Nasofrontal encephalocele in a child, associated with a nasal dermal sinus in his mother: familial cranial malformations. Illustrative case.

BACKGROUND: Dermal sinuses and encephaloceles are uncommon central nervous system malformations. The occurrence of these malformations in different members of a family is very rare. OBSERVATIONS: This report documents the unique case of a 10-month-old boy with a frontonasal encephalocele, born to a mother with a nasal dermal sinus. These two specific neural tube defects have not been previously reported as occurring between parent and child. LESSONS: This case demonstrates potential heritable links in central nervous system malformations through the occurrence of a frontonasal encephalocele in a child born to a mother with a dermal sinus. The connection between these two malformations in a heritable manner suggests a potential need for further research into the genetic pathogenesis of such defects to predict them more accurately within families. https://thejns.org/doi/10.3171/CASE23727.

Interfrontal encephalocele: a rare feature of forehead in hydrocephalic myelomeningocele patients. Clinical feature, probable mechanisms, and management.

OBJECTIVE: Myelomeningocele is a complex central nervous system malformation mostly associated with other neural and extraneural anomalies. A rare special feature of the forehead and skull was observed in myelomeningocele. Here, we present several patients with myelomeningocele, severe hydrocephalus, and interfrontal encephalocele accompanied by metopic suture widening and abnormally shaped frontal bones. METHODS: Five children with this feature were enrolled in this series. The age, sex, location of myelomeningocele sac, neurological deficits, hydrocephalus and history of shunt surgery, and follow-up period were evaluated. RESULTS: Patients were aged from 1 to 12 months (mean, 6 months). All patients were male. Most sacs were located in lumbar and lumbosacral areas. Neurological deficits varying from only sphincter problem to paraplegia were found in all patients. Hydrocephalus was found in all children that needed a shunt procedure. Asymptomatic Chiari malformation, interfrontal encephalocele, and corpus callosum agenesis were evident in five, five, and three patients, respectively. CONCLUSION: Anterior fontanel anomalies known as interfrontal encephalocele associated with myelomeningocele have been reported before. The patients have an open metopic suture extending widely to the nasal radix producing hypertelorism accompanied by interfrontal herniation of frontal lobes. The associated hydrocephalus exaggerates the anomaly. Treatment of accompanying hydrocephalus is advised to decrease the severity of frontal lobe herniation. Some patients may need frontal bone reconstruction surgery to provide cosmetic correction at the place of the midline frontal bone defect.

Infections of the spinal subdural space in children: a series of 11 contemporary cases and review of all published reports. A multinational collaborative effort.

INTRODUCTION: Positioned anatomically between the spinal epidural space and the intramedullary compartment, the spinal subdural space remains the least common area of localized infection in the central nervous system. Infectious processes of the subdural spinal space include subdural spinal empyema, subdural spinal abscess, infected spinal subdural cyst, and infectious spinal subdural cyst. To date, there has been no systematic review of these entities in children, with the cumulative knowledge of the pathophysiologic, microbiologic, and demographic characteristics of these infections relegated solely to few small series and case reports. METHODS: A series of 11 recent cases culled from the collaboration of international authors are presented. In addition, an exhaustive MEDLINE search and manual review of the international literature was performed, identifying a total of 73 cases of spinal subdural infections in patients under the age of 21. Data of interest include the age, sex, signs, and symptoms at presentation, spinal location of infection, presence of spinal dysraphism, and other comorbidities, offending organism, treatment, outcome, and follow-up. RESULTS: Patients ages ranged from 4 weeks to 20 years (mean, 6.5 years). Males outnumbered females by a ratio of 2:1. Over half (53 %) of spinal subdural infections in children were associated with spinal dysraphism or other congenital abnormalities of the spine. The commonest organism to infect the spinal subdural space in children is mycobacterium tuberculosis and the thoracic spinal region was most commonly infected. CONCLUSIONS: The disease is usually treated surgically, although a more expectant approach consisting of antibiotics and observation has also been proposed.

