A case of Dandy-Walker malformation associated with occipital meningocele,microphthalamia, and cleft palate

We present a case of Dandy-Walker malformation associated with occipital meningocele, microphthalmia, and cleft palate. Small numbers of cases of Dandy-Walker malformation with occipital meningocele have been described in the literature, but to our knowledge, non of these also had microphthalmia or cleft palate. This association suggests that time of intrauterine origin of Dandy-Walker syndrome was in the sixth or seventh embryonic week. In the diagnosis, both CT cisternography and direct neurosonography over the occipital meningocele was useful for the demonstration of a posterior fossa cyst which communicated with the fourth ventricle and the occipital meningocele.     

Anterior sacral meningocele: excision by the abdominal approach

Anterior sacral meningocele is a unilocular or multilocular extension of the dura mater and arachnoid out of the sacral spinal canal into the retroperitoneal and infraperitoneal space. It contains CSF, which in some of the reported cases has been discolored (slightly yellow), and has had an elevated protein content. Surgery with sacral laminectomy and surgery by the transabdominal approach are the treatment options for this malformation. We report a case of a 16-year-old female patient having a large anterior sacral meningocele. She underwent surgical treatment by the abdominal approach, and the meningocele sac was excised. We presented the clinical and radiological features of our patient and discussed them with reference to the literature.     

Open thoracic meningocele associated with amniotic band syndrome.

We present a case of an infant born with an open thoracic meningocele secondary to an amniotic band. Although there have been several case reports of encephalocele, anencephaly, closed meningocele and a case of tethered cord associated with amniotic band syndrome (ABS), there has yet to be a report of an open meningocele associated with ABS. The patient remained neurologically intact after the repair of his meningocele. His postoperative course was complicated by meningitis with subsequent hydrocephalus necessitating ventriculoperitoneal shunt placement.     

Giant true dorsal thoracic meningocele in a school-age child. Case report

A meningocele is a common form of spinal dysraphic lesions, but it is extremely uncommon in children in the upper thoracic region. The authors describe a rare case in which they found a giant true dorsal meningocele in the upper thoracic region in a symptomatic child, which, to their knowledge, is the first such reported case. A school-age child, who harbored a giant dorsal mass, complained of restriction of function. He underwent successful surgery in which the meningocele sac was totally removed.     

Occipital Cranium Bifidum

This paper describes a follow-up of 74 consecutive cases of occipital cranium bifidum born and treated between 1948 and 1965, and the surgical technique used in their repair.When no hydrocephalus developed, 86% of the cases of cranial meningocele, but only 40% of those of encephalocele, showed normal mental development.Even when hydrocephalus complicating cranium bifidum was controlled surgically, many of the children were mentally and some also physically handicapped. Hydrocephalus was more frequent when the sac had contained brain tissue than in cases of meningocele.There were certain cases of massive posterior protrusion of brain tissue combined with an abnormally small cranial cavity in which reduction of the cerebral hernia was impossible: they showed no sign of intelligence for so long as they survived. In such circumstances operation is contraindicated.Associated development anomalies were frequently encountered, the majority of these involving the neuraxis.     

Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait

Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period due to conotruncal heart defects (transposition of the great vessels and truncus arteriosus type I, respectively). An in utero diagnosis of open neural tube defect was made on the third sibling; persistent slightly elevated alpha-fetoprotein levels in amniotic fluid and increased number of rapidly adhering cells in short term amniotic cell culture were found. The unique combination of sacral meningocele and conotruncal malformations in this sibship suggests a new autosomal recessive condition. It also emphasizes the heterogeneity of both the open neural tube defects and congenital heart defects. Awareness of this variant is necessary in regard to the 25% recurrence risk instead of the 3% to 5% recurrence risk given for both congenital heart defects and open neural tube defects as isolated anomalies. The difficult prenatal diagnosis for the small neural tube defect should be appreciated.     

Sacrum abnormalities and neural tube closure defect: different manifestations of a same genetic disease?]

The authors report the case of a full-term female infant exhibiting an anterior meningocele, combined with a hemi-sacrum and an anal dysfunction. Both her father and brother had the same although less pronounced abnormalities. The father's sister was anencephalic. This case, together with previously published data, suggests that sacrum malformations and neural tube defects may derive from a unique dominant autosomal gene with variable expressivity.     

