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PubMedDate not supplied

Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis.

Two siblings are described with clinical features of Joubert syndrome associated with unilateral ptosis, severe visual disturbances with normal appearing fundi, and an occipital meningocele; one child also had polydactyly. Neither child manifested responses to electroretinography and one did not manifest visual evoked potentials. The siblings were considered to have characteristics of Leber congenital amaurosis and Joubert syndrome as well as unilateral ptosis. The presence of these findings in siblings suggests a genetic basis for their disease. Careful investigations should be conducted on infants with dysplasia of the cerebellar vermis, including tests for respiratory irregularities, retinal abnormalities, and renal abnormalities to further clarify the interrelationships of these conditions.

Abnormalities, Multiple↗
PubMed2004

A rare spontaneous temporal meningoencephalocele with dehiscence into the pterygoid fossa.

We present an extremely rare case of basal meningoencephalocele that protruded into the left pterygoid fossa from the middle cranial fossa. After a 30-year-old woman experienced a generalized tonic-clonic seizure, computed tomography (CT) scanning showed a large bone defect of the left middle cranial base. A mass lesion with low signal intensity on T1- and high signal intensity on T2-weighted magnetic resonance imaging (MRI) was visualized in the left pterygoid fossa. A biopsy was performed through the transantral approach. Because cerebrospinal fluid (CSF) was observed to flow from the mass lesion, it was diagnosed as a meningoencephalocele. CT showed bone defects in the skull base and a well-circumscribed expansile mass lesion. MRI demonstrated that the brain parenchyma extended into a CSF-filled meningocele. These findings demonstrate that CT and MRI provide adequate information for the diagnosis of meningoencephaloceles.

Adult↗
PubMedDate not supplied

Treatment of A-pattern esotropia with marked mongoloid slanting palpebral fissures.

BACKGROUND: The association of oblique palpebral fissures and A- or V-pattern has not been clarified. We report two cases of A-pattern esotropia with marked mongoloid slanting palpebral fissures associated with vertical displacement of the horizontal rectus muscle. CASES: Case 1 was a boy with Prader-Willi syndrome. He showed A-pattern esotropia with upward slanting palpebral fissures. Severe superior oblique muscle overaction was observed. Case 2 was a girl with meningocele. She also showed A-pattern esotropia with upward slanting palpebral fissures. OBSERVATIONS: In case 1, weakening surgery of the superior oblique muscles did not improve the A-pattern. Coronal images of computed tomography showed one-half-muscle-width upward displacement of both lateral rectus muscles. After downward transposition surgery of the lateral rectus muscles, the preoperative A-pattern of 25 prism diopters (PD) was successfully corrected to 10 PD. In case 2 also, upward displacement of both lateral rectus muscles was shown by computed tomography. The preoperative A-pattern of 26 PD was corrected to 4 PD postoperatively after upward transposition surgery of the medial rectus muscles. CONCLUSIONS: The vertical displacement of horizontal rectus muscles was considered the principal cause of A-pattern in these cases associated with marked mongoloid slanting palpebral fissures.

Child, Preschool↗
PubMed1989

An unusual sincipital meningoencephalocele: a case report.

A congenital nasoglabellar mass is usually either a meningocele or an encephalocele. Occasionally, lipoma, sarcoma, dermoid, glioma, or scalp angioma may resemble an encephalocele. This report describes a rather unusual sincipital meningoencephalocele in an 8-month-old boy.

Abnormalities, Multiple↗
PubMed2004

[Orbital meningoencephalocele: two case studies].

Primitive orbital meningocele is a rare congenital malformation. It is defined as a herniation of meninges into the orbit through a congenital defect in the orbital bones. In meningoencephalocele, there is atrophic brain tissue in the herniated meningeal sac. We report the cases of two babies who presented with a medial orbital tumoral syndrome. Computed tomography showed a cystic tumor close to a bony defect in the anterior frontoethmoidal junction. A transcranial approach confirmed the diagnosis of meningoencephalocele; it was resected and the bony and dural defects were closed. The outcome was uneventful. Orbital meningoencephalocele is probably linked to an abnormal closure of the rostral neuropore. It generally presents in the first months of life with very suggestive radiological and clinical features. Surgical treatment using a transcranial approach is indicated in all cases and provides definitive recovery.

Encephalocele↗
PubMed2003

Cervical myelomeningocele--follow-up of five patients.

