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PubMed2003

Lumbosacral lipomas: in utero diagnosis and prognosis.

INTRODUCTION: For the purposes of prenatal counselling and prognostication, it is essential to keep in mind the key diagnostic criteria allowing recognition of the diverse forms of spinal dysraphism. DIAGNOSIS: It is most crucial not to confuse lipomas and myelomeningoceles, the former carrying a usually favourable prognosis, while the latter a high risk of serious neurological deficits. In our experience, these two conditions can be clearly distinguished on prenatal ultrasound and by fetal biology. Lipomas are skin-covered, which explains the normality of the amniotic fluid and probably that of the intracranial content (no Chiari, no hydrocephalus). These features are distinct from those observed in the case of myelomeningoceles. The distinction between a lipoma and a meningocele is more difficult. The prenatal ultrasound presentation of many lipomas actually resembles that of a meningocele. In a few cases, the diagnosis of lipoma can, however, be suspected by the presence of an abnormally thick skin covering and intradural echoic structures that evoke a low-lying cord. CONCLUSIONS: However, the consequences of confusing a lipoma and most of the other types of occult dysraphism are minimal. Most of these lesions carry a favourable outcome.

Female↗
PubMed2005

Cervical spina bifida cystica: MRI differentiation of the subtypes in children.

BACKGROUND: Cervical spinal dysraphism is a rare condition with only 37 cases reported in the literature, of which only seven patients had undergone preoperative magnetic resonance imaging (MRI). OBJECTIVE: By using illustrative cases, we demonstrate the value of MRI in distinguishing the two different subtypes of cervical spinal dysraphism, namely, myelocystocele and meningocele. METHOD: Retrospective review of the MRI scans of six patients with cervical (one high thoracic) posterior cystic swellings, which were diagnosed as cervical dysraphism, was done. RESULTS: Three patients were diagnosed with myelocystocele and three patients with meningocele. A comparison of MRI features between the two entities, as well as the associated anomalies, is discussed. CONCLUSION: MRI is the imaging modality of choice for suspected cervical dysraphism, prior to surgery. It helps distinguish the subtypes, as well as identify the associated anomalies.

Adolescent↗
PubMed2001

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.

Abnormalities, Multiple↗
PubMed2006

[Meningeal herniation associated to chronic otitis media in an otology center in the City of Mexico].

To assess the frequency and clinical characteristics of meningocele and meningoencephalocele into the middle ear, at an otological referral center of Mexico city. After analyzing 586 recordings of middle ear surgery, we identified that 3 (0.5%) had defects of the tegmen timpani, 2 had brain abscesses (0.34%) and 1 had (0.17%) a facial palsy. Two of the patients with defects of the tegmen timpani had herniation of the intracraneal tissue. Case 1. A 38 year old woman with a history of bilateral chronic otitis media, with 2 surgeries in the left ear. She was seeking medical care because of right hearing loss. However, computed tomography and magnetic resonance showed a defect of the tegmen timpani with temporal lobe herniation in the left ear. Case 2 was a 46 year old woman with no history of ear disease, just high blood pressure. She was seeking medical care because of right hearing loss, vertigo and headache. The clinical evaluation suggested tissue in the middle ear and the computed tomography showed a defect of the tegmen timpani, meningocele was confirmed by surgery. In the 2 patients the clinical characteristics did not suggest herniation of intracraneal tissue as the first diagnosis. This show us the importance of an intended evaluation and image studies to make an early diagnosis.

Adult↗
PubMed1989

Neonatal diagnosis of a presacral mass in the presence of congenital anal stenosis and partial sacral agenesis.

The simultaneous presentation of clinically symptomatic anal anomalies and roentgenographically demonstrated sacral dysgenesis should alert the pediatric surgeon to investigate for the presence of a presacral malformation. We report on such a case to illustrate a new radiographic technique that facilitates diagnosis and management of complex congenital malformations. A 1-day-old white boy presented with anal stenosis, a scimitar-shaped sacrum, and large anterior and posterior meningoceles. In addition, a distinct presacral tumor--a teratoma--was identified. These malformations were identified utilizing metrizamide myelography and three-dimensional reconstruction computed tomography (CT) scanning. The meningoceles and a tethered cord were successfully corrected utilizing a posterior approach. A diverting colostomy was performed and subsequently taken down. Two years postoperatively, the patient continues to do well. This case demonstrates that this triad of anomalies (presacral mass, sacral dysgenesis, and anorectal malformation), once considered, can be safely detected with modern radiologic techniques and can be expeditiously corrected during infancy before further deterioration occurs.

