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Journal of Neurosurgical Sciences Aug 2024Arachnoid cysts are primarily dysembryogenetic splitting or duplication of the embryonic meningeal mesenchyme, hence the paediatric preponderance. Neuroendoscopic...
INTRODUCTION
Arachnoid cysts are primarily dysembryogenetic splitting or duplication of the embryonic meningeal mesenchyme, hence the paediatric preponderance. Neuroendoscopic cysto-cisternostomy is now the favoured treatment option. We pooled data on middle fossa arachnoid cysts (MCFAC) demographics, clinical presentations, cyst characteristics, neuro-endoscopic cysto-cisternostomy and its outcomes.
EVIDENCE ACQUISITION
Using search words (from the keywords; 'endoscopic treatment' and 'middle fossa arachnoid cysts') combined using Boolean operators, a systematic review of the PubMed and Cochrane CENTRAL was started on 1 February 2023, as per protocol (PROSPERO CRD42023394345); 65 records and then 46 reports were screened, 169 cases were pooled from the 19 recruited reports for the qualitative and quantitative syntheses, after methodological assessment (significantly excellent 57.9% quality) using the Joanna Briggs Institute critical appraisal tools.
EVIDENCE SYNTHESIS
The male-to-female ratio was 2.4:1, with a weighted average-age of 11.25 years in the modal childhood (32.0%) age-group. Headaches (53/29.3%), seizures (30/16.6%) and macrocephaly (25/13.8%) were the commonest presentations. Right-sided (30/55.6%) and Galassi II (55/48.3%) and III (53/46.5%) lesions were common. Rigid (124/93.9%) endoscopes aided cysto-cisternostomy using mostly bipolar diathermy (31/43.7%) and ventriculostomy forceps (18/25.4%); creating one (22/18.3%), two (14/11.6%) or more (78/65.0%) stomas. Fenestration sites were specifically CNIII&ICA (32/25.8%), CNII&ICA (27/21.8%), CNIII&tentorium cerebelli (23/18.6%), CNIII&PCA (1/0.8%) and through the side of CNVI (1/0.8%) into the pre-pontine cistern. Good clinical and radiological outcomes were reported.
CONCLUSIONS
Largely excellent-to-good quality, low-level evidence reported MCFACs presenting in childhood with headaches, seizures and macrocephaly. At least two fenestrations using bipolar-diathermy/forceps and balloon-catheter expansion were used for cysto-cisternostomy, with good outcomes.
Topics: Humans; Arachnoid Cysts; Neuroendoscopy; Cranial Fossa, Middle; Male; Female; Child; Treatment Outcome
PubMed: 38949058
DOI: 10.23736/S0390-5616.24.06240-4 -
Journal of Neurosurgery. Pediatrics Jun 2024Hydrocephalic macrocephaly can result in poor psychosocial development, positioning difficulties, skin breakdown, and poor cosmesis. Although reduction cranioplasty can...
OBJECTIVE
Hydrocephalic macrocephaly can result in poor psychosocial development, positioning difficulties, skin breakdown, and poor cosmesis. Although reduction cranioplasty can address these sequelae, the postoperative outcomes, complications, and mortality risk of reduction cranioplasty are not well understood given the rarity of hydrocephalic macrocephaly. Therefore, the primary objective of this systematic review was to evaluate the surgical outcomes of reduction cranioplasty for the treatment of hydrocephalic macrocephaly.
METHODS
A systematic review was performed using the PubMed, Scopus, and Web of Science databases while following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Two independent reviewers screened 350 studies; 27 studies reporting surgical outcomes on reduction cranioplasty for hydrocephalic macrocephaly met inclusion criteria. Data on study design, patient demographics, operative details, and surgical outcomes were collected.
RESULTS
There were 65 reduction cranioplasties among the 27 included studies. Eighteen (66.7%) studies presented level V evidence, 7 (25.9%) presented level IV evidence, and 2 (7.4%) presented level III evidence. Following reduction cranioplasty, there was improvement in postoperative head positioning in 23 (85.2%) studies, improvement in postoperative cosmesis in 22 (81.5%) studies, and improvement in global postoperative neurological functioning in 20 (74.1%) studies. The median estimated blood loss was 633 mL (range 20-2600 mL). Shunt revisions were the most common complication, reported in 9 (47.4%) of the 19 studies assessing complications. Of the 65 patients, there was a mortality rate of 6.2% (n = 4).
