Types Of Congenital Malformations Research Articles

Sinus dermique : une urgence neurochirurgicale

Spinal dysraphisms include various types of congenital malformations. About 10% are dermal sinuses, i.e., a connection between the skin elements and intradural space through an open tract. The major complication of this malformation is a central nervous system infection that occurs most frequently before the age of 5 years. We report the case of a lumbosacral skin defect initially described as a coccygeal pit, which happened to be a dermal sinus with a tethered cord after ultrasound imaging in a newborn infant. No indication for surgery was recognized. Later, the infant experienced cerebral empyema and spinal cord edema when he was 5 months old, while a second infection, with a medullar abscess, occurred 7 months later. Both infections began with high fever and were complicated by neurologic deficits. An emergency surgery was performed during the second myelitis. The operative findings confirmed a dermal sinus and a tethered cord. Moreover, they found a dermoid cyst next to the tract. After 2 years of recovery, the child has neurologic deficits including lower limb paraplegia with neurological bladder and bowel. This observation recalls the importance of the differential diagnosis between a coccygeal pit and a dermal sinus, the latter being associated with a dermoid cyst in 50% of cases. Serious neurologic consequences due to the possible infectious complications can occur when a dermal sinus is neglected. A preventive operative excision of both the dermal sinus and a possible cyst is a surgical emergency for spinal dysraphism.

Congenital Malformations in Newborns of Mothers Affected by Epilepsy

Aim: To examine the effects of anti-epileptic drugs (AED) used during pregnancy on the frequency and the type of congenital malformations in newborns. Methods: The study included 96 newborns, born by mothers affected by epilepsy (before the pregnancy). The control group consisted of 96 healthy newborns delivered by mothers. Results: Almost all of the pregnant women used AED (98%) during the pregnancy. Monotherapy (Phenobarbiton) was used in 80% of women and 18% was used polytherapy, respectively. The pregnancy ended vaginal delivery in 54.4% of women, and in 45.5% of women, it is ended by cesarean section. Congenital malformations (palatoshisis and ventricular septal defect–VSD) were observed after births in 3 of newborn by means of detailed clinical and ehosonographic survey. Both pregnant women were on polytherapy (Phenobarbiton and Karbamazepin). Congenital malformations were not observed in the control group of newborns delivered by healthy mothers. Conclusion: The use of AED in the form of monotherapy and avoiding of AED that have the teratogenic effect are recommended during the pregnancy. Mothers with epilepsy are free to continue with the breast feeding their newborns.

Association between congenital malformation and neonatal and maternal variables in neonatal units of a Northeast Brazilian city

Congenital malformations occur due to genetic, environmental, and mixed factors or unknown causes. This study aimed to investigate the existence of a relationship between the type of congenital malformation and maternal and neonatal variables. This prospective, quantitative study was conducted in three public neonatal units in Fortaleza, Ceará, Brazil. Data were collected from the medical records of 159 malformed neonates and analyzed using the Chi-square test (χ2), significance level of 5% (p<0.05). The majority of the newborns were male, 85 (53%), 91 (57%) born full-term, and 82 (52%) weighed between 2500g and 3999g. Malformations of the central nervous and musculoskeletal systems exceeded the other categories. Variables such as gender, gestational age, birth weight, drug use, maternal age, family income, education level, and number of children showed statistically significant associations with the categories of malformations (p<0.05). Maternal and neonatal factors have close relationships with the type of malformation, with these data providing support for neonatal nursing care.

Antiepileptic drugs and congenital malformations

In pregnant women with epilepsy the use of antiepileptic drugs may increase the risk of harming the foetus. For the treating neurologist it may be challenging to find a balance between optimal seizure control and the lowest possible drug dosage. The aim of this study was to assess the prevalence and type of congenital malformations in children exposed to antiepileptic drugs during pregnancy. In Norway we have prospectively followed 813 pregnancies in women with epilepsy as part of an international cohort study. The women had three check-ups during the pregnancy, and the children were followed up twice during their first year of life. We found a total of 34 congenital malformations in the children, of which 12 were heart defects, yielding a malformation rate of 4.5%. Six of the malformations (18%) were detected prenatally, 20 (59%) were reported immediately after birth, and eight (24%) were discovered during the child's first year of life. Our study shows that 95.5%.of the women included who used antiepileptic drugs during pregnancy gave birth to a healthy child. This Norwegian cohort is too small to evaluate the teratogenic risk associated with the individual drugs.

