[Diagnosis and treatment of spontaneous meningoencephalocele in lateral recess of sphenoid sinus and analysis of its influencing factors].

Objective:To explore the influencing factors of adult spontaneous meningoencephalocele, which occurs in the lateral recess of sphenoid sinus, in order to improve the level of clinical diagnosis and treatment. Methods:The clinical data of 27 adults with spontaneous meningoencephalocele in lateral recess of sphenoid sinus in Department of the Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University from January 2017 to December 2022 were retrospectively analyzed. Preoperative sinus CT and MRI were performed to confirm the diagnosis and location of meningoencephalocele. Results:①There were 0 cases of lateral recess of sphenoid sinus type Ⅰ, 8 cases of lateral recess of sphenoid sinus type Ⅱ and 19 cases of lateral recess of sphenoid sinus type Ⅲ. ②Among the 27 adult patients with spontaneous meningoencephalocele, 9 were male and 18 were female, and the onset age was 19-72 years old, with an average age of（50.7±12.4） years old. 18 cases were complicated with cerebrospinal fluid leakage, 11 cases with headache and dizziness, 3 cases with recurrent meningitis（complicated with cerebrospinal fluid leakage）, and 2 cases with epilepsy. ③There were 20 patients with intracranial hypertension, 17 patients with body mass index（BMI） ≥25 kg/m², and 8 patients with empty sella. Conclusion:Type Ⅲ of lateral recess of sphenoid sinus is the most common type in adult spontaneous meningoencephalocele, and intracranial hypertension and obesity are the influencing factors of this disease. Puncture, biopsy or operation should not be performed for patients suspected of spontaneous meningoencephalocele, and imaging examination should be performed to identify the source of the tumor.

Surgical Outcomes of Retinal Detachment in Knobloch Syndrome.

PURPOSE: To describe the rate, characteristics, and outcomes of rhegmatogenous retinal detachment (RD) in patients with Knobloch syndrome. DESIGN: A single-center retrospective cohort study. PARTICIPANTS: Fifty patients with Knobloch syndrome diagnosed clinically, with or without molecular confirmation of recessive pathogenic COL18A1 variants. METHODS: A retrospective chart review of all patients diagnosed with Knobloch syndrome from November 1, 1983 to March 31, 2023. Demographic data, ophthalmic evaluation at baseline and follow-up, interventions, and final anatomic and visual outcomes were collected. MAIN OUTCOME MEASURES: Rate, time of onset, characteristics, and treatment outcomes of RD. RESULTS: Fifty patients with Knobloch syndrome were included. Males constituted 56% of cases. The diagnosis was confirmed with molecular genetic testing in 37 (74%) patients. Twenty-two patients (44%) had documented occipital bony defects or scalp lesions. Forty-eight of 100 eyes (48%) developed RD at a mean (standard deviation [SD]) age of 6.5 (6.1) years. The mean (SD) follow-up was 7.7 (5.6) years (range, 6 months to 24.3 years). Macular hole-related RD comprised 33% of RD cases. The overall single-surgery success rate was 36% and the final anatomic success rate was 70%. Macular hole-related RD carried a slightly worse prognosis with a 58% final anatomic success rate. Vitrectomy with adjunct scleral buckle and silicone oil tamponade provided the highest single-surgery success (62.2%). In eyes with measurable best-corrected visual acuity (BCVA), the mean preoperative BCVA was 1.2 logarithm of the minimum angle of resolution (Snellen equivalent, 20/320). After successful repair, mean visual acuity was 1.3 logarithm of the minimum angle of resolution (Snellen equivalent, 20/500). CONCLUSIONS: Retinal detachment in Knobloch syndrome is frequent and occurs in young children. Macular hole-related RD comprises one third of RD cases and requires careful macular evaluation. Vitrectomy, combined with scleral buckling and silicone oil tamponade, appears to provide the best anatomic outcomes. FINANCIAL DISCLOSURES: The authors have no proprietary or commercial interest in any materials discussed in this article.