CONCLUSIONS
The majority of the included studies reported improvement in head size, head positioning, cranial cosmesis, and global neurological functioning following reduction cranioplasty for hydrocephalic macrocephaly. However, the prevalence of lower-level evidence, risk of blood loss, complications, and mortality indicates the need for a serious discussion of surgical indication, an experienced team, and thorough perioperative planning to perform these complex surgeries.
PubMed: 38905711
DOI: 10.3171/2024.4.PEDS23486 -
Child's Nervous System : ChNS :... Jan 2024Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple... (Review)
Review
Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients. However, calvarial bone defects are rare. After screening 324 articles, 23 cases (12 adult and 11 pediatric patients) of occipital bone defects in NF1 patients were selected. All patients had a single/multiple bone defect over the lambdoid suture. Adjacent benign plexiform neurofibromas were observed in 14 patients (60.8%, 7 adults and 7 children); one adult patient was diagnosed with neurofibrosarcoma. Meningoencephalocele over the occipital defect was noted in 8 cases (34.78%, all adults). Cranioplasty was performed in only 17.39% of patients. Histologic examination was performed in 7 of the 15 patients with associated neurofibromas/neurofibrosarcomas. Biopsy of the bone margins surrounding the defect was performed in only one case. Pathologic examination of the herniated parieto-occipital or cerebellar tissue was not performed in any of the patients studied. We report the case of a 9-year-old girl with NF1 and a significant occipital bone defect and performed a systematic review of the relevant literature to highlight the challenges in treating this condition and to investigate the underlying mechanisms contributing to bone defects or dysplasia in NF1.
Topics: Adult; Female; Humans; Child; Neurofibromatosis 1; Cafe-au-Lait Spots; Mutation; Encephalocele; Occipital Bone
PubMed: 37993698
DOI: 10.1007/s00381-023-06232-4 -
American Journal of Medical Genetics.... Jun 2023The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated...
The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7-month-old female who has a 6.07 MB 6p25.1p25.3 deletion and a 4.25 MB 17q25.3 duplication. Our patient presented with multiple congenital anomalies, including macrocephaly, frontal bossing, low set ears, tent-shaped mouth, saddle nose, flat midface, and hearing impairment. Her ophthalmic features included proptosis, down-slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryotoxon, and decentered and abnormally shaped pupils. A systematic review of the published cases with sufficient clinical eye descriptions included 63 cases with a confirmed 6p25 deletion. The most common eye findings observed were posterior embryotoxon, iris hypoplasia, corectopia, cornea opacity, and glaucoma.
Topics: Humans; Female; Infant; Chromosome Deletion; Eye Abnormalities; Glaucoma; Syndrome; Chromosomes
PubMed: 36941760
DOI: 10.1002/ajmg.a.63186 -
BMC Genomics Dec 2022Modern human brains and skull shapes differ from other hominids. Brain growth disorders as micro- (ASPM, MCPH1) and macrocephaly (NFIX, GLI3) have been highlighted as...
BACKGROUND
Modern human brains and skull shapes differ from other hominids. Brain growth disorders as micro- (ASPM, MCPH1) and macrocephaly (NFIX, GLI3) have been highlighted as relevant for the evolution in humans due to the impact in early brain development. Genes associated with macrocephaly have been reported to cause this change, for example NSD1 which causes Sotos syndrome.
RESULTS
In this study we performed a systematic literature review, located the reported variants associated to Sotos syndrome along the gene domains, compared the sequences with close primates, calculated their similarity, Ka/Ks ratios, nucleotide diversity and selection, and analyzed the sequence and structural conservation with distant primates. We aimed to understand if NSD1 in humans differs from other primates since the evolution of NSD1 has not been analyzed in primates, nor if the localization of the mutations is limited to humans. Our study found that most variations causing Sotos syndrome are in exon 19, 22 and 10. In the primate comparison we did not detect Ka/Ks ratios > 1, but a high nucleotide diversity with non-synonymous variations in exons 10, 5, 9, 11 and 23, and sites under episodic selection in exon 5 and 23, and human, macaque/colobus/tarsier/galago and tarsier/lemur/colobus. Most of the domains are conserved in distant primates with a particular progressive development from a simple PWWP1 in O. garnetti to a complex structure in Human.
CONCLUSION
NSD1 is a chromatin modifier that suggests that the selection could influence brain development during modern human evolution and is not present in other primates; however, nowadays the nucleotide diversity is associated with Sotos syndrome.
Topics: Humans; Animals; Sotos Syndrome; Histone Methyltransferases; Histone-Lysine N-Methyltransferase; Tarsiidae; Colobus; Nuclear Proteins; Mutation; Exons; Hominidae; Megalencephaly; Nucleotides; Cytoskeletal Proteins; Cell Cycle Proteins
PubMed: 36550402
DOI: 10.1186/s12864-022-09071-w -
Current Pediatric Reviews 2023Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the...