Incidence and Pattern of Congenital Malformations in Gorgan-north of Iran

Congenital malformations are emerged as a common cause of fetal death and one of the most important causes of prenatal mortality and morbidity. This study was done to determine the incidence and pattern of congenital malformations in a referral hospital in Gorgan, North of Iran. This cross-sectional study was done on 6204 live birth in Dezyani hospital in Gorgan, North of Iran during a 12-month period from January 1st to December 31st of 2007. Gender, type of congenital malformations according to International Classification of Diseases (ICD-10) and maternal ethnicity were recorded. Data for each newborn was filled in a questionnaire. Data analyzed by using SPSS software version 16 and I�2 test. The overall incidence of congenital malformations among newborns was 17.7 per 1000 live births. The incidence of congenital malformations was 22.4 per 1000 in males (RR = 1.68 Q95%: 1.14-2.48) and 13.06 per 1000 in females. Anomalies of the central nervous system had the highest incidence (7.3 per 1000) followed by congenital heart defects (5.2 per 1000) and musculoskeletal system (3.7 per 1000) births. According to ethnicity the incidence rate of congenital malformations was 16.5,17.2 and 20 per 1000 live births in native Fars, Turkman (RR = 1.04 CI95%:65-1.67) and Sistani (RR = 1.2 CI95%: 0.78-1.85) groups, respectively. This study showed that the incidence rate of congenital malformations is increased from 10.1 -17.7 per 1000 live birth in Northern Iran during an 8 years period.

MR urography: Anatomical and quantitative information on congenital malformations in children

Background and Aim:Magnetic resonance urography (MRU) is considered to be the next step in uroradiology. This technique combines superb anatomical images and functional information in a single test. In this article, we aim to present the topic of MRU in children and how it has been implemented in Northern Greece so far. The purpose of this study is to demonstrate the potential of MRU in clinical practice. We focus both on the anatomical and the quantitative information this technique can offer.Materials and Methods:MRU was applied in 25 children (ages from 3 to 11 years) diagnosed with different types of congenital malformations. T1 and T2 images were obtained for all patients. Dynamic, contrast-enhanced data were processed and signal intensity versus time curves were created for all patients from regions of interest (ROIs) selected around the kidneys in order to yield quantitative information regarding the kidneys function.Results:From the slopes of these curves we were able to evaluate which kidneys were functional and from the corticomedullary cross-over point to determine whether the renal system was obstructed or not.Conclusion:In all 25 cases MRU was sufficient, if not superior to other imaging modalities, to establish a complete diagnosis.

Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes

To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. Multicenter case-control study, in 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). The frequency of CM in NEM treated with anticonvulsants was higher (48.3%) than in NEM of untreated mothers (28.3%), (OR= 2.37 IC95% 1.08-5.40), p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

The incidence of congenital anomalies associated with cleft palate/cleft lip and palate in neonates in the Konya region, Turkey

Additional congenital anomalies have often been found in patients with orofacial clefts. We wanted to find out the incidence and type of congenital malformations that may accompany cleft palate (CP) and cleft lip and palate (CLP) in babies born in the Konya region. A total of 121 newborn babies with CP or CLP were prospectively included in the study, and all were assessed in detail for congenital anomalies. Of 121 babies, 86 (71%) had CLP and 35 (29%) had CP. There was at least one congenital malformation in 80 (66%) of the cases. Additional congenital malformations were seen in 26 (74%) of the 35 with isolated CP, and 54 (63%) in the 86 patients with CLP (p<0.05). The most common congenital malformation was congenital heart disease, followed by head and neck anomalies. The most common congenital heart disease was atrial septal defect. A serious chromosomal anomaly was found in 18/121 patients with CP or CLP (15%). Of the 80 babies in whom congenital malformations were found, 31 (39%) had dysmorphic features. While 21 (68%) of dysmorphic cases had isolated CP, 10 (32%) had CLP (p<0.05). The rates of premature delivery, intrauterine growth retardation, and consanguinity between parents were higher in patients with CP or CLP. The neonatal mortality was 20% (n=24). Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with CP and CLP, and these anomalies significantly increase their morbidity and mortality. All newborn babies with CP and CLP should be screened for additional congenital anomalies, particularly of the cardiovascular system.