Abnormalities, Multiple↗
PubMed1997

Currarino triad: anorectal malformation, sacral bony abnormality, and presacral mass--a review of 11 cases.

Currarino et al, in 1981, described an association of a congenital anorectal stenosis, or another type of low anorectal malformation, an anterior sacral defect, and presacral mass. Eleven patients with this anomaly were treated at the Department of Pediatric Surgery, Seoul National University Children's Hospital from 1984 to 1995. Among these patients, low-type imperforate anus (IA) was seen in three cases and anorectal stenosis was present in eight cases. Presacral masses included seven teratomas, two meningoceles, one dermoid cyst, and one enteric cyst with dermoid cyst. All had a deformed sacrum. Among the eight with anorectal stenoses, posterior sagittal anorectoplasty (PSARP) with diverting colostomy was performed in seven cases, and repeated rectal dilatation was performed in one case. Among the three low-type IA, anoplasty was performed in two cases and PSARP was performed in one case. Although PSARP is a safe and satisfactory method facilitating the excision of the presacral mass, in meningoceles the repair should be performed before correction of anorectal malformation because of the risk of meningitis that can occur when surgeries are done simultaneously. In two cases, untethering of a tethered spinal cord was performed. All patients are continent. Because the incidence of Currarino triad is high when there is an anorectal stenosis (38% in the present series), the Currarino triad should be suspected in anorectal stenosis. Magnetic resonance imaging is a preferred diagnostic method because the incidence of association of tethered cord in this triad is high (18% in the present series).

Anal Canal↗
PubMed1999

A case in the spectrum of the oculo-encephalo-hepato-renal syndrome.

An 18-year-old male is presented with unprecedented central nervous system findings (cerebral dysplasia and sacral meningocele) possibly in the spectrum of the oculo-encephalo-hepato-renal syndrome. He had severe mental retardation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failure. Magnetic resonance imaging demonstrated cerebral dysplasia (left dominant abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brainstem. A sacral meningocele was observed first at 16 years of age. His renal function gradually worsened after 11 years of age. His liver function was normal. The previously reported 72 cases with the oculo-encephalo-hepato-renal syndrome are reviewed.

Abnormalities, Multiple↗
PubMed2001

Familial presacral masses: Screening pitfalls.

BACKGROUND/PURPOSE: Anterior sacral meningocele (ASM) and presacral teratoma (PT) are related malformations. Both can have familial occurrence. Surgical treatment of occult cases is essential. Hence, it is important to screen the asymptomatic relatives. Plain radiograph of the sacrum to look for any bony abnormalities is the usual accepted screening modality. The authors report ASM and PT in siblings (with positive family history) with no sacrococcygeal bony abnormality on imaging. Both the siblings had presacral mass on imaging. METHODS: The medical records of 2 siblings with ASM and PT were reviewed for the clinical presentation, diagnostic workup, and family history. RESULTS: One sibling was symptomatic, whereas the other was completely asymptomatic. A family history of sacral bony abnormalities and anterior meningoceles was present in father, 2 paternal cousins, paternal uncle, paternal aunt, paternal grandmother, and paternal grand uncle. CONCLUSIONS: These case reports suggest that imaging for screening for ASM and PT should be directed at identifying the presacral mass rather than sacral bony defect. Hence, computed tomography or magnetic resonance imaging looking for presacral mass rather than plain radiograph should be the screening modality. J Pediatr Surg 36:1841-1844.

Adolescent↗
PubMed2004

[Currarino syndrome: variability of imaging findings in 22 molecular-genetically identified (HLXB9 mutation) patients from five families].