BACKGROUND
Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the clinical heterogeneity of SRS makes diagnosis a challenging task, the worldwide incidence of SRS could vary from 1:30,000 to 1:100,000. Although various chromosomal, genetic, and epigenetic mutations have been linked with SRS, the cause had only been identified in half of the cases.
MATERIAL AND METHODS
To have a better understanding of the SRS clinical presentation and mutation/ epimutation responsible for SRS, a systematic review of the literature was carried out using appropriate keywords in various scientific databases (PROSPERO protocol registration CRD42021273211). Clinical features of SRS have been compiled and presented corresponding to the specific genetic subtype. An attempt has been made to understand the recurrence risk and the role of model organisms in understanding the molecular mechanisms of SRS pathology, treatment, and management strategies of the affected patients through the analysis of selected literature.
RESULTS
156 articles were selected to understand the clinical and molecular heterogeneity of SRS. Information about detailed clinical features was available for 228 patients only, and it was observed that body asymmetry and relative macrocephaly were most prevalent in cases with methylation defects of the 11p15 region. In about 38% of cases, methylation defects in ICRs or genomic mutations at the 11p15 region have been implicated. Maternal uniparental disomy of chromosome 7 (mUPD7) accounts for about 7% of SRS cases, and rarely, uniparental disomy of other autosomes (11, 14, 16, and 20 chromosomes) has been documented. Mutation in half of the cases is yet to be identified. Studies involving mice as experimental animals have been helpful in understanding the underlying molecular mechanism. As the clinical presentation of the syndrome varies a lot, treatment needs to be individualized with multidisciplinary effort.
CONCLUSION
SRS is a clinically and genetically heterogeneous disorder, with most of the cases being implicated with a mutation in the 11p15 region and maternal disomy of chromosome 7. Recurrence risk varies according to the molecular subtype. Studies with mice as a model organism have been useful in understanding the underlying molecular mechanism leading to the characteristic clinical presentation of the syndrome. Management strategies often need to be individualized due to varied clinical presentations.
Topics: Humans; Animals; Mice; Mice, Inbred ICR; Silver-Russell Syndrome; Uniparental Disomy; Genomic Imprinting
PubMed: 35293298
DOI: 10.2174/1573396318666220315142542 -
Journal of Neurodevelopmental Disorders Jan 2022Phosphatase and tensin homologue (PTEN) is a cancer suppressor gene. Constitutional mutations affecting this gene are associated with several conditions, collectively... (Meta-Analysis)
Meta-Analysis Review
Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.
BACKGROUND
Phosphatase and tensin homologue (PTEN) is a cancer suppressor gene. Constitutional mutations affecting this gene are associated with several conditions, collectively termed PTEN hamartoma tumour syndromes (PHTS). In addition to hamartomas, PTEN aberrations have been associated with a range of non-tumoural phenotypes such as macrocephaly, and research indicates possibly increased rates of developmental delay and autism spectrum disorder (ASD) for people with germline mutations affecting PTEN.
METHOD
A systematic review of literature reporting behavioural and psychological variables for people with constitutional PTEN mutations/PHTS was conducted using four databases. Following in-depth screening, 25 articles met the inclusion criteria and were used in the review. Fourteen papers reported the proportion of people with PTEN mutations/PTHS meeting criteria for or having characteristics of ASD and were thus used in a pooled prevalence meta-analysis.
RESULTS
Meta-analysis using a random effects model estimated pooled prevalence of ASD characteristics at 25% (95% CI 16-33%), although this should be interpreted cautiously due to possible biases in existing literature. Intellectual disability and developmental delay (global, motor and speech and language) were also reported frequently. Emotional difficulties and impaired cognitive functioning in specific domains were noted but assessed/reported less frequently. Methods of assessment of psychological/behavioural factors varied widely (with retrospective examination of medical records common).
CONCLUSIONS
Existing research suggests approximately 25% of people with constitutional PTEN mutations may meet criteria for or have characteristics of ASD. Studies have also begun to establish a range of possible cognitive impairments in affected individuals, especially when ASD is also reported. However, further large-scale studies are needed to elucidate psychological/behavioural corollaries of this mutation, and how they may relate to physiological/physical characteristics.