Risk factors associated with lipomyelomeningocele: a case-control study.

BACKGROUND: In general, it seems that both genetic and environmental factors play important roles in the induction of neural tube defects. Lipomyelomeningocele (LipoMMC) is a rather common type of closed neural tube defect, but only limited studies have investigated the potential risk factors of this anomaly. Therefore, the purpose of this case-control study was to investigate the risk factors involved in LipoMMC formation. MATERIAL AND METHOD: Various risk factors were evaluated in 35 children between 1 month and 10 years of age with LipoMMC in a hospital-based case-control study. The 2 control arms consisted of 35 children with myelomeningocele (MMC group) and 35 children with congenital anomalies other than central nervous system problems (control group). All groups were matched for age and visited the same hospital. A structured questionnaire was used for the collection of all data, including the mothers' weight and height during pregnancy, education, reproductive history, previous abortions, and socioeconomic status, as well as the parents' consanguinity and family history of the same anomalies. RESULTS: Univariate analysis of the children with LipoMMC compared to the control group showed that the use of periconceptional folic acid supplementation was significantly lower in the MMC and LipoMMC groups compared to the control group. In addition, comparison of the MMC and control groups revealed statistically significant differences regarding the use of folic acid and maternal obesity. In multivariate analysis, use of folic acid in the periconceptional period and during the first trimester was an independent risk factor for LipoMMC and MMC. Furthermore, maternal obesity was a significantly positive risk factor for MMC. CONCLUSION: The probable risk factors for LipoMMC were investigated in this case-control study. Consumption of folic acid in the periconceptional period and during the first trimester is an independent protective factor against LipoMMC. It seems that larger studies are needed to examine other possible risk factors.

Cranial dermal sinus: presentation, complications and management.

OBJECTIVE: Cranial dermal sinus is a very rare anomaly mostly found in the midline occipital area, presenting with diverse clinical features from asymptomatic dermal sinus to symptomatic situations including meningitis, dermoid tumor or abscess. METHODS: Medical records of 18 patients with 19 cranial dermal sinuses operated at the Children's Hospital Medical Center in Tehran from 1999 to 2011 were retrospectively studied. Their presentations, accompanying anomalies, radiological and surgical findings were evaluated. RESULTS: Patients were aged 1 month to 6 years and were followed for 2-12 years. Most sinuses were located in the midline occipital region. Infection was the most common reason for referral (50%) followed by skin dimple (33.3%). Creamy white discharge was found in 50% of patients. Posterior fossa abscess, hydrocephalus and meningitis were observed in 38.9, 38.9 and 22.2% of children, respectively. All sinus tracts with associated dermoid tumors or abscesses were removed en bloc to decrease the risk of recurrence. CONCLUSION: The sinus tracts are a portal of entry for pathogens which result in serious complications of meningitis or abscess. In this series, 67% of children presented with serious symptoms; therefore, we recommend prophylactic surgery in all cranial dermal sinuses. The exact time of surgery is not obvious as the natural course of the disease is unknown. If any symptom is observed surgery should be done as soon as possible. For asymptomatic sinuses identified by the pediatrician during a regular visit prophylactic surgery is recommended as soon as the child can tolerate operation.

Seizure risk factors in shunted hydrocephalic patients.

OBJECTIVE: There are controversies about seizure risk factors in shunted hydrocephalic patients which can be due to having merged two different types of seizure (preshunt and postshunt seizures) in previous studies. Also, it is not known whether a considerable change in ventricular size after shunting can be a risk factor of postshunt seizures. METHODS: 150 hydrocephalic patients who underwent shunting from 2006 to 2011 in the Children's Hospital Medical Center in Tehran, Iran, were visited at least 1 year after shunting to assess risk factors of preshunt and postshunt seizures. Ventricular size was assessed by using a radiologic index of bifrontal ratio (BFR). RESULTS: Preshunt seizures were higher in patients with postinfectious hydrocephalus and intraventricular hemorrhage. Early shunting, history of shunt complications and shunt infection, and a high number of shunt revisions were significant risk factors for developing postshunt seizures. The change in BFR after shunting was not a significant risk factor of postshunt seizures. CONCLUSION: The difference between risk factors of preshunt seizures and postshunt seizures shows that they are two different types of seizures with different natures. Preshunt seizures are hard to prevent as they are related to the underlying disease of the brain or the etiology of hydrocephalus. However, postshunt seizures are related to the shunt and might be decreased by preventing shunt complications.