PURPOSE: The imaging documents, obtained in connection with a primarily molecular genetic study on Currarino syndrome, should be evaluated with special respect to the constancy resp. the variability of findings in patients with proven HLBX9 mutations. METHODS: In five female non-related index patients with clinico-radiologically diagnosed Currarino syndrome and further 53 members of their families, changes of the homeobox gene HLXB9 had been analysed. Variable mutations of this gene were found in a total of 23 individuals including the five index patients. In 22 of them the preexisting radiological documents could be collected as well as further imaging (plain sacrococcygeal radiography and/or lumbosacral MRI at least) initiated. This was followed by a detailed evaluation of pathological findings in the os sacrum/coccyx as well as in the presacral, the intraspinal, the anorectal, and the urogenital region, finally. RESULTS: Imaging investigations revealed concomitant phenotypic abnormalities in all and even nine clinically asymptomatic individuals with proven HLXB9 mutations. A sacrococcygeal defect of varying intensity was depicted in every case. Complete Currarino triad (i. e. sacrococcygeal defect, presacral mass = anterior meningocele and/or tumor, anorectal malformation) was only found in the five index patients and three further relatives. In all other cases, one or more of the following anomalies were detected with variable combination and with decreasing frequency: anterior meningocele (12), presacral tumor (11), tethered cord (10), intraspinal lipoma (8), anorectal stenosis/atresia (8), syringocele (5), rectal fistula (3), urogenital (2). CONCLUSION: Currarino syndrome should be considered as a differential diagnosis in all patients with chronic constipation since early infancy and its imaging index finding, i. e. a sacrococcygeal defect, should be looked for with plain radiography, first. In positive cases or other phenotypic suspicious constellations molecular genetic analysis for HLBX9 mutations should be the next step. If positive again, this should be followed by complete adequate imaging in the patient as well as by plain sacrococcygeal radiography in, at least, symptomatic family members.

Abnormalities, Multiple↗
PubMed1988

[Magnetic resonance tomography of the perineural cyst].

It may be difficult to differentiate between symptomatic perineural cysts, arachnoidal cysts, meningoceles, neurinomas and other cystic masses within the spinal canal and spinal foramina. Therefore the impact of MRI on the differential diagnosis of these lesions is discussed on the basis of 15 cases with perineural cysts, 1 case of an arachnoid cyst, 2 cases of meningoceles and 2 cases of neurinomas. The problem of fluid characterisation by the use of special MR measurements is emphasised.

Adult↗
PubMed1996

Occult spinal dysraphism--the common combination of lesions and the clinical manifestations in 50 patients.

Fifty patients (26 males, 24 females) aged from birth to 51 years with occult spinal dysraphism were identified. All had Magnetic Resonance (MR) scans carried out. The MR scans were examined to determine the vertebral level of the conus and to see if one or more of the following were present; lipoma, syrinx, dermoid, diastematomyelia, and meningocele. In 43 patients the conus lay below the level of L3, 23 had a lipoma, 23 a meningocele, 20 an open central canal in the spinal cord or a syrinx, 15 a diastematomyelia and 4 a dermoid. The commonest combination of lesions was a long cord, a syrinx or an open central canal in the spinal cord and a lipoma. The diastematomyelias were always associated with a long cord and had the highest incidence of vertebral body anomalies (60%). The most frequent recorded signs were deformities of the feet, short legs, wasting of the calf muscles, weakness of the legs, back pain and bladder dysfunction. Combinations of these occurred with all of the lesions although some had none. Whilst deterioration was seen in about half of the patients, acute deterioration was uncommon and was associated most frequently with a dermoid or an expanded syrinx.

Abnormalities, Multiple↗
PubMed2006

Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion.

We describe the clinical presentation of a boy with Peters anomaly and a cataract of the left eye in association with multiple midline defects. His extraocular developmental abnormalities include cleft lip and palate, cardiac anomalies, an atretic cranial meningocele, as well as malformation of the left ear with chronic otitis media. Genetic analysis revealed a balanced paracentric inversion of chromosome 4, inv(4)(q12q13.3), also present in his asymptomatic father and siblings. His normal stature and cognitive development distinguish this case from the Peters Plus syndrome. The presence of a cranial meningocele represents a new association with Peters anomaly.

Abnormalities, Multiple↗
PubMed1983

Sacral abnormalities in Marfan syndrome.