兔胎仔椎板切除术后局部的病理变化

目的：研究兔胎椎板切除术后脊髓和脊神经的局部病理改变。方法：选用胎龄24－25d的兔仔24只子宫内切除第5－7腰椎椎板。妊娠足月29－30d,剖腹观察存活的实验胎仔20只和对照组胎仔16只。观察局部改变,用光镜和电镜观察脊髓和神经节细胞的病理变化。结果：实验兔胎仔椎板缺损处有不同程度的脊膜膨出,神经与脊膜粘连。尼氏小体和线粒体,内质网肿胀和细胞膜破裂等病理损害。结论：本实验提示胎儿期椎板缺损也可发生脊膜膨出、神经粘连和神经细胞的病理损害。这些可能是脊髓脊膜膨出手术治疗效果不佳的病理基础。     

Congenital arachnoid cyst mimicking meningocele

The subject of this report is a rare case of a 5-year-old girl who developed an arachnoid cyst with a bony and dural defect in the parietal convexity. She had no history of head trauma or infection. Surgical exploration revealed the bulging lesion to consist of cerebrospinal fluid-containing spongy subcutaneous tissue and to extend into the bony and dural defect. The arachnoid cyst cavity was found beneath the subcutaneous lesion and was not connected to the adjacent subarachnoid space. Histologically, the subcutaneous tissue contained a complex of sinusoidal channels formed by an abundance of migrating arachnoidal cells, thus mimicking meningocele.     

A patient with facial abnormality,imperforate anus,tetrapolyhypodactyly and meningocele: a variable manifestation of the polyoligodactyly/imperforate anus/vertebral anomalies syndrome

We present a case of an 80-day-old boy with major anomalies consistent with polyoligodactyly/imperforate anus/vertebral anomalies (PIV) syndrome. In addition, he had facial abnormality, tetrapolyhypodactyly, and sacral meningocele. Polydactyly was of postaxial and central types, and all the distal phalanges were absent. The association of such anomalies enabled pinpointing of the development of this complex anomaly from the 4th to the 6th weeks of the embryonic phase. This condition is extremely rare, and the estimated incidence is 3 in one billion.     

Results of selective treatment of spina bifida cystica.

The results of selective treatment in 120 infants with open spina bifida, admitted between May 1971 and December 1976, were prospectively studied. Seventy-one infants had adverse criteria at birth and were not treated. They all died, more than 90% of them within 6 months of birth. Seven had meningocele. All were treated and survived without handicap. Forty-two infants with myelomeningocele were actively treated. Thirty-six survive at follow-up after 3 to 9 years. The quality of survival is much better than when selection was not used but 8 children have moderate or severe handicaps. The parents were fully informed and consulted at every decision-making step; they fully supported the principle of selection and the action taken on behalf of their own child.     

Survival and handicap of infants with spina bifida

A follow-up study was carried out on 213 infants born with spina bifida cystica (including encephalocele and occipital meningocele) from 1965 to 1972 to women resident in Oxfordshire and the western part of Berkshire. The 5-year survival rate was 36% (39/107) for those with open lesions, 60% (30/50) for those with closed ones, and 18% (10/56) for those with lesions which could not be classified (not known) but which were probably nearly all open. The extent of handicap among these survivors was assessed by means of criteria described by Lorber; among those with open lesions (including 'not known') 84% (41/49) were severely handicapped, 10% (4/49) were moderately handicapped, and only 6% (3/49) had no handicap; among those with closed lesions, 37% (11/30) were severely handicapped, 33% (10/30) were moderately handicapped, and the remaining 30% (9/30) were not handicapped. Closed head lesions (encephalocele or occipital meningocele) were more often associated with severe handicap (6/8; 75%) than were closed spinal lesions (5/22; 23%). The children with open lesions who survived for at least 5 years spent, on average, at least 6 months in hospital during the first 5 years of their life and had, on average, at least 6 major surgical operations. In comparison, those with closed lesions spent one-third less time in hospital, and had fewer than half as many operations. During the period of the study a selective treatment policy was adopted typical of that commonly practised now, and all the infants were born before antenatal screening had been introduced. Our results therefore may be helpful in assessing the benefits to be expected from antenatal screening for open spina bifida.     

小儿脊髓栓系综合征早期诊断与显微手术治疗

目的 探讨分析小儿脊髓栓系综合征(TCS)早期诊断与早期手术的价值。方法 对36例患儿的病史、临床症状、X线片、MRI资料、手术病理所见、随诊结果等进行回顾性分析。结果 1)原发性者均有腰骶部包块或皮肤凹陷和毛发，继发性者均有腰骶脊膜膨出或腰骶部包块手术史；2)MRI表现与手术病理所见一致；3)早期正确手术治疗者治疗效果较佳。结论 MRI检查是早期诊断首选方法。一经诊断，应及时行显微手术治疗。     

Prenatal diagnosis of diastematomyelia

Fetal diastematomyelia, a malformation due to a longitudinal split of the cord, was diagnosed during the third trimester. Diagnosis was based on the visualization of a sagittal bony spur in the thoracolumbar spinal canal, associated with enlargement of the canal, hemivertebrae and spina bifida without a meningocele.     