Risk factors associated with craniosynostosis: a case control study.

BACKGROUND: Craniosynostosis is a relatively common congenital abnormality. The underlying etiology and most probable risk factors of nonsyndromic craniosynostosis are unknown. We conducted a study to identify the risk factors for craniosynostosis. MATERIALS AND METHODS: In this case-control project, 70 children with craniosynostosis (syndromic or nonsyndromic) hospitalized at the Children's Hospital Medical Center from September 2010 to 2011 were studied for the potential risk factors. At the same time, 70 age- and sex-matched children hospitalized with other congenital anomalies were reviewed. Information from case and control groups was obtained via personal interviews with parents of patients and a prepared checklist was filled out for each child. RESULTS: The mean (±SE) age at admission time in the case-control group was 13 ± 1.95 (1.5-96) months, and almost half of them were boys (n = 37 or 53%). The most frequent sutures involved in craniosynostosis were coronal (n = 30 or 42.9%) and then metopic sutures (n = 16 or 22.9%), multiple (n = 12 or 17.1%), sagittal (n = 11 or 15.7%) and lambdoid (n = 1 or 1.4%). In the case group, maternal diabetes mellitus and thyroid disease were found in 8 (11.6%) and 6 (8.6%) patients, respectively. The most frequent medication used by mothers (n = 66 or 94%) in the case group during pregnancy were vitamins (including iron supplements, omega 3, folic acid and multivitamins). CONCLUSION: A positive family history of craniosynostosis [odds ratio (OR) 19.01 and 95% confidence interval (CI) 2.24-160.7] and using clomiphene citrate for infertility (OR 12.71 and 95% CI 1.42-113.6) were the strongest independent risk factors for craniosynostosis. More comprehensive studies with a larger sample size are required to confirm the role of environmental factors in order to decrease the occurrence of craniosynostosis.

Incidence of hydrocephalus and the need to ventriculoperitoneal shunting in premature infants with intraventricular hemorrhage: risk factors and outcome.

OBJECTIVE: To investigate the associated risk factors for ventriculoperitoneal (VP) shunting in infantile hydrocephalus following intraventricular hemorrhage (IVH) in premature infants. METHODS: A historical cohort study was conducted, consisting of 97 premature infants in whom the diagnosis of IVH was previously made by cranial ultrasound and were referred to pediatric neurosurgery clinic and/or neonatal intensive care unit of Children's Hospital Medical Center in Tehran, Iran, from April 2004 to March 2009. Among the patients, those who were followed up for at least 6 months after the diagnosis of IVH were included in the study, and data regarding signs and symptoms of increased intracranial pressure, cranial ultrasound, non-surgical treatment (CSF drainage and/or acetazolamide), and shunt requirement were extracted. Patients who required VP shunting were followed up for at least 6 months thereafter considering shunt infection. RESULTS: All the patients were followed up for at least 1 year, except for three who died at the ages of 6 (two of them) and 7 months. Thirty five percent (35%) of patients required VP shunting, in all of whom IVH was of grade 3 or 4. The need for VP shunting in these patients was predicted only by the severity of IVH. Non-surgical treatments for IVH had no statistically significant effect on shunt requirement. Moreover, 11 of 31 patients with shunt developed shunt infection, which was significantly associated with repeated cerebrospinal fluid (CSF) drainage. CONCLUSION: It is suggested that children with IVH, especially of higher grades, should be followed up meticulously (by signs, symptoms, and periodic cranial ultrasounds). Non-surgical treatments are considered for patients requiring VP shunting who are not good candidates for immediate surgical intervention. The only predictor for surgical intervention was the grade of IVH.