Five women with Marfan syndrome had abnormalities of the sacrum disclosed by computed tomography. Each had evidence of expansion of the central sacral spinal canal and enlargement of sacral foramina associated with extensive bony erosion. Three patients complained of low back pain, two were asymptomatic. Sacral meningoceles were demonstrated in three cases (including two of the three with symptoms). A fourth patient had a thoracic meningocele. The sacral abnormalities are attributed to defective collagen resulting in expansion of weakened dura which leads to pressure erosion of contiguous osseous structures.

Adult↗
PubMed1990

Occult, bilateral anterior sacral and intrasacral meningeal and perineurial cysts: case report and review of the literature.

None of the more than 180 cases of anterior sacral meningocele reported in the past 150 years has been bilateral, and only two have been associated with occult intrasacral meningocele. We report a unique case of bilateral anterior sacral cysts, communicating with the subarachnoid space, associated with occult intrasacral meningeal and perineurial (Tarlov's) cysts, in an asymptomatic woman. The pertinent clinical and diagnostic imaging literature is reviewed.

Adult↗
PubMed2002

Encephalomeningocele cases over 10 years in Thailand: a case series.

BACKGROUND: Encephalomeningocele, especially in the frontoethmoidal region, is a form of neural tube defect which affects patients in Southeast Asia more commonly than in Western countries. Its underlying cause is not known but teratogenic environmental agents are suspected. However, nutritional deficiency, as in spina bifida, cannot be excluded. METHODS: This study reports 21 cases of meningocele (without brain tissue in the lesion) and encephalomeningocele (with brain tissue) that were admitted to our hospital for surgical corrections in the period of ten years, from 1990 to 1999. Clinicopathological findings, as well as occupations of family members and prenatal exposures to infectious agents or chemicals were reviewed and analyzed. RESULTS: The most commonly involved area was the frontoethmoidal region, found in 20 cases. The combined pattern between nasoethmoidal and nasoorbital defects was found most frequently (11 from 21 cases) and had more associated abnormalities. Encephalomeningocele had more related abnormalities than meningocele with proportions of 0.6 and 0.3, respectively. CONCLUSIONS: Here, we confirmed that genetic defects are not likely to be the single primary cause of this malformation. However, we could not draw any conclusions on etiologic agents. We suggest that case control studies and further investigation on the role of nutritional deficiencies, especially folic acid, in the pathogenesis of encephalomeningocele are necessary to clarify the underlying mechanisms.

Encephalocele↗
PubMed1981

Conservative management of aplasia cutis congenita: case report.

A male newborn with a large scalp and skull defect and a cervical meningocele was transferred to the neonatal intensive care unit of the North Carolina Baptist Hospital. The scalp defect measured 8.5 x 9.5 cm, and the sagittal sinus was exposed. Because the defect was considered too large to be covered with a rotation skin flap, it was treated thrice daily with the topical application of bacitracin ointment and circumferential dressings. By the end of 3 months, the skull defect was covered with skin. The cervical meningocele was then removed without incident. At the 9-month follow-up examination, the scalp defect was well healed and the skull defect was closing slowly; the neurological findings were still normal for the patient's age.

Bacitracin↗
PubMed1984

Cephaloceles: treatment, outcome, and antenatal diagnosis.

A series of 74 cephaloceles (17 cranial meningoceles and 57 meningoencephaloceles) is reported. Infants born with large meningoencephaloceles containing recognizable cerebral tissue usually did badly despite endeavors to conserve brain function by expanding the cranial capacity (5 cases) or decompressing hydrocephalic ventricles (9 cases). Infants with cranial meningoceles almost all did well, even when there was associated hydrocephalus. The etiological diversity of cephaloceles is emphasized. Frontoethmoidal meningoencephaloceles, which occur with noteworthy frequency in South and Southeast Asia, require separate consideration in both genetic counseling and treatment; the associated facial deformities (hypertelorism and orbital dystopia) can be corrected with a one-stage craniofacial reconstruction. Antenatal diagnosis by ultrasound is now often possible and was achieved in 4 cases; we suggest that neurosurgeons should participate in such antenatal evaluations.

Australia↗