Management of cerebrospinal-fluid-related intracranial abnormalities in frontoethmoidal encephalocele using "Shunt algorithm for frontoethmoidal encephalocele" (SAFE).

A cerebrospinal-fluid-related (CSF-related) problem occurred in 25-30% of frontoethmoidal encephalocele (FEE) cases. Since there was no algorithm or guideline, the judgment to treat the CSF-related problem often relies upon the surgeon's experience. In our institution, the early shunt was preferable to treat the problem, but it added risks to the children. We developed an algorithm, "Shunt Algorithm for Frontoethmoidal Encephalocele" (SAFE), to guide the surgeon in making the most reasonable decision. To evaluate the SAFE's efficacy in reducing unnecessary early shunting for FEE with CSF-related intracranial abnormality. Medical records of FEE patients with CSF-related abnormalities treated from January 2007 to December 2019 were reviewed. The patients were divided into two groups: before the SAFE group as group 1 (2007 - 2011) and after the SAFE group as group 2 (2012 - 2019). We excluded FEE patients without CSF-related abnormalities. We compared the number of shunts and the complications between the two groups. One hundred and twenty-nine patient's medical records were reviewed. The males were predominating (79 versus 50 patients) with an average age of 58.2±7.1 months old (6 to 276 months old). Ventriculomegaly was found in 18 cases, arachnoid cysts in 46 cases, porencephalic cysts in 19 cases, and ventricular malformation in 46 cases. Group 1, with a score of 4 to 7 (19 cases), received an early shunt along with the FEE repair. Complications occurred in 7 patients of this group. Group 2, with a score of 4-7, received shunts only after the complication occurred in 3 cases (pseudomeningocele unresponsive with conservative treatment and re-operation in 2 cases; a sign of intracranial hypertension in 1 case). No complication occurred in this group. Groups 1 and 2, with scores of 8 or higher (6 and 8 cases, respectively), underwent direct shunt, with one complication (exposed shunt) in each group. The SAFE decision algorithm for FEE with CSF-related intracranial abnormalities has proven effective in reducing unnecessary shunting and the rate of shunt complications.

Congenital trans-sellar trans-sphenoidal encephalocele: a systematic review of diagnosis, treatment, and prognosis.

PURPOSE: Clinical presentations encompass respiratory, feeding issues, nasopharyngeal mass, meningitis, CSF leakage, craniofacial anomalies, and endocrine problems. Surgery is the primary treatment, transitioning from frontal craniotomy to endoscopic methods, offering improved outcomes. Yet, more studies are needed. A comprehensive review on trans-sellar trans-sphenoidal encephalocele (TSTSE) is missing. Our study aims to fill this gap, offering a comprehensive perspective for physicians. METHODS: This review adhered to the PRISMA guideline. Eligible studies focused on human subjects, specifically trans-sellar encephaloceles, and provided comprehensive treatment details. English language articles published up to April 11th, 2023, were considered. Two trained researchers conducted article screening using consistent criteria. Data extraction covered various aspects, including clinical presentation, surgical methods, and outcomes, with results presented descriptively in two tables. Due to the rarity of this congenital anomaly, meta-analysis and publication bias assessment were not feasible. Data extraction was independently conducted by two reviewers, with subsequent cross-verification. RESULTS: A total of 36 patients were identified from 14 studies, the most frequently observed clinical presentation was dyspnea (41.67%) and the most frequently observed accompanying anomaly was cleft lip/palate (55.56%). CT and MRI were adopted in nearly all the cases, and trans-nasal approach was the most often used surgical approach (57.14%) with the 'soft material combination' the most commonly used method for cranial base repairment (35.71%). A total of two deaths occurred and diabetes insipidus was the most common perioperative complication which occurred in six surgery patients (21.43%). CONCLUSION: TSTSE predominantly affects males and presents with dyspnea, visual deficits, pituitary insufficiency, and cranial base-related symptoms. Early diagnosis is critical, with advanced imaging playing a key role. Endocrine assessment is vital for hormone management. Surgery offers symptom relief but entails risks, including reported fatalities and complications. The choice between surgery and conservative management requires careful deliberation. The trans-nasal approach is favored for its reduced trauma, yet further research is necessary to validate this preference.