Huge hydrocephalus: definition, management, and complications.

OBJECTIVE: Lack of comprehensive knowledge and numerous socioeconomic problems may make the parents leave hydrocephalic children untreated, leading to progressive hydrocephalus and eventual unordinary big head. Management of huge hydrocephalus (HH) differs from common hydrocephalus. We present our experience in the management of these children. METHODS: HH is defined as head circumference larger than the height of the infant. Nine infants with HH have been shunted in Children's Hospital Medical Center and followed up for 0.5 to 7 years. RESULTS: The most common cause of hydrocephalus was aqueductal stenosis. The mean age of patients during shunting was 3 months. The head circumference ranged from 56 to 94 cm with the average of 67 cm. Cognitive statuses were appropriate based on their age in five patients. Motor development was normal only in one patient. Complications were found in most cases which included subdural effusion (six patients), shunt infection (four patients), skin injury (three patients), proximal catheter coming out of ventricle to the subdural space (two patients), and shunt exposure (one patient). Three patients died due to shunt infection and sepsis. CONCLUSION: Numerous complications may occur in patients with HH after shunt operation such as subdural effusion, ventricular collapse, electrolyte disturbance, skull deformity, scalp injury, and shunt infection. Mental and motor disabilities are very common in patients with HH. Many of these complications can be related to overdrainage; therefore, drainage control using programmable shunts is advisable.

Coiling and migration of peritoneal catheter into the breast: a very rare complication of ventriculoperitoneal shunt.

Upward migration of distal catheter of a ventriculoperitoneal shunt with coiling is very rare. Pseudocyst and galactorrhea are known breast-related complications. Here, we report a 13-year-old girl, known case of myelomeningocele and shunted hydrocephalus, who presented with right breast pseudocyst due to distal tube migration and coiling of the catheter. Plain radiography was not diagnostic because of severe levoscoliosis, but chest computed tomography scan was confirmatory of shunt coiling lateral to the breast. The possible mechanisms causing this uncommon complication are described.

Dermal sinus tract of the spine.

OBJECTIVE: Spinal dermal sinus tract (DST) is a rare entity which usually comes to clinical attention by cutaneous abnormalities, neurologic deficit, and/or infection. We performed this study to assess presentation patterns, associated anomalies, radiologic, urologic, and surgical findings in children afflicted with spinal DST. METHODS: Medical records of 35 children treated for spinal DST in Children's Medical Center from January 2001 to December 2008 were reviewed. RESULTS: Patients' age ranged from 3 days to 8.44 years. Dermal sinuses were located most frequently in the lumbar and lumbosacral regions. The most common causes for referral were abnormal skin findings (57.1%) and infection (31.4%). Notably eight patients presented with meningitis. The overall rate of neurologic abnormalities was 37.1%, four of whom presented acutely with rapidly progressive paraplegia and meningitis. The most common magnetic resonance imaging finding was tethered cord (63%). At least one urological evaluation was performed in 30 patients, which revealed abnormal results in 77% of them. All patients underwent complete resection of the tract and repair of associated abnormalities. Most tracts terminated within the intradural space. Fifteen patients (42.8%) had inclusion tumor with the dermoid tumor being the most common. None of the patients demonstrated neurological deterioration postoperatively. CONCLUSION: Dermal sinus tract is an innocuous-appearing spinal dysraphism that may contribute to devastating morbidities if not timely addressed. In order to prevent complications, timely surgical intervention including complete resection of sinus tract with intradural exploration and correction of associated abnormalities is of utmost importance.

Iniencephaly: clinical, radiological and surgical findings.