Difficult Intubation in Children: Applicability of the Mallampati Index

The concern of facing difficult airways brought the need of developing predictive testing for difficult intubation. Those tests were developed primarily for adult populations. In pediatric patients studies always focus on patients with congenital malformation, polytraumatized, and newborns. The objective of the present study was to determine the applicability of the predictive test used more often in adults, the Mallampati index, in patients 4 to 8 years old, correlating it with the Cormack-Lehane index. One hundred and eight patients 4 to 8 years of age, ASA I, without any type of congenital malformation, genetic syndromes or cognitive deficits were evaluated. The Mallampati index was applied to patients during the pre-anesthetic evaluation. Evaluation of the Cormack-Lehane index was performed after anesthetic induction. A p<0.05 was considered significant. The Mallampati index showed a significant correlation with the Cormack-Lehane index. The sensitivity and specificity of the Mallampati index were 75.8% and 96.2% respectively, but the sensitivity showed a wide confidence interval. The Mallampati index was proven to be applicable in children 4 to 8 years old.

Perfil das malformações congênitas no berçário anexo à maternidade do Hospital das Clínicas da Universidade de São Paulo

OBJETIVO: Descrever a incidência e os tipos de malformações congênitas, a mortalidade e o tempo de permanência hospitalar de recém-nascidos (RN) portadores de malformações congênitas admitidos em berçário de alta complexidade de um hospital universitário. MÉTODOS: Estudo observacional retrospectivo e prospectivo de uma coorte de recém-nascidos vivos portadores de malformações congênitas. Foram incluídos todos os neonatos com malformação, nascidos no período de um ano (2007-2008) no Berçário Anexo à Maternidade do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Os dados foram obtidos por meio de análise de prontuários e avaliação dos RN. Para a descrição dos resultados, foram utilizadas a frequência relativa e absoluta das classes de cada variável qualitativa e medidas de tendência central e de dispersão (variáveis quantitativas). Na comparação entre as variáveis, foram usados o teste do qui-quadrado ou o teste exato de Fisher. RESULTADOS: Houve 1628 nascidos-vivos no período, sendo 93 (5,71%) portadores de malformações. Predominaram as malformações neurológicas (33%), urogenitais (32%) e craniofaciais (31%). Houve 46 (49,5%) RN de termo e 47 (50,5%) pré-termos; 41 (44,09%) foram RN de baixo peso. Dentre os RN com malformações, 86 (92%) apresentavam malformações maiores e 7 (8%), malformações menores. O tempo médio de internação foi de 43,8 dias. Houve 21 (22,6%) óbitos, com associação significante entre mortalidade e malformações (p&lt;0,0001), sobretudo cardíacas (p=0,014). CONCLUSÃO: A freqüência de malformações congênitas foi elevada em relação à descrita na literatura, havendo predomínio de malformações maiores. As anomalias mais comuns foram as neurológicas, conforme verificado por outros autores. Observou-se, também, uma mortalidade superior à encontrada na literatura, o que pode ser explicado pela gravidade dos casos descritos. A permanência hospitalar foi prolongada em relação à média dos recém-nascidos da unidade. Houve associação significante entre mortalidade e presença de malformações congênitas, principalmente cardíacas.