Clinical presentation and outcomes of neonates born with neural tube defects- an experience from a level III B NICU in Western India.

PURPOSE: Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features. METHODS: It was a retrospective observational study; data of infants was obtained from medical records and analysis was done. RESULTS: Thirty-four neonates were enrolled, of which there were 16 (47%) males and 18 (53%) females. History of pre-pregnancy maternal folate intake was present in 4 (11.7%) cases. 33 (97%) babies were diagnosed with meningomyelocele (MMC) and one each had anencephaly, iniencephaly and encephalocele, of which one had frontal and two had occipital encephalocele. The median age of surgery was 16 days of life with primary repair being the most common procedure followed by MMC repair with VP shunt. Twenty babies (58.8%) were discharged successfully, while 9 (26.5%) expired and 5 (14.7%) were discharged against medical advice; which can be attributed to the financial problems of the patients in a developing country. The overall deaths in our series were four (26.5%) which is slightly higher than other studies which may be due to the fact that this study was conducted during the COVID era with lesser rates of folate supplementation, reduced access to prenatal diagnosis coupled with poor follow-up and compliance of patients post-surgical repair. CONCLUSION: This study emphasizes the importance of periconceptional folic acid supplementation, prenatal diagnosis, early surgery and meticulous follow-up as being pivotal to improving outcomes in children with NTDs.

Aplasia cutis congénita con encefalocele: a propósito de un caso clínico / Congenital aplasia cutis with encephalocele: clinical case study / Aplasia cútis congénita com encefalocele: relato de caso

La aplasia cutis es una rara alteración congénita caracterizada por la ausencia de piel, pudiendo llegar a estructuras más profundas: músculo, hueso y duramadre, como en el presente caso. Se localiza más frecuentemente en el cuero cabelludo, donde se asocia a un defecto óseo en el 20% de los casos. Recién nacido de sexo femenino, término, adecuado para la edad gestacional, vigoroso. Con diagnóstico prenatal a las 36 semanas de edad gestacional de encefalocele. Constatándose al nacimiento microcefalia, hipoplasia ósea y cutánea, encefalocele en línea media de cráneo. Se realizó manejo por equipo multidisciplinario, se practicaron varias intervenciones quirúrgicas, con buena evolución.

Aplasia Cutis is a rare congenital condition, defined by the absence of skin in a particular body region, it can also compromise muscle, bone and dura mater as shown in this case. It is mostly located on the scalp, where it is associated with a bone defect in 20% of cases. We will discuss the case of a female newborn, term gestation, vigorous at birth, with prenatal diagnosis of encephalocele at 36 weeks of gestational age. We observed microcephaly, bone and skin hypoplasia, encephalocele in the midline of the skull at birth. Several surgical interventions were carried out and the follow-up was made by a multidisciplinary team, with good evolution.

A Aplasia Cútis é uma alteração congênita rara, caracterizada pela ausência de pele, podendo atingir estruturas mais profundas: muscular, óssea e dura-máter, como neste caso. Localiza-se mais frequentemente no couro cabeludo, onde está associada a um defeito ósseo em 20% dos casos. É apresentado caso de recém-nascida do sexo feminino, a termo, adequada para idade gestacional, vigorosa. Com diagnóstico pré-natal às 36 semanas de idade gestacional de Encefalocele. Microcefalia, hipoplasia óssea e cutânea e encefalocele na linha média do crânio foram confirmadas ao nascimento. O manejo foi realizado por equipe multidisciplinar, diversas intervenções cirúrgicas, com boa evolução.

Bullous Aplasia Cutis as a Presenting Sign of Encephalocele.

This case report describes a congenital cystic scalp nodule on a 2-week-old infant.

Post-traumatic intra-orbital meningoencephalocele in adults: technical note on a rare entity and review of the literature.