The authors report a case of iniencephaly in a 6-year-old boy with a huge occipital bone defect and encephalocele, extensive spina bifida of the cervical vertebrae and fixed retroflexion of the head due to Sprengel's deformity. He presented with some cerebellar and cranial nerve symptoms and new episodes of neck pain and drop attacks. Brain imaging confirmed progressive deformity of the brain stem, cerebellar herniation into the encephalocele sac and ventriculomegaly. Surgical repair of the encephalocele was performed with preservation of all herniated cerebellar tissue and the release of thick arachnoid adhesions to make more space to return the herniated neural tissue from the sac to the cranium. The patient was found to have progressive facial palsy and intracranial hypertension 3 days after surgery, which improved with ventriculoperitoneal shunting. Iniencephaly is generally a fatal anomaly, and only 7 such patients have been reported to have survived. Because of the fatality of this anomaly, prenatal diagnosis of iniencephly and pregnancy termination are important. The patient presented herein is only the second patient with iniencephaly and encephalocele to be operated on. The severity of associated systemic and cranial abnormalities is fundamental with regard to survival. Essential points for surgery are preparing enough space to save herniated functional neural tissues, management of associated hydrocephalus and brain stem rotation/compression due to decreased postoperative space. In the surviving child, early correction of Sprengel's deformity would provide a better aesthetic position of the neck with preservation of brachial plexus integrity.

Intracranial complications of pediatric rhinosinusitis: Identifying risk factors and interventions affecting length of hospitalization.

OBJECTIVE: To identify risk factors and interventions affecting length of hospitalization (LOH) and clinical outcome in children with intracranial complications of rhinosinusitis. METHODS: Retrospective chart review of 12 children hospitalized at 2 academic medical centers for intracranial complications of rhinosinusitis over the past 5 years. RESULTS: 12 patients were identified with an average age at presentation of 13 years old. 92% were male and 75% were African American. The most common presenting symptoms were fever and headache. Localizing neurological symptoms including hemiparesis and aphasia, in addition to seizures occurred in 33% of patients and increased LOH significantly (33 versus 15 days, p = 0.03). Epidural (EA) and subdural abscesses (SA) were the most common intracranial complications. 58% of patients were initially treated with a combination of open neurosurgical (ON) intervention and endoscopic sinus surgery (ESS) and LOH was significantly shorter for these patients compared to those treated otherwise (14 versus 31 days, p = 0.02). Streptococcus species were the most common group of bacteria identified in 75% of cases, with S. anginosus accounting for 42% of cases. The overall average LOH was 21 days with 92% of patients having complete resolution of symptoms by time of discharge. CONCLUSIONS: Treatment of intracranial complications of acute rhinosinusitis can have favorable outcomes after appropriate surgical management. Localizing neurologic symptoms and seizures portend longer hospital stay and recovery time. Shorter hospital stay was seen in those undergoing early combined ON and ESS interventions.

Intermediate grade meningeal melanocytoma of cervical spine.

BACKGROUND: Meningeal melanocytoma is a rare, benign melanotic tumor of the leptomeninges, which occurs anywhere in the cranial or spinal regions but most commonly in supratentorial and thoracic spine regions. The literature on this entity consists of case reports; therefore, there is no agreement on the most effective therapy of this tumor, although total excision seems to be the best therapeutic option. CASE HISTORY: We report a 17-year-old girl with intermediate grade meningeal melanocytoma involving the C6 nerve root with spinal cord compression resulted in progressive tetraparesis. Clinical and radiological examinations suggested the possibility of an intradural extramedullary solid mass. The tumor was removed subtotally through cervical laminotomy followed by rapid improvement of most neurological deficits. This tumor was unusual because of its very hyperintense homogenous signal on T1-weighted images, invasion of the arachnoid membrane, and extension into the neural foramina. Black dots on the surface of the cord were thought to represent an organized blood clot until the frozen section suggested a melanocytic tumor. DISCUSSION: We discuss the distinction of meningeal melanocytoma from other melanocytic tumors of the leptomeninges. CONCLUSION: Melanocytic tumors should be considered in the differential diagnosis when a hyperintense lesion of the leptomeninges is identified on T1-weighted images or a very dark mass similar to charcoal or organized hematoma is found in the surgical field. The best management is complete tumor resection, but radiotherapy is reserved in cases of subtotal resection and multiple lesions. Locally aggressive nature of tumor and possibility of recurrence warrant regular follow-up.