Only a few series of patients with cervical myelomenigocele (cMMC) and cervical meningocele (cMC) have been published. Interventions as well as the neurologic, orthopaedic, urologic and intellectual outcomes were analysed in this retrospective description of five patients with cMMC and cMC diagnosed in the period 1984-1999. Four patients suffered from cMMC, one from cMC. The average duration of follow-up was 9.5 years. None of the patients had periconceptual prevention with folic acid. Three had a Chiari II malformation and two a hydrocephalus. Tethering of the cervical cord was demonstrated in three patients at follow-up. All children achieved an independent ambulatory function and urinary continence. Incomplete sensorimotor hemiparesis was present in two children, and a mild unilateral arm paresis in one. Two of five patients had age appropriate cognitive functions. Three patients with mild mental retardation or behavioural problems had to be placed in special classes. The outcome of patients with cMMC is favourable regarding to the neurologic, orthopaedic and urologic problems compared with lower neural tube defects. However, the burden of repeated examinations and therapies is considerable and induces high costs, therefore prevention with periconceptual folic acid is a crucial issue also in cMMC. Spinal cord dysfunction has to be considered in growing children due to persistent tethering or re-tethering, therefore regular neurologic and urodynamic investigations are of particular importance.

Activities of Daily Living↗
PubMed2003

[Orbital meningocystocele].

Encephalocele is defined as a protrusion of cranial contents beyond the normal confines of the skull. Encephaloceles occur with an incidence of approximately 1 in 3,000-10,000 births and are categorized based on location in the skull. Orbital meningoencephalocele is a rare congenital abnormality caused by a defect of the cranio-orbital bones that usually manifests soon after birth as a soft mass associated with exophthalmos. We present a case of a giant orbital meningocele presenting as an orbital mass in a 15 months-old girl. Preoperative diagnosis was confirmed by CT-scan and magnetic resonance imaging.

Female↗
PubMed1995

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

Sacral agenesis is a rare disorder of uncertain incidence that has been reported in diverse populations. Although usually sporadic and most commonly associated with maternal diabetes, there is a hereditary form which may occur in isolation or with a presacral mass (anterior meningocele and/or presacral teratoma) and anorectal abnormalities, which constitute the Currarino triad (MIM 176450). The radiological hallmark of hereditary sacral agenesis is a hemi-sacrum (sickle-shaped sacrum) with intact first sacral vertebra. Bowel obstruction is the usual neonatal presentation, but, unlike other neural tube defects, adult presentation is not uncommon. The major pathology is confined to the pelvic cavity and may present as a space-occupying lesion or meningitis due to ascending infection. All recurrences in families have been compatible with autosomal dominant inheritance except for those associated with the isomerism gene at Xq24-q27.1 (ref. 3). Several associated cytogenetic defects have been reported, including 7q deletions. Previous studies failed to detect linkage to HLA markers, but we now present evidence for a location on 7q36. The same region also contains a gene for holoprosencephaly, an early malformation of the extreme rostral end of the neural tube.

Abnormalities, Multiple↗
PubMed1998

Prenatal diagnosis of atypical cystic lesions of the fetal scalp.

Two cases of cystic lesions of the fetal scalp are described. They were initially thought to be meningoceles, but the brain was normal on ultrasound examination and there were no associated abnormalities. In the first case, by 26 weeks' gestation, the original cystic lesion had regressed to a dense tissue mass; in the second case, the cyst remained as a small anechoic mass. Postnatal assessment in the first case revealed a plexiform skin lesion measuring 40 x 15 mm on the left parietal bone. This was mobile and not attached to the underlying structures. The skull showed no obvious defect and a cranial scan was normal. In the second case, an epidermal cyst was diagnosed.

Adult↗
PubMed2001

Perineo-pelvic diaphragmatic split: anorectal exstrophy.

Anorectal malformations are among the most common congenital anomalies that require neonatal surgery. Although the headlines of anorectal malformations present with a spectrum of defects of this region, generally, imperforate anus and its fistulous or nonfistulous connections are examined. Here the authors present a boy with anorectal malformation, with sacrococcygeal teratoma and meningocele. Interestingly, the patient had neither imperforate anus nor anorectal stenosis, but had widely open anorectum. This kind of anorectal malformation has never been described previously in the English-language literature.

Anal Canal↗
PubMed2006

Endonasal endoscopic management of a large meningocephalocele in a patient with concomitant middle skull base defect.

The presence of a skull base defect can lead to major complications such as cerebrospinal fluid leak, meningocele, encephalocele and meningitis. It is exceptional to find the existence of two concomitant defects in the skull base. We present the case of a patient with concomitant spontaneous defects of the anterior and middle skull base that were surgically repaired. After 18 years of right rhinorrhea the patient was referred after being diagnosed with a large right nasal fossa meningoencephalocele, which was surgically removed by functional endoscopic sinus surgery. Following the surgery the patient complained about unilateral ear fullness. A paracentesis revealed a highly suspicious cerebrospinal fluid collection. High resolution scans revealed a defect in the mastoid tegmen; subsequently a transmastoid approach was carried out. Greater defects or those lying around the internal auditory canal, are best treated via the middle fossa approach. In the anterior cranial fossa the treatment of choice is provided by endoscopic procedures, but frontal bone craniotomy should be considered if the defect is in the frontal sinus or greater than 5 cm in size.

Cerebrospinal Fluid Rhinorrhea↗
PubMed1991

Prenatal diagnosis of fetal cephalocele: a sonographic spectrum.