Post-traumatic orbital meningoencephaloceles related to orbital roof fractures are a challenging clinical entity because of their rarity and difficult differential diagnosis. We report a case of post-traumatic intra-orbital meningoencephalocele in a 69-year-old man, secondary to a likely trapdoor mechanism, treated with a modified one-piece orbitozygomatic craniotomy. We also performed an extensive literature review of traumatic Intra-Orbital Encephalocele related to Orbital Roof Fracture focused on adult patients on electronic databases including Scopus, MEDLINE/PubMed, and Google Scholar. Patient well recovered after surgery with immediate exophthalmos resolution and discharged without visual or neurological deficits. The literature review included 22 papers with a total of 28 patients: 22 males (78.6%) and 6 females (21.4%), with a median age of 34.7 years. Twenty-six patients (92.9%) reported ocular injuries, with associated intracranial complications in 16 cases (61.5%). Twenty-seven patients (96.4%) were surgically treated, 18 of those underwent unilateral or bilateral frontal approach. Most orbital roof fractures can be managed nanoperatively if asymptomatic. Indeed, when the intra-orbital volume decreases, for example due to an encephalocele, the intra-orbital pressure could increase and determine an orbital compartment syndrome. In our case, we performed a one-piece modified orbitozygomatic approach, which has several advantages in comparison to the frequent unilateral or bilateral frontal craniotomy like the better exposure of the brain and orbit and a minimum brain retraction.

[Occipital encephalocele and associated anomalies including bilateral eyelid coloboma, bilateral cleft lip/cleft palate, amniotic bands on the right leg with absence of toes on right and left feet at the University Clinics of Graben Butembo 2021: a case report]. / Encéphalocèle occipitale et anomalies associées: colobome palpébral bilatéral, fente labio-palatine bilatérale et bride amniotique sur la jambe droite avec absence des orteils sur pieds droit et gauche aux Cliniques Universitaires du Graben Butembo 2021 (à propos d'un cas).

Encephalocele is a malformation due to a defect in the closure of the neural tube causing herniation of brain tissue and/or meninges through this congenital skull defect. The size of encephalocele varies from a few centimeters to a huge mass called "giant encephalocele". Content usually consists of degenerative neural tissue, meninges and a cystic part. We here report the case of a 4-month-old infant, born of non-consanguineous parents, who was referred with congenital occipital mass. Upon arrival at our clinic, clinical examination revealed a weight of 3500g, a head circumference of 33 cm, with a non-bulging anterior fontanelle. She presented with a huge renitent occipital mass measuring 43X25cm, with a height of 15cm was found. absence of both eyelids, bilateral lip and palate fissures; a constriction ring on the right leg, absence of toes on the right and left feet. A diagnosis of an amniotic band syndrome was made, with as components: occipital encephalocele associated with a bilateral palpebral coloboma, a bilateral cleft lip and palate, and amniotic bands on the right leg, and amputation of the toes of the right and left feet.

Temporal encephalocele: a rare but treatable cause of temporal lobe epilepsy

Objective: Although rare, temporal encephalocele is an important causative agent in surgically remediable drug-refractory epilepsy. The ideal treatment for temporal encephalocele remains unclear with a variety of resective surgeries recommended. Here, we analyse patient data on temporal encephalocele with a view to highlighting diagnostic clues and management strategies. Methods: Comprehensive databases at Deenanath Mangeshkar Hospital, Pune from January 2015 to June 2019 were reviewed for this observational study. Of 107 temporal lobe epilepsy surgery patients, nine individuals with temporal encephalocele were identified, who formed the study cohort. Their clinical, neuropsychological, EEG, imaging and long-term outcome data were analysed. Results: The study cohort consisted of seven males and two females with a mean age of 22 years. Epilepsy onset age varied from 4.5 to 19 years. Seven patients had focal non-motor seizures with impaired awareness, while two patients had focal motor seizures. Temporal encephalocele detection by MRI was reported in only two patients, and was missed in seven individuals. Three patients underwent standard anterior temporal lobectomy while the remaining six underwent resection of the temporal encephalocele with surrounding temporal pole. Eight patients showed Engel Class I outcome and one showed Class IIa outcome after a mean follow-up duration of 27 months (17-44 months). Histopathology confirmed gliosis in seven, hippocampal sclerosis type I in one and suspicious dyslamination with prominent gliosis in one patient. Six of eight patients reported an improvement in their psychological state (mood, anxiety and motivation) over time. Significance: A careful review of MRI in patients with temporal lobe epilepsy is necessary, followed by investigations for the presence of an encephalocele. When temporal lobe epilepsy is associated with encephalocele, tailored resection of the encephalocele and the surrounding temporal pole, sparing mesial temporal structures, demonstrates excellent long-term clinical and neuropsychological outcome.