Prevalensi bayi lahir cacat (Malformasi Kongenital) di Rumah Sakit Pendidikan Fakultas Kedokteran Universitas YARSI

Congenital Malformations was instrumental in perinatal morbidity and infant mortality. Patients with severe disorders are classified to be affected physically, mentally, and socially and require special attention. Prevalence data from various types of congenital malformations may be useful to plan primary prevention measures for such disorders. The purpose of this study was to examine the prevalence of congenital malformations at the teaching hospitals, Faculty of Medicine, YARSI University. In this study, data were obtained from medical records in four teaching hospitals i.e. Abdul Muluk Hospital in Bandar Lampung, Lampung, Serang General Hospital in Serang, Banten, Garut General Hospital in Garut, and Gunung Jati General Hospital in Cirebon, West Java, within a period of three years i.e. 2005 to 2007. Based on ICD-10 codes, eight groups involving 18 types of birth defects were recorded. Among 25,276 babies born in four previously mentioned hospitals, 283 babies were born with congenital malformation. The prevalence of congenital malformations in Abdul Muluk Hospital was 11.31% with the frequency of 5.961/1,000 live birth, Serang Hospital was 13.78% with the frequency of 7.163/1,000 live birth, Garut Hospital was 33.92% with the frequency of 9.777/1,000 live birth and Gunung Jati Hospital was 40.99% with the frequency of 24.98/1000 live birth. Various disorders were noted, being the most common was disorder in the digestive system (25.80%), followed by the musculoskeletal system (20.49%), and the nervous system (16.61%). In conclusion, the total prevalence of congenital malformations in the teaching hospital, Faculty of Medicine, YARSI University was 1.12% with the frequency of 11.2/1000 live births. Congenital malformations were particularly prominent in Gunung Jati General Hospitals Cirebon, West Java.

Modified Surgical Technique for Combined Congenital External and Middle Ear Malformations

Hypothesis: There is a positive correlation between type and intensity of combined congenital ear malformations and results of surgical reconstruction. Background: Combined congenital malformations of external and middle ear pose a lot of surgical problems and demand adequate skill and planned, fractioned therapy. The goals of these operations are: limited number of operations with minimal complications, well cosmetic result, hearing improvement and easier use of hearing aid, removal of congenital cholesteatoma, preservation of labyrinth and facial nerve. Methods: The aim of this work is to present the experience in treating patients with combined malformations of external and middle ear. In the period between 1992 and 2001 seventeen patients with this type of congenital malformations were operated. Classical dilemma who operates first, plastic surgeon or otosurgeon is solved here by complete otosurgical treatment with reduced number of operations. Results: Totally 36 operation was performed, two reoperations were made in four patients, and also three operations in three patients for the reconstruction of deformity of auricle. In seven patients costal rib cartilage was used for auricular framework. Reoperations were done during the course of auricular reconstruction (14 operations), or because of meatal restenosis (five operations), or cartilage graft necrosis (one case). Atresia was adequately solved in 14 patients, while in three cases connective tissue meatal restenosis was found. The results of reconstruction of auricular malformation were aesthetically good in 13 patients and sufficient in four patients. Conclusion: We found positive correlation between external ear and middle ear deformity, and the results of reconstruction, as well. Two thirds of patients have hearing threshold level under 30 dB, while the threshold in other patients is 30-40 dB. Residual airbone gap amounting about 20 dB was universally present.

Study Participation and Nonresponse in a Population of Adolescents and Adults with Operated Congenital Heart Disease (GUCH Patients)

A group of patients after surgery of congenital heart defects was examined as to whether participants and nonparticipants (refusers, nonresponders, moved away, and deceased subjects) differed in terms of the type of congenital heart disease, the type of surgery (curative, reparative, and palliative), age and gender. A group of 698 subjects between 15 and 45 years were invited to participate in a study where a standardized interview was combined with a series of medical examinations. Finally, 361 patients participated, 121 explicitly refused, 92 did not respond, 91 had moved away, and 33 had died. Comparing participants and nonparticipants at the level of bivariate analyses using type of surgery, type of congenital malformation, gender, and age did not yield statistically significant differences. The final analysis using multivariate logistic regression revealed that individuals who underwent palliative treatment, the most severe type of surgery, had the same likelihood of not participating than patients with curative treatment. Classifying patients by the type of heart defect did not reveal group differences in the likelihood to participate. No differences for gender and age emerged. The analyses have shown that a worse health status may not lead to nonparticipation. As a consequence, we may conclude that selective nonparticipation because of the measures considered may not have occurred, and the likelihood for obtaining biased results can be considered as low.