We present the findings in a series of 15 fetuses diagnosed as having a cephalocele. Eleven cephaloceles were located in the occipital region and two each at the vertex and the frontonasal region. Eleven fetuses were diagnosed before 24 week's gestation. Nine families opted for an interruption. Of the two fetuses that went to term, one had a benign meningocele and is growing normally at 18 months, the other died in the neonatal period of associated cardiac anomalies. Of the four fetuses diagnosed after 24 weeks, one is normal (after surgery) at 9 months, two are severely handicapped, and one died in the immediate postpartum period.

Diagnosis, Differential↗
PubMed1989

[Long-term experiences with lyophilized soft dura (Lyodura S) as a connective tissue substitute in pediatric surgery].

Between 1979 and 1985 plastic closures with lyophilised softened dura mater were performed in 45 children with the following indications: gastrochisis: 8; omphaloceles: 2; meningomyeloceles: 29; meningoceles: 3; diaphragmatic aplasia: 1; oesophageal atresia with tracheo-oesophageal fistula: 2. Infection as well as rejection of the implants were never observed. Mortality came up to 11%. Complications and causes of death are described. A follow-up was carried out postoperatively at semi-annual intervals. The scars showed good functional and cosmetic results.

Abdominal Muscles↗
PubMedDate not supplied

[Pseudomeningocele following lumbar intervertebral disk surgery].

Pseudomeningoceles have been observed several times after closed traumatic injuries of the cervical plexus resulting in avulsion of the nerve roots. Following lumbar puncture or lumbar disc operation meningoceles are seldom occurring events. The first report of perineural cysts causing sciatic pain was made by Bancroft (1) in 1941. Since that time about 50 cases have been reviewed by the literature (10, 11). In this paper we report another case of an iatrogenic pseudomeningocele developed following surgical treatment for herniated lumbar disc attempting to outline their clinical and radiological findings.

Adult↗
PubMed1984

[Pseudomeningoceles--a rare complication following lumbar intervertebral disk operations].

Pseudomeningoceles arising in connexion with an intervertebral disc operation are a very rare complication in our own material, with an incidence of less than 0.1%. The patients complaints resemble very closely those of an intervertebral disc prolapse, with symptoms of lumbago and lumbo-ischial pain, with, at times, definite root irritation. The diagnosis is usually made, on average 2-3 years after the preceding operation. The myelographic findings confirm the diagnosis, but the introduction of spinal CT is promising for the future. After removal of the meningocele and closure of the dura, complete freedom from symptoms is usually achieved.

Adult↗
PubMed1996

The Currarino syndrome--hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature.

The Currarino triad is a hereditary transmitted syndrome, originally defined by Currarino as ASP-association, consisting of an anorectal malformation, a sacral bony defect and a presacral mass. In most cases autosomal dominant transmission is suggested. In family members one or two features of the syndrome may be missing, indicating an incomplete form of this complex. We describe two unrelated girls at the age of 8 and 9 months respectively with ASP-association. Family screening in both patients showed 8 additional cases with a complete or incomplete Currarino triad, four of them being asymptomatic. A review of the literature up to 1991 revealed 48 patients with ASP-association. In more than 80% of cases, this complex is diagnosed in the first decade, whereas incomplete Currarino syndrome is diagnosed predominantly in adults. Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). The number of patients with Currarino syndrome has been underestimated so far. We recommend anorectal examination, pelvic ultrasound and pelvic x-rays in all patients with a history of chronic constipation since early childhood. Positive findings should lead to further investigations such as barium enema, MRI, myelography and family screening. Close cooperation between pediatric surgeons and neurosurgeons is required to ensure adequate surgical treatment, considering both the risk of malignant degeneration as well as the risk of intraoperative nerve damage. Thus, radical excisional surgery is not obligatory in every case of Currarino syndrome.

Abnormalities, Multiple↗
PubMed1976

Etiologic heterogeneity of neural-tube defects.

We classified 106 stillborn and live-born infants with anencephaly, meningomyelocele, meningocele and encephalocele according to the recognized causes of these malformations. Six different causes were identified, including both genetic and nongenetic disorders; 12 per cent had nongenetic disorders, a chromosome abnormality, or an encephalocele as part of the autosomal recessive Meckel syndrome. Therefore, for this 12 per cent genetic counseling normally provided for isolated anencephaly, meningomyelocele or encephalocele would have been incorrect. If all infants were considered together regardless of cause, the precurrence and recurrence rates of similar malformations in the sibs were 5.2 and 1.7 per cent respectively. However, if infants with other disorders, especially the Meckel syndrome, were excluded, the precurrence and recurrence rates for isolated anencephaly, meningomyelocele and encephalocele among white infants were only 1.7 per cent and 0 per cent. These rates are much lower than the risk of 5 per cent currently being used in genetic counseling in the United States.

Abnormalities, Multiple↗