[Knobloch syndrome: a case report].

A 5-year-old girl came to the Tianjin Medical University Eye Hospital in May 2021 because of her poor eyesight after birth. The physical examination showed that she had high myopia, esotropia, horizontal tremor, and high myopia retinopathy of both eyes. After inquiring about her medical history, we found that the baby's occipital cystic mass swelled after birth, and CT examination showed that the occipital skull plate defect with meningocele, but without treatment, at present, the occipital mass had subsided by itself. Considering the eye manifestations and skull changes of the child, it may be conformed to Knobloch syndrome, after the detection of V4 by full exon gene, it was found that the child had the compound heterozygous variation of pathogenic gene COL18A1, and Knobloch syndrome was definite, Knobloch syndrome is a rare autosomal recessive hereditary disease with typical features of high myopia, retinal detachment and occipital encephalocele. At present, there is no clear treatment plan, and gene therapy may be an effective treatment for Knobloch syndrome in the future.

Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.

Meckel syndrome (MKS, OMIM:249000) is a severe multiorgan dysplastic lethal ciliopathy with extreme genetic heterogeneity. Defects in RPGRIP1L are the cause of MKS type 5 (MKS5, OMIM:611561). However, only six different variants have been reported in eight MKS5 cases with biallelic variants. Here, we describe the case of a Chinese family with recurrent fetal malformations. The proband was a 14-week gestation fetus with occipital encephalocele, polycystic kidneys, polydactyly, and single ventricular heart. Trio whole-exome sequencing was performed, and two novel compound heterozygous variants of RPGRIP1L (c.427C > T, p.Gln143Ter and c.1351-11A > G) were identified. cDNA studies of the splicing variant demonstrated a reading-frame shift with a subsequent premature stop codon (p.Glu451Serfs*6). After the proband was diagnosed with MKS5, the couple chose preimplantation genetic testing for monogenic disorders (PGT-M) and prenatal genetic diagnosis (PND) to prevent the transmission of pathogenic variants, which led to a successful pregnancy recently. In summary, we have identified two novel variants of RPGRIP1L in a Chinese family, which expand the variant spectrum of MKS5. Furthermore, we have described the successful application of PGT-M and PND in this family. These techniques could assist couples with a genetic predisposition in avoiding the transmission of genetic diseases to their offspring.

[On the tactics of management and treatment of patients with congenital cerebral hernias in their localization in the maxillofacial region]. / O taktike vedeniya i lecheniya bol'nykh s vrozhdennymi mozgovymi gryzhami pri ikh lokalizatsii v chelyustno-litsevoi oblasti.

The analysis of the state of two patients with congenital cerebral hernias was carried out, which made it possible to establish differences in the effect of hernias on the state of the body. In the first case, the hernia is localized in the nasal cavity, and after its removal, the postoperative cerebrospinal fluid (CSF) leakage was stopped by a flap of the mucous membrane from the opposite side of the nasal septum. In the second case clinical analysis and computed tomography made it possible to state that the hernia was in the retromaxillary space and did not affect the patient's condition. Computed tomography shows signs of moderate blood pressure on the adjacent formations, and removal of the hernia and stopping the subsequent CSF leakage were impossible. The presented observations demonstrate an ambiguous approach to resolving the issue of surgical intervention in such cases.

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.

