolated anomaly occurring primarily in males. Pouch colon also occurs in female patients with pseudoexstrophy or closed cloacal exstrophy. The typical anatomic features of this anomaly are discussed. ( info)

8/203. Recurrent urinary tract infections and genitourinary tract abnormalities in the Imerslund-Grasbeck syndrome.

    Two Imerslund-Grasbeck patients who presented with recurrent urinary tract infections and genitourinary abnormalities are described. The patients were evaluated with abdominal ultrasounds, voiding cystourethrograms, and Schilling tests. Each patient had large postvoid residual urine secondary to a motor-neurogenic bladder. One had a duplication of the distal urethra manifesting as two meatal openings. There was lack of urinary excretion of radioactive vitamin B12 on Schilling tests in both patients. patients with Imerslund-Grasbeck syndrome may be predisposed to urinary tract infections because of incomplete bladder emptying. Complete physical and radiological examinations of the genitourinary tract should be performed. ( info)

9/203. Unusual hand malformations with cardiac defects--a variant of heart--hand syndrome IV.

    Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of heart--hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review of relevant literature. ( info)

10/203. Long-term results of treatment of single-system ectopic ureters.

    Single-system ureteral ectopia (UE) encompasses a spectrum of malformations involving the bladder trigone, ureter, and kidney. The clinical presentation is variable, and both diagnostic and therapeutic problems are common. Reduced renal function in these patients may result from primary dysplasia, obstruction, vesicoureteral reflux, or recurrent infection. Based on our experience of seven patients, suggestions for diagnostic procedures and criteria for renal saving versus nephrectomy are offered. The relationship between ostium localization, renal function, and long-term results was investigated. From 1972 to 1990, five female and two male patients were studied. During the same period, 31 patients with UE and duplex kidneys were seen. Ages ranged from 1 day to 7 years. A ureteric opening into the bladder neck was associated with dilatation of the ureter and renal pelvis. Two patients had vaginal ectopia and severe renal dysplasia. In one, a cyst of the vaginal wall (Gardner's cyst) was detected at birth. A male newborn had multicystic renal dysplasia on the left and ureteric ectopia to the ductus deferens on the right side. To our knowledge, he is the first patient reported with renal function totally dependent on a kidney with severe UE. Follow-up ranged from 4 to 9 years. One patient died in the postoperative period because of renal failure and sepsis. All the others are well and have normal creatinine values. Improvement of renal function was noted after ureteral reimplantation (URI) in patients with bladder-neck ectopia. The numbers of infections were also drastically reduced. Our observations suggest that the combination of ultrasound, cyst urethrography, and cystoscopy will be diagnostic in most patients. A suspicion of UE should be raised in symptomatic patients with apparently solitary kidneys, enuresis ureterica, or atypical obstructive uropathy. Reduced renal function in some patients with ectopia to the bladder neck will improve after URI. This may be of importance in patients with bilateral anomalies and marginal renal function. ( info)
| Next ->

Leave a message about 'urogenital abnormalities'

We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.