Background: Encephalocele is defined as the externalization of brain tissue and/or meninges out of the skull through a congenital bone defect. It’s a rare congenital malformation with a high risk of mortality and mor...Background: Encephalocele is defined as the externalization of brain tissue and/or meninges out of the skull through a congenital bone defect. It’s a rare congenital malformation with a high risk of mortality and morbidity. Unfortunately, Prenatal diagnostic is still rare. Aims: The aim is to describe the main characteristic of this malformation and the optimal management to improve the prognosis. Case Presentation: we report the case of 32-year-old women diagnosed at 34 weeks gestation with a live fetus with occipital encephalocele. Conclusion: Through this case and the review of the literature we will highlight the diagnostic sources in order to improve the diagnosis and the management.展开更多
Background: Encephaloceles are congenital neural tube defects characterized by the protrusion of meninges and/or brain tissue from a defect in the skull. The incidence of the disease is about 0.8 - 5.6/10,000 live bir...Background: Encephaloceles are congenital neural tube defects characterized by the protrusion of meninges and/or brain tissue from a defect in the skull. The incidence of the disease is about 0.8 - 5.6/10,000 live births. They are classified based on the location and type of skull defect as occipital encephalocele, encephalocele of the cranial vault, frontoethmoidal encephalocele, and basal encephaloceles. Surgical reduction being the first line treatment and resection of herniated structures may be necessary when the encephalocele is large. In the present study, the authors present their experience in treating 17 patients with encephaloceles. Methods: This study is a retrospective analysis of 17 patients from January 2013 to December 2016 in Gabriel Touré Hospital, Bamako, Mali. A history was obtained from the family at presentation. Medical information before and during the pregnancy was compiled. All patients underwent CT scan as a routine preoperative imaging study, to evaluate the encephalocele and to plan the surgical procedure. The following data were recorded for analysis: age, sex, location of encephalocele, neurological status, operative method, postoperative complications and surgical results. Results: There were 10 (58.8%) female and 7 (41.2%) male patients. The patients ranged in age from 3 days to 36 months. The most common site of encephalocele sac was the occipital region in 14 (82.4%) cases followed by the frontal region in 2 (11.8%) cases and the vertex in 1 (5.9%) case. The sac size was less than 3 cm in 5 (17.6%) cases, 3 - 5 cm in 8 (47.1%) cases and more than 5 cm in 4 (23.5%) cases. Three (17.6%) children presented with CSF leakage. Hydrocephalus was present in the preoperative period in 6 (35.3%) cases;all of them required VP shunt procedure. None of the cases had a preoperative neurologic deficit. Surgical excision was performed in all cases. In the postoperative period, meningitis developed in 2 cases (11.8%), wound infection in 1 case (5.9%) and seizure in 1 case (5.9%). Three patients (17.6%) died during postoperative follow-up. Postoperative hydrocephalus occurred in 1 (5.88%) patient requiring a VP shunt. Conclusion: Encephaloceles are commonly seen in the practice of neurosurgery in the world as well as in Mali. In this study, the clinical manifestations and surgical results of 17 cases have been reviewed. We recommend early repair and excision of encephaloceles to avoid rupture or skin excoriation.展开更多
Spontaneous cerebrospinal fluid rhinorrhoea with encephalocele restricted to the sphenoid sinus is rare clinical finding. As of today, only 17 cases encephalocele protruding through the Sternberg’s canal and extendin...Spontaneous cerebrospinal fluid rhinorrhoea with encephalocele restricted to the sphenoid sinus is rare clinical finding. As of today, only 17 cases encephalocele protruding through the Sternberg’s canal and extending into the lateral recess of sphenoid sinus, have been described in literature. Patients presenting with this special clinical entity usually do not have any history of trauma, tumour or iatrogenic injury. Thus the lesions are considered to originate from a congenital bony defect in the lateral wall of the sphenoid sinus, first described by Sternberg in 1888 as the lateral craniopharyngeal canal (Sternberg’s canal). In our experience each patient of spontaneous CSF rhinorrhea should have suspicion of intrasphenoid encephalocele though cribriform plate is a common site. Endoscopic tranasnasal approach is one of the best modalities for such cases.展开更多
Meckel–Gruber syndrome(MGS)is a rare lethal congenital malformation affecting 1 in 13,250–140,000 live births.The classical diagnostic triad comprises multicystic dysplastic kidneys,occipital encephalocele,and posta...Meckel–Gruber syndrome(MGS)is a rare lethal congenital malformation affecting 1 in 13,250–140,000 live births.The classical diagnostic triad comprises multicystic dysplastic kidneys,occipital encephalocele,and postaxial polydactyly.It can variably be associated with other malformations such as cleft lip and palate,pulmonary hypoplasia,hepatic fibrosis,and anomalies of central nervous system.A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly,microphthalmia,hypertelorism,cleft lip and palate,neonatal teeth,and the right side club foot which were detected only after doing autopsy.This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death,especially where the antenatal diagnosis has not been made previously.A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.展开更多
Introduction:Nasal glial heterotopia is a rare congenital developmental disorder characterized by meningeal epithelium and/or glial components.Case presentation:A 2-month-old boy presented for treatment of a congenita...Introduction:Nasal glial heterotopia is a rare congenital developmental disorder characterized by meningeal epithelium and/or glial components.Case presentation:A 2-month-old boy presented for treatment of a congenital mass in the right nasal cavity near the pharynx.The preoperative diagnosis was congenital intranasal neoplasm.Nasal endoscopic resection of the nasopharyngeal mass was performed under general anesthesia.Histological findings in the resected tissue supported a diagnosis of intranasal glial heterotopia.The surgical outcome was good and no surgical site infection occurred.During 1 year of follow-up,the patient did not exhibit recurrence of heterotopia or related symptoms.Conclusion:Transnasal endoscopic surgery is recommended for patients with intranasal glial heterotopia.Thorough preoperative imaging should be performed before glioma resection.The mass should be differentiated from encephalocele to prevent cerebrospinal fluid leakage and meningitis.展开更多
文摘Background: Encephalocele is defined as the externalization of brain tissue and/or meninges out of the skull through a congenital bone defect. It’s a rare congenital malformation with a high risk of mortality and morbidity. Unfortunately, Prenatal diagnostic is still rare. Aims: The aim is to describe the main characteristic of this malformation and the optimal management to improve the prognosis. Case Presentation: we report the case of 32-year-old women diagnosed at 34 weeks gestation with a live fetus with occipital encephalocele. Conclusion: Through this case and the review of the literature we will highlight the diagnostic sources in order to improve the diagnosis and the management.