Background: Antenatally detected occipital encephalocele and polycystic kidneys are a common presentation of ciliopathies like Joubert syndrome and Meckel Gruber syndrome which have considerable genetic and phenotypic overlap. Case reports: We describe 3 cases of antenatally diagnosed occipital encephalocele and enlarged kidneys with fetal autopsy, histopathology & exome sequencing results. A novel nonsense variant in the CEP290 gene was reported in first case (Meckel syndrome). The second case shows the importance of fetal exome where the parents were carriers for 2 ciliopathy genes (TMEM138 & SDCCAG8). Diagnosis in this case was confirmed by fetal exome sequencing (Joubert syndrome). Multiexon deletion in TMEM67 and KIF14 present in trans was identified in the third case (Meckel syndrome), likely resulting in digenic inheritance. Conclusion: We report 2 cases of Meckel syndrome with a novel variant and multiexon deletion, and 1 case of Joubert syndrome which depicts the limitations of preconceptional carrier screening in ciliopathies due to overlapping phenotypes.

HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.

HK1 deficient Haemolytic Anaemia in association with a Neurological Phenotype & co-existing Meckel-Gruber due to CEP290 in a Romani family.

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

BACKGROUND: To establish the molecular diagnosis in two brothers presenting with the ocular features of Knobloch Syndrome using whole genome sequencing (WGS). METHODS: Clinical examination and ophthalmological phenotyping were completed under general anaesthesia. DNA samples were tested on a targeted retinal dystrophy next-generation sequencing panel. Subsequently, WGS was performed to identify additional variants. RESULTS: Clinical examination confirmed the diagnosis of Knobloch Syndrome. Targeted sequencing identified a novel heterozygous frameshift pathogenic variant in COL18A1, c.2864dupC; p.(Gly956ArgfsX20), inherited from their mother. A second paternally inherited heterozygous missense variant was identified in both brothers, c.5014 G > A; p.(Asp1672Asn), which was initially considered to have too high frequency to be pathogenic (MAF 8.8%). This led to an in-depth analysis of the COL18A1 locus using WGS data, which confirmed that Asp1672Asn is a likely pathogenic hypomorphic allele. CONCLUSION: To date, all confirmed genetic diagnoses of Knobloch syndrome are attributable to variants in COL18A1. The family described here has a heterozygous novel loss of function variant. Detailed analysis of WGS data combined with family segregation studies concluded that although Asp1672Asn has a high population frequency, it is the most likely second pathogenic variant in our family. This supports the hypothesis that this is a hypomorphic allele, which, in combination with a loss of function pathogenic variant, leads to Knobloch syndrome.To our knowledge, this is the first time that WGS has been used to confirm a molecular diagnosis of Knobloch syndrome in this way and has provided further insight into the molecular mechanisms in this rare disorder.

Continuous Quantitative Electroencephalogram (EEG) Monitoring for Early Detection of Brain Herniation in Large Hemispheric Infarction (LHI): A Case Report.

BACKGROUND: Computer-assisted electroencephalography (EEG) systems may improve the likelihood of detecting abnormal EEGs in adult patients with severe disease. CASE PRESENTATION: We implemented long-range EEG monitoring in a patient with large hemispheric infarction (LHI) and explored its real-time changes in reflecting the patient's brain function. The bands of Alpha, Beta, Delta, Theta, DAR (Delta/Alpha), DTABR (Delta+Theta/Alpha+Beta), and brain symmetry index (BSI) were calculated as a ratio of total power. The test results showed that this patient presents a progressive worsening trend and developed brain herniation. The sigh at the electrophysiological level of brain herniation could be seen 6 h in advance based on the quantitative EEG (QEEG) parameters test. We calculated QEEG at both C3 and C4, electrode locations simultaneously, and the results showed that the trend of QEEG at both electrodes was consistent with the global, affected, and unaffected side. CONCLUSIONS: QEEG parameters can reflect the trend of LHI patients in real-time and may predict the occurrence of LHI brain herniation. For LHI patients, monitoring with fewer EEG electrodes can be tried to predict the changes in conditions.