Systematic Review: Is the Use of NSAIDs Safe During Pregnancy in Women With Rheumatic Disease?

To analyze the security of non-steroidal anti-inflammatory drugs (NSAID) in rheumatic disease patients during pregnancy.We performed a systematic review using a sensitive search strategy. All studies published in MEDLINE (since 1961), EMBASE (since 1961) and Cochrane Library (up to January 2008) were selected. We defined the population (pregnant women 16 years or above with a musculoskeletal disease), the intervention (use of NSAID), and the outcomes related to safety (number of live births, stillbirths, length of gestation and of labour, birth-weight, number and type of congenital malformations). The titles and abstracts of articles retrieved from the search were reviewed and high quality cohorts and case-control studies were included.Of a total of 149 references retrieved, only 8 were analyzed in detail, and 3 were finally included. More than 2600 pregnant patients were analyzed. There are many different NSAIDs as well as many different outcomes. Different NSAID were included as well as different outcomes. There was no increased risk of congenital malformations in two of the studies. In the third one there was an increased risk for cardiac malformations (OR=1.86; 95% CI, 1.32-2.62) and orofacial clefts (OR=2.61; 95% CI, 1.01-6.78).There is not enough information to support the negative effects of NSAIDs during pregnancy. On the other hand there is one study suggesting that the use of NSAIDs could increase the risk of cardiac and orofacial malformations in newborns, therefore these drugs should be used with caution.

Gonadal development and reproductive hormones in infant boys

Background: The intrauterine milieu plays a crucial role for cardiovascular and metabolic diseases in adulthood, but little is known about its impact on gonadal development and reproduction. Impaired testis development in fetal life can lead to cryptorchidism, hypospadias, impaired semen quality, and testicular cancer, disorders that may present symptoms of a testicular dysgenesis syndrome. The prevalence of these disorders appears to increase in many areas, probably due to environmental factors actingin utero. Denmark has a significantly higher incidence of testicular cancer and lower sperm quality than Finland.Methods: We conducted a population-based study of newborn boys from Denmark and Finland, in order to examine whether this geographic difference was reflected in the reproductive health of newborns.Results: Danish boys had a lower testis volume at birth, a smaller testis growth up to 18 months of age and lower serum inhibin B and FSH levels at 3 months than Finnish. Danish boys also had a higher prevalence of both cryptorchidism and hypospadias than Finnish boys. In boys with cryptorchidism and hypospadias subtle changes in hormonal levels occurred, towards increased gonadotropins and lower inhibin B in cryptorchidism. Both types of congenital malformations were more frequent in children born small for gestational age, indicative of a relationship between growth and reproductive development.Conclusions: These early postnatal findings suggest that the previously observed population differences in reproductive health between young Danish and Finnish men are of fetal origin. The differences may originate as a result of gene–environment interactions, where endocrine disrupters may also play a role.

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome

The 22q11.2 region is susceptible to chromosomal rearrangements, leading to various types of congenital malformation and mental retardation. The most common anomaly is 22q11.2 microdeletion, associated with DiGeorge/Velocardiofacial syndrome (DG/VCFS). Recently the microduplication 22q11.2 syndrome has been identified. Some clinical features in patients with this new chromosomal disorder present a substantial overlap with DG/VCFS. The aim of this hospital-based study was to evaluate the incidence of deletions and duplications on 22q11.2 in patients with DG/VCFS features. We investigated a group of 295 patients with widely variable manifestations associated with DG/VCFS. Along with the clinical diagnoses different anomalies were noted such as conotruncal cardiac anomaly, velopharyngeal insufficiency, characteristic facial dysmorphic features, language impairment, developmental delay/learning difficulties, and immunologic anomalies or thymic hypoplasia. Laboratory studies included conventional cytogenetic and FISH testing. Metaphase and interphase cells were analyzed for the presence of 22q11.2 microdeletion or microduplication. There were 12 patients who carried 22q11.2 microdeletion and no microduplication in the region was identified. Other chromosomal anomalies were reported in five patients with an overlapped DG/VCFS phenotype. All patients with 22q11.2 microdeletion showed a characteristic phenotype of DG/VCFS. We did not identify 22q11.2 microduplication, suggesting that this is a rare event in patients with DG/VCFS features.