Topics: Autism Spectrum Disorder; Germ-Line Mutation; Humans; Mutation; PTEN Phosphohydrolase; Prevalence; Retrospective Studies
PubMed: 34983360
DOI: 10.1186/s11689-021-09406-w -
Autism : the International Journal of... Apr 2021Neurological disorders, such as epilepsy and cerebral palsy, have been reported to occur among individuals with autism beyond chance and may have an impact on daily... (Meta-Analysis)
Meta-Analysis
Neurological disorders, such as epilepsy and cerebral palsy, have been reported to occur among individuals with autism beyond chance and may have an impact on daily living across the lifespan. Although there has been research investigating neurological disorders in autism, the findings are not always conclusive. Previous summaries of existing studies have not evaluated the full range of neurological disorders. This study aimed to comprehensively explore the neurological problems appearing in autism to provide updated information that is needed for better healthcare and support in this population. We looked at already published studies focusing on risk or frequency of neurological disorders in autism. Our results suggest that individuals with autism are more likely than the general population to have a range of neurological disorders, including epilepsy, macrocephaly, hydrocephalus, cerebral palsy, migraine/headache, and inborn abnormalities of the nervous system. In order to provide individualized healthcare and support of high quality to individuals diagnosed with autism, health care professionals and other support providers need to be attentive to neurological complications. To further improve our understanding about the link between autism and neurological disorders, future research should follow the neurological health of children who are diagnosed with or are at increased likelihood of autism.
Topics: Autism Spectrum Disorder; Autistic Disorder; Child; Epilepsy; Humans
PubMed: 32907344
DOI: 10.1177/1362361320951370 -
Medical Journal of the Islamic Republic... 2019Autism Spectrum Disorder (ASD) is a neurological disorder characterized by massive damage in various fields of development. Impaired social interaction and...
Autism Spectrum Disorder (ASD) is a neurological disorder characterized by massive damage in various fields of development. Impaired social interaction and communication skills, unusual behavior or interests, and repetitive activities are considerably disabling in these patients. There are several challenges in diagnosis of ASD patients such as co-existing epilepsy, difference in clinician attitudes and possibly multifactorial etiology of autistic behavior among children and adults. Research in recent years has emphasized a possible connection between mutations in and macrocephaly (head circumference > 97th centile). Articles in English Language were searched from international databases including Medline (PubMed), Google Scholar, Scopus, and CINHAL from January 1998 to January 2016. The results showed that among 2940 patients with behavioral disorders, 2755 individuals had ASD, and 35 cases with macrocephaly had mutations in . About 77% of the articles (7/9) analyzed mutations in in patients with head circumference more than 2SD away from the mean, but did not check mutations in this gene in other ASD patients without macrocephaly. To the best of our knowledge, this study is the first systematic review on human mutations and classical autistic behavior. We conclude that the presence of macrocephaly may not be sufficient to examine the mutation in this group; however, surveying this gene in all cases of macrocephaly seems to be necessary.
PubMed: 31086789
DOI: 10.34171/mjiri.33.10 -
Child's Nervous System : ChNS :... Jul 2019Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes...
PURPOSE
Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). CDI is known to occur in midline congenital malformations such as holoprosencephaly and septo-optic dysplasia, but its association with hydranencephaly is less well-established.
METHODS
We reported two cases of hydranencephaly complicated by CDI. We also performed a systematic review of the SCOPUS and PubMed databases for case reports and case series of patients with hydranencephaly and CDI, and compiled data on the clinical features and treatment options.
RESULTS
Seven cases of hydranencephaly complicated by CDI were identified from the systematic review in addition to the two cases reported here, resulting in a total of nine cases. The patients' age ranged from 4 days to 4 years, and there was a female sex predilection (3.5:1). Patients most commonly presented with macrocephaly, developmental delay, and seizures, with dysmorphic features noted in 33%. In addition to CDI, other endocrinologic derangements included hypothyroidism (22%), hypocortisolemia (22%), and panhypopituitarism (22%). CDI was treated using sublingual or oral desmopressin while hypopituitarism was treated with the appropriate hormone replacement therapy. Insertion of a ventriculoperitoneal (VP) shunt was reported in 44% of cases.
CONCLUSION
The case reports and systematic review suggest a previously unknown association between hydranencephaly and CDI. Clinicians managing cases of hydranencephaly are advised to have a high index of suspicion for CDI in patients presenting with the characteristic signs and symptoms.
Topics: Diabetes Insipidus, Neurogenic; Female; Humans; Hydranencephaly; Infant; Tomography, X-Ray Computed; Treatment Outcome; Ventriculoperitoneal Shunt
PubMed: 30929071
DOI: 10.1007/s00381-019-04137-9