The range of neural tube defects in southern India.

During a prospective study of 3500 consecutive births from November 1985 to January 1987 at three hospitals, 40 babies were found to have neural tube defects, an extremely high incidence (11.4/1000 births). The defects comprised anencephaly (n = 18), meningomyelocele (n = 11), Arnold-Chiari deformity (n = 3), encephalocele (n = 3), iniencephaly (n = 2), and one each of occipital meningocele, spina bifida occulta, and anencephaly with rachischisis. There were significant differences in incidence between those with consanguineous and nonconsanguineous parents and those whose mothers had previously given birth to malformed infants or who had had miscarriages, and those who had not. Significantly more defects were found among stillborn and low birthweight babies, among girls, and among those whose mothers were aged between 20 and 30 years. Just over a third (14) were breech presentations, and hydramnios was present in 16 (40%).     

The split notochord syndrome: alpha and omega

Two cases of the split notochord syndrome are described. Each patient presented with different clinical features that can be attributed to similar embryological defects. One infant presented with a covered lumbosacral meningocele, caudal to which lay isolated, exposed small-bowel mucosa. This is the second such case described in the literature. The second child presented with respiratory difficulties and was found to have a long thoraco-abdominal bowel duplication. Each child had surgical treatment of the abnormalities and both remain well with no neurological deficits at 6 and 3 years, respectively. The abnormalities are explained as consequences of a division of the notochord resulting in abnormal endo-ectodermal adhesion. Surgery is advocated for excision of an unacceptable skin lesion, spinal dysraphism, and because of the risks of haemorrhage and neoplasm. Offprint requests to: R. J. Fitzgerald     

Neural tube defect in a 4000-year-old Egyptian infant mummy: A case of meningocele from the museum of anthropology and ethnography of Turin (Italy)

This paper reports a paleopathological study of a severe neural tube defect in an ancient mummy, more specifically, a meningocele in an Egyptian infant from the XI dynasty (2100–1955 B.C.). This is one of the most ancient cases of meningocele in mummified human remains described in paleopathological literature.Prehistoric and early historic examples of severe congenital defects of the vertebral column and neural tube are rare, because of the precarious preservation conditions of ancient human remains. Further, since the majority are only the skeletal remains, paleopathological and paleoepidemiological analysis based on the observation of bones is even more difficult. Hence, it is not easy to investigate this disease in the past in all its complexities and true diffusion.The case presented here is peculiar, since it concerns a mummy with almost all soft tissues preserved, thus allowing us to describe the defect in an infant.Only targeted, minimally invasive examinations were performed. An anthropological investigation with helical CT scan and histological analysis was used to diagnose the defect and identify post-mortem transformation processes.The analyses confirmed the diagnosis of meningocele in an approximately six-month-old infant.     

Thoraco-abdominal enteric duplication with meningocele,skeletal anomalies and dextrocardia

We describe an infant with an enteric thoracoabdominal duplication arising in the proximal jejunum and associated with a dorsal meningocele, dextrocardia, agenesis of ribs and hypoplasia of the left arm. Diagnosis was reached post-operatively and the infant died of cytomegalovirus pneumonitis. Results of the postmortem examination are presented. Awareness of this rare malformation is require in norder to reach a timely diagnosis and to plan a suitable operative approach.     

The anterior sacral meningocele — A rare cause of constipation in childhood

Anterior sacral meningocele (ASM) is a congenital lesion that arises through errors in the embryonic events that follow the closure of the posterior neuropore. We report a 7-month-old boy with an ASM. The clinical presentation and management are discussed. Offprint requests to: L. Siplovich     

Perineal lipomas associated with anorectal malformations

Newborns with anorectal malformations may have associated perineal lipomas. These lesions are rare but may make the repair of the anorectal malformation more complex. Knowledge about the functional consequences of these lesions is scanty. The purpose of this study was to review the experience of anorectal malformations with perineal lipomas in two Scandinavian paediatric surgical centres. Six patients with perineal lipomas and anorectal malformation treated in the two centres from 1991 to 2005 were retrospectively reviewed. Bowel function was evaluated in patients more than 4 years old. Three girls and three boys (age 4 months to 14 years) with anorectal malformations and perineal lipoma were included in the study. The boys all had high anorectal malformations with rectourethral or rectovesical fistulas. Two girls had a rectovestibular fistula and one girl had a cloaca. All patients had perineal lipomas, in one associated with an anterior meningocele. The lipomas were excised at time of anorectal reconstruction. One of the patients still has a colostomy, and two colostomies were recently closed. The bowel function was evaluated in three patients. Two patients have an ACE stoma to control constipation and soiling and one is soiling despite regular washouts. In conclusion, perineal lipomas associated with anorectal malformations are rare but may distort sphincter anatomy. Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions.