Cases reported "Abnormalities, Multiple"

Filter by keywords:



Filtering documents. Please wait...

1/29. Presacral tumor associated with the Currarino triad in an adolescent.

    A 17-year-old woman presented with pain over the sacral region. Plain radiographs of the sacrum demonstrated a bony deformity of the sacrococcygeal region in the shape of a scimitar. magnetic resonance imaging showed a cystic mass of the presacral region which appeared to be continuous with the dural sac. An anteroposterior view myelogram revealed caudal elongation of the dural sac, and on the lateral view it was recognized as an anterior meningocele. At surgery, we confirmed a connection between the presacral mass and the rectum. In light of the combination of a sacral bony deformity, presacral mass including meningocele, and mass-rectum connection, we made the diagnosis of the Currarino triad, which is a rare complex of congenital caudal anomalies. The patient underwent excision of the presacral mass. Histologic examination of the resected specimen revealed features of an epidermoid cyst.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

2/29. Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly.

    BACKGROUND: Caudal duplication is a spectrum of rare congenital anomalies with a possible heterogeneous pathogenesis including incomplete separation of monovular twins. methods: We report an autopsy case of a full-term infant with incomplete caudal duplication syndrome associated with multiple anomalies. RESULTS: These anomalies included a duplicated penis; double urinary bladder with an attenuated tunica muscularis; duplication of lower bowel with two ilia, appendices and colons; colonic hypogangliosis and left imperforated anus associated with rectourethral fistula. Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, muscle atrophy and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and right atrial isomerism syndrome. The complex pattern of anomalies suggests the possibility that partial caudal duplication might be part of the spectrum of conjoined twinning.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

3/29. A rare association of urogenital duplication and anorectal malformation.

    An unusual case of urogenital duplication in association with anorectal malformation is presented. A 3-year-old girl was referred to the authors' hospital with double vagina, double urethra, double sacrum, double ureters on the right side, multiple vertebral anomalies, together with anorectal malformation. Successful surgical reconstruction was performed.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

4/29. Atelosteogenesis type II: sonographic and radiological correlation.

    Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes. We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post-mortem radiological findings were correlated. The patient had a recurrence of this disorder in a subsequent pregnancy which was terminated at 15 weeks, supporting previous reports of an autosomal recessive inheritance pattern. The feasibility of diagnosing the following morphological features by prenatal ultrasonography is demonstrated: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centres in the pelvis, and preaxial deviation of the thumbs and toes. The differential diagnosis of this disorder from other skeletal dysplasias with similar features is discussed.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

5/29. Recurrent meningitis associated with complete Currarino triad in an adult--case report.

    A 58-year-old woman presented with Currarino triad manifesting as recurrent meningitis. Currarino triad is a combination of a presacral mass, a congenital sacral bony abnormality, and an anorectal malformation, which is caused by dorsal-ventral patterning defects during embryonic development. She had a history of treatment for anal stenosis in her childhood. Radiographic examinations demonstrated the characteristic findings of Currarino triad and a complicated mass lesion. The diagnosis was recurrent meningitis related to the anterior sacral meningocele. neck ligation of the meningocele was performed via a posterior transsacral approach after treatment with antibiotics. At surgery, an epidermoid cyst was observed inside the meningocele. The cyst content was aspirated. She suffered no further episodes of meningitis. The meningitis was probably part of the clinical course of Currarino triad. radiography of the sacrum and magnetic resonance imaging are recommended for patients with meningitis of unknown origin. The early diagnosis and treatment of this condition are important.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

6/29. MR imaging of diplomyelia.

    We present an unusual case of duplication of the fifth lumbar vertebra and sacrum in a 6-year-old boy. The spinal cord was also duplicated and tethered by bone spurs bilaterally. The imaging features and the embryological basis of diplomyelia are discussed.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

7/29. Currarino syndrome: proposal of a diagnostic and therapeutic protocol.

    BACKGROUND/PURPOSE: The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (arm), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced. methods: A series of 6 patients with CS is presented. Five of them were treated initially in other centers. None of them had an early diagnosis. All presented associated anomalies; in 50%, Hirschsprung's disease (HD) and other dysganglionoses were present. One patient died of a presacral ectopic nephroblastoma. RESULTS: Depending on the expressivity, 3 types of CS can be identified, complete, mild, and minimal. Dysganglionoses and HD can be considered part of CS. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of CS families, magnetic resonance (MR) evaluation of patient spine and pelvis, suction rectal biopsies, and search for associated anomalies. CONCLUSIONS: This protocol could give a valid contribution to the treatment of CS, allowing an early diagnosis and proposing a rational timing of multidisciplinary surgical procedures. early diagnosis and treatment are essential to avoid morbidity and mortality from an undiagnosed presacral mass.
- - - - - - - - - -
ranking = 2
keywords = sacrum
(Clic here for more details about this article)

8/29. Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.

    We report on four patients from three families, with similar radiological findings: absent (or severely delayed) ossification of vertebral bodies and associated anomalies. The babies were stillborn or died soon after birth of respiratory insufficiency. Two patients are sibs (female and male) born to first cousin Malian parents. The two others were non-consanguineous. This perinatally lethal entity comprises short neck, short wide thorax, and normally shaped limbs. Associated, inconstant anomalies are myelomeningocele, cystic kidneys with nephrogenic rests (in the sibs), and cleft palate. Radiologically, the hallmarks are absence of ossification of the vertebral bodies and sacrum, abnormal position of the vertebral pedicles, which are lamellar and angulated, ribbon-like ribs reduced in number, narrow pelvis, upward widening of the iliac wings, and unusual tilt of the ischiopubic rami, contrasting with the normal appendicular skeleton. Maroteaux briefly described one of the patients in the 2002 edition of "Maladies osseuses de l'enfant" and three sibs with similar renal and radiological findings were reported in 2003 in this Journal. Combined with the latter cases, these four new patients allow delineation of a specific lethal AR syndrome with ossification defect of the axial skeleton and renal dysplasia. We propose to name this entity diaphanospondylodysostosis.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)

9/29. Currarino syndrome associated with penoscrotal inversion and perineal fissure.

    We present an unusual case of Currarino syndrome with a mucosa-lined deep perineal fissure extending to the sacrum, penoscrotal transposition, perineal hypospadias, and a penile ventral skin defect. The child had a sigmoid diverting colostomy because of high anal atresia. magnetic resonance imaging illustrated absence of the levator ani and muscle complex in the pelvis. At 15 months, perianal examination pointed out a fistula orifice and a sac related to the fistula at the left side of the perineal fissure. The fistula, a fluid-filled sac extending to the sacrum, and mucosa overlying the perineal fissure were removed en bloc. The neck of the sac was ligated and divided at the level of the distal sacrum. In the same session, a Glenn-Anderson procedure was performed for penoscrotal transposition, and the penile chordee was released. X-ray showed a bony deformity of the sacrococcygeal region in the shape of a scimitar. Histopathological examination demonstrated that the sac contained glial neuronal islands and nerve fibers. The boy has no neurologic deficits and seems to be well. To our knowledge, these associated malformations are extremely rare.
- - - - - - - - - -
ranking = 3
keywords = sacrum
(Clic here for more details about this article)

10/29. An unusual combination: aortic arch coarctation associated with Dandy-Walker variant.

    We report on a 29-year-old woman with aortic arch coarctation with cerebral anomalies including posterior fossa cyst, hydrocephalus, cerebellar vermis hypoplasia and multiple congenital anomalies including hirsutism, hipotelorism, shortened philtrum, unregulated teeth and short alveolar crest, rotated auricles, short and webbed neck, hypopigmentation on the scalp, bilateral clinodactyly, bilateral hallux valgus, brachydactyly on the left foot 3rd finger, hemangioma on the sacrum. An extra-anatomical bypass was made by grafting from the ascending to the distal descending aorta. Some of these features are consistent with the diagnosis of the other clinical syndromes except genetical expression, no chromosomal deletions in our patient with normal familial pedigree, however, cerebral anomalies are consistent with the Dandy-Walker variant. To the best of our knowledge, literature contains no other report of the association of aortic coarctation, Dandy-Walker variant with these clinical features. These previously undescribed combinations, however, raise the possibility of a newly recognized disorder.
- - - - - - - - - -
ranking = 1
keywords = sacrum
(Clic here for more details about this article)
| Next ->


Leave a message about 'Abnormalities, Multiple'


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