Cephalocele: report of 55 cases over 8 years.

OBJECTIVE: Cephalocele is a central nervous system (CNS) birth defect. Various CNS and extra-CNS anomalies, as well as prognostic factors have been reported with cephalocele. The aim of this study was to discuss prognostic factors and current possible theories explaining associated anomalies seen in a series of 55 patients with cephalocele. METHODS: A retrospective study was performed using the records of 55 children with cephalocele at the Children's Hospital Medical Center in Tehran, Iran, from October 2000 through October 2008. Patients' sex, age at the operation time, characteristics of the lesion including location, size, cerebrospinal fluid leakage, radiological assessments and intraoperative findings (sac contents), intracranial and extracranial associated anomalies, and the last situation of the children were reviewed. CONCLUSION: A genetic role can be proposed while a female predominance is seen in our results as well as in other reports. CNS and extra-CNS anomalies, as well as several genetic syndromes are not explicable as a causal consequence of cephalocele and the probability of a mere coincidence cannot be ruled out; therefore, we propose that the combination of these anomalies is rather a low-frequency association. Ventriculomegaly was the only poor prognostic determinant in our study, which can compel more severe neuroradiologic studies in such patients as a reasonable prognostic evaluation.

Triple lumbar dermal sinuses: unusual presentation of a typically solitary midline lesion.

BACKGROUND: Congenital dermal sinus is a type of closed spinal dysraphism caused by incomplete disjunction. The lesion occurs everywhere along neuraxis predominantly as a solitary midline sinus in the lumbosacral area. CASE HISTORY: The authors report on a 10-month-old girl with triple congenital dermal sinuses associated with dermoid tumors and intradural extension of one of them. DISCUSSION: Triple dermal sinuses of the lumbosacral area in a single patient have never been described previously. Incomplete disjunction is suggested to cause this abnormality thereafter the orifice may be divided to three sinuses and some mesenchymal tissues separated the two proximal sinuses to a paramedian location.

A randomized trial of ceftriaxone versus trimethoprim-sulfamethoxazole to prevent ventriculoperitoneal shunt infection.

BACKGROUND AND PURPOSE: Shunt infection represents a particularly morbid condition, which can also result in mortality. In order to decrease the high morbidity and mortality rates, prevention is an essential step. The purpose of this study was to compare the prophylactic use of ceftriaxone and trimethoprim-sulfamethoxazole (SXT) for the prevention of ventriculoperitoneal (VP) shunt infection. METHODS: In this prospective, single-institution, randomized clinical trial, 107 children with hydrocephalus and an indication for shunting were randomly assigned to prophylaxis with ceftriaxone (n = 50) or SXT (55), each administered as a single dose during anesthesia and two divided doses postoperatively. Patients were followed up for at least one year. RESULTS: The mean age of patients was 15 months, and 85% were aged 6 months or younger. During the first postoperative year, meningitis occurred in 13.5% of patients receiving ceftriaxone and 14.5% of the SXT group, with no statistically significant difference between the groups. Younger age, presence of cerebrospinal fluid leakage and aqueductal stenosis as a cause of hydrocephalus showed significant correlation with meningitis occurrence on univariate analysis. However, only the latter 2 factors were associated with meningitis on multivariate analysis. The risk of shunt infection did not correlate with the gender of the patient, time of VP shunt surgery, or duration of hospitalization for shunting. CONCLUSION: Ceftriaxone and SXT showed similar efficacy in preventing shunt infection. Cerebrospinal fluid leakage before or after VP shunt placement and aqueductal stenosis were independent risk factors for meningitis after VP shunt.

Setting sun eye in normal healthy infants.