文摘Background: Encephaloceles are congenital neural tube defects characterized by the protrusion of meninges and/or brain tissue from a defect in the skull. The incidence of the disease is about 0.8 - 5.6/10,000 live births. They are classified based on the location and type of skull defect as occipital encephalocele, encephalocele of the cranial vault, frontoethmoidal encephalocele, and basal encephaloceles. Surgical reduction being the first line treatment and resection of herniated structures may be necessary when the encephalocele is large. In the present study, the authors present their experience in treating 17 patients with encephaloceles. Methods: This study is a retrospective analysis of 17 patients from January 2013 to December 2016 in Gabriel Touré Hospital, Bamako, Mali. A history was obtained from the family at presentation. Medical information before and during the pregnancy was compiled. All patients underwent CT scan as a routine preoperative imaging study, to evaluate the encephalocele and to plan the surgical procedure. The following data were recorded for analysis: age, sex, location of encephalocele, neurological status, operative method, postoperative complications and surgical results. Results: There were 10 (58.8%) female and 7 (41.2%) male patients. The patients ranged in age from 3 days to 36 months. The most common site of encephalocele sac was the occipital region in 14 (82.4%) cases followed by the frontal region in 2 (11.8%) cases and the vertex in 1 (5.9%) case. The sac size was less than 3 cm in 5 (17.6%) cases, 3 - 5 cm in 8 (47.1%) cases and more than 5 cm in 4 (23.5%) cases. Three (17.6%) children presented with CSF leakage. Hydrocephalus was present in the preoperative period in 6 (35.3%) cases;all of them required VP shunt procedure. None of the cases had a preoperative neurologic deficit. Surgical excision was performed in all cases. In the postoperative period, meningitis developed in 2 cases (11.8%), wound infection in 1 case (5.9%) and seizure in 1 case (5.9%). Three patients (17.6%) died during postoperative follow-up. Postoperative hydrocephalus occurred in 1 (5.88%) patient requiring a VP shunt. Conclusion: Encephaloceles are commonly seen in the practice of neurosurgery in the world as well as in Mali. In this study, the clinical manifestations and surgical results of 17 cases have been reviewed. We recommend early repair and excision of encephaloceles to avoid rupture or skin excoriation.
文摘Spontaneous cerebrospinal fluid rhinorrhoea with encephalocele restricted to the sphenoid sinus is rare clinical finding. As of today, only 17 cases encephalocele protruding through the Sternberg’s canal and extending into the lateral recess of sphenoid sinus, have been described in literature. Patients presenting with this special clinical entity usually do not have any history of trauma, tumour or iatrogenic injury. Thus the lesions are considered to originate from a congenital bony defect in the lateral wall of the sphenoid sinus, first described by Sternberg in 1888 as the lateral craniopharyngeal canal (Sternberg’s canal). In our experience each patient of spontaneous CSF rhinorrhea should have suspicion of intrasphenoid encephalocele though cribriform plate is a common site. Endoscopic tranasnasal approach is one of the best modalities for such cases.
文摘Meckel–Gruber syndrome(MGS)is a rare lethal congenital malformation affecting 1 in 13,250–140,000 live births.The classical diagnostic triad comprises multicystic dysplastic kidneys,occipital encephalocele,and postaxial polydactyly.It can variably be associated with other malformations such as cleft lip and palate,pulmonary hypoplasia,hepatic fibrosis,and anomalies of central nervous system.A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly,microphthalmia,hypertelorism,cleft lip and palate,neonatal teeth,and the right side club foot which were detected only after doing autopsy.This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death,especially where the antenatal diagnosis has not been made previously.A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.
文摘Introduction:Nasal glial heterotopia is a rare congenital developmental disorder characterized by meningeal epithelium and/or glial components.Case presentation:A 2-month-old boy presented for treatment of a congenital mass in the right nasal cavity near the pharynx.The preoperative diagnosis was congenital intranasal neoplasm.Nasal endoscopic resection of the nasopharyngeal mass was performed under general anesthesia.Histological findings in the resected tissue supported a diagnosis of intranasal glial heterotopia.The surgical outcome was good and no surgical site infection occurred.During 1 year of follow-up,the patient did not exhibit recurrence of heterotopia or related symptoms.Conclusion:Transnasal endoscopic surgery is recommended for patients with intranasal glial heterotopia.Thorough preoperative imaging should be performed before glioma resection.The mass should be differentiated from encephalocele to prevent cerebrospinal fluid leakage and meningitis.