Recent Advances on Neural Tube Defects with Special Reference to Valproic Acid

Epilepsy is a common medical problem and many studies have demonstrated that infants of women with epilepsy (WWE) have a two to threefold higher risk of congenital malformations compared with the background population. The majority of WWE have normal, healthy children. However, WWE have an increased risk of congenital malformations. Congenital malformations are twice as common in infants exposed to antiepileptic drugs in utero. A variety of congenital malformations have been reported, with a particular preponderance of orofacial clefts. Valproate is often associated with the development of neural tube defects. In this review, we analyse the problem of neural tube defects and report in detail the main pathogenetic theories about the onset of this type of congenital malformation. There is strong evidence for a protective effect of adequate folate consumption.

La importancia de la ecocardiografía fetal en la detección y el manejo de las malformaciones cardiacas congénitas

Using present-day high-resolution ultrasound scanners, it is possible to visualize and study the heart during the different stages of fetal growth in patients at risk of some forms of congenital heart disease. Detailed anatomical knowledge of cardiac structures combined with the accurate interpretation of echocardiographic images made during fetal development enable early diagnosis of particular forms of congenital disease that have serious pathophysiologic consequences. In addition, it also becomes possible to select the most appropriate nature and timing of delivery, and to organize early treatment for the newborn. Any decision taken on how to treat a fetus in which a congenital cardiac abnormality has been identified must be taken by a multidisciplinary team. This will help in coordinating the measures that must be taken after delivery and, in the near future, in implementing intrauterine surgery. Fetal echocardiography is establishing itself as a valuable tool in the management of the various types of congenital malformation, which together comprise the main cause of death among the newborn. In addition, the technique can be used to confirm and broaden our knowledge of the natural history of cardiac malformations, which are the most common congenital malformations. There is no doubt that the application and understanding of this imaging technology will increase the survival rate of newborns with specific congenital cardiac abnormalities, and will have a significant impact on long-term clinical outcome and quality of life in these patients.

Malformaciones congénitas en hijos de madres con diabetes gestacional

The risk of congenital malformations is two to three times higher among women with diabetes mellitus before pregnancy. Gestational diabetes is emerging as a risk factor for malformations. To study the rate and type of congenital malformations among offspring of women with pre-gestational or gestational diabetes. A search in the databases of the Collaborative Latin American Study for Congenital Malformations and of the Neonatology Unity of The University of Chile Clinical Hospital. All births from January 1998 through June 2004 were investigated. In the study period, 13,965 births occurred, of which 0.7% were stillbirths and 8.1% had malformations. A total of 295 women (2.1%) had diabetes (gestational diabetes in 1.8% and pre gestational diabetes in 0.3%). The prevalence of congenital malformations was 14% and 18.3% among offspring of mothers with pre-gestational and gestational diabetes, respectively (p=NS). The prevalence of congenital malformations among offspring of non diabetic women was 7.9% (p <0.001 with respect to diabetic women). Major malformations were found in 83% and 70% of malformed offspring of women with pre-gestational and gestational diabetes, respectively. Pregnant women with pre-existing or gestational diabetes have a higher risk of giving birth a child with malformations.

Fusion of the cerebellar hemispheres ventral to the brainstem: a rare hindbrain-related malformation

New variations of cerebellar malformations are being increasingly recognized using modern neuroimaging techniques. Until now only dorsal cerebellar fusion syndromes, such as the rhombencephalosynapsis and its variations have been recognized. We report on a 17-month-old male infant presenting with an exceptional hindbrain related malformation characterized by midline fusion of the cerebellar hemispheres ventral to the brainstem and causing symptoms due to brainstem compression. A more detailed understanding of the cerebellar embryogenesis is required to unravel the underlying mechanisms leading to this type of cerebellar malformation, which cannot easily be integrated into the common classification systems. Both the morphological features and the clinical presentation are different from those of other cerebellar structural abnormalities. If this type of congenital malformation is detected more frequently in the future, it seems reasonable that it should be added to the list of cerebellar malformations as a distinct type.