BACKGROUND: The setting sun eye is a common sign associated with severe disorders signifying intracranial hypertension. Rarely it can be observed in a healthy infant. We conducted this study to evaluate and follow setting sun eye in normal infants without any obvious intracranial diseases. METHODS: A cross-sectional study was conducted in the Children's Hospital Medical Center in Tehran from June 2001 to 2006. The study included 15 healthy infants who were referred to the neurosurgery clinic for setting sun eye. All were evaluated with brain imaging, and laboratory tests including at least thyroid function tests, and serum calcium and phosphorus. The cases were followed by regular outpatient visits until the age of 2 years. RESULTS: They were 3-8 months old at the time of referring to the outpatient clinic. Setting sun eye was observed by the mother in all cases and confirmed during their visit to the clinic. All had normal brain imaging and normal laboratory tests (thyroid function and electrolytes). Setting sun eye disappeared gradually during the follow-up period with a range of 2-8 months after detection by the mother. CONCLUSION: Despite the fact that setting sun eye is a grave sign, most commonly accompanied by other neurological signs and symptoms suggesting serious diseases, it might be observed as a sole finding in a totally normal infant with inconclusive brain imaging and laboratory tests. We found that this type of setting sun eye has a benign course and will disappear without any intervention several months after its detection (commonly before the age of 2 years without any intervention).

Nonneural congenital abnormalities concurring with myelomeningocele: report of 17 cases and review of current theories.

OBJECTIVE: Meningomyelocele (MMC) is a common central nervous system birth defect. Various congenital and acquired abnormalities have been reported with MMC, some of which are secondary to the pathophysiology and some are morbidities of the underlying disease. The aim of this study was to discuss current possible theories explaining diverse anomalies/abnormalities seen in a series of 390 patients with MMC. METHODS: A retrospective study was performed using the records of 390 patients with MMC at Children's Hospital Medical Center in Tehran, Iran, from January 2001 to January 2007. A series of 17 cases of MMC with attributed organ anomalies, not explained by a causal effect of the underlying disorder, were compiled. There were 3 cardiac anomalies including ventricular septal defect, pulmonary artery atresia and tetralogy of Fallot, 4 musculoskeletal malformations, consisting of missing rib, polydactylia and complex distal limb anomaly, 4 urological anomalies such as bladder exstrophy, horseshoe kidney and dysplastic kidneys, 2 occipital encephaloceles, 2 congenital adrenal hyperplasia patients with ambiguous genitalia, 1 omphalocele, 1 albinism and 1 Klippel-Feil syndrome. A review of the literature and discussion explaining each of these observations, have been performed and some possible theories have been proposed. CONCLUSIONS: Although various organ anomalies with different embryological origin had been observed and reported with MMC, it is difficult to explain their development using one of the current theories of MMC formation. It could be attributed to a possible genetic defect or merely an incidental finding. A teratological insult during the embryogenic phase would be an alternative assumption.

The cerebral arterial circle (circulus arteriosus cerebri): an anatomical study in fetus and infant samples.

BACKGROUND: Many studies have investigated the variations in the anatomy of each segment of the cerebral arterial circle while a few have addressed the variations of the cerebral arterial circle as a whole. METHODS: Thirty brains of recently deceased Iranian infants and fetuses were dissected. The dissection process was filmed and digitized so as to be readily available for further studies. The variations of the circle as a whole and segmental variations were evaluated. RESULTS: Variants with uni- and bilateral hypoplasia of posterior communicating arteries (PcoAs) were the most common in our study, similar to previous works. No aplasia of the precommunicating part of the anterior cerebral artery (A1), the precommunicating part of the posterior cerebral artery (P1) and anterior communicating artery was seen. Hypoplasia of the right and left PcoA was observed in 8 and 5 cases, respectively. Aplasia of the right PcoA was found in 16.6% and of the left PcoA in 3.3%. CONCLUSION: In this study, we confirmed the previously described finding that the symmetrical, circular configuration of the circulus arteriosus cerebri is present in only about 42.1%. The main differences between the fetal and adult disposition are the diameter of the PcoA and the circular part of the posterior cerebral artery. According to previous studies, the fetal brain older than 4 months has anatomical characteristics very similar to the adult's circle; our finding was mostly similar to adult samples as most samples were from infants, not fetuses.