Calcification Of Falx Cerebri Research Articles

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families

Introduction: Gorlin syndrome is a rare, autosomal dominant multi-systemic disorder with a predisposition to the development of cancers such as medulloblastoma and nevoid basal cell carcinoma. Heterozygous pathogenic variants in PTCH1 are responsible for 90% of Gorlin syndrome cases. Pathogenic variants in PTCH1 cause overstimulation of the sonic hedgehog signaling pathway, which plays a role in the development of embryonic structures and tumorigenesis. Clinical major and minor diagnostic criteria for Gorlin syndrome have been determined. Odontogenic keratocyst (OKC) is the most common reason for medical admission in Gorlin syndrome. In this article, it is aimed to draw attention to the fact that patients with Gorlin syndrome are not very rare in our country and the variability in phenotypic and dysmorphic findings may be a clue for the diagnosis. Methods: Exome sequencing was performed on the Illumina NextSeq550 System platform by using the Ion Ampliseq exome RDY kit for Illumina. Sanger sequencing was performed accordingly for the other affected individuals in both families. Results: In this study, the clinical and molecular findings of 9 Gorlin syndrome patients from three unrelated families are presented. Macrocephaly, calcification of falx cerebri, palmar-plantar pits, rib anomalies, and OKC were detected in decreasing order in more than half of the patients. A novel heterozygous frameshift PTCH1 variant in family 1, a nonsense previously reported PTCH1 variant in family 2, and a novel heterozygous splice-site PTCH1 variant in family 3 were detected. Conclusion: Gorlin syndrome should be kept in mind in patients presenting with macrocephaly, palmoplantar pits, and OKC history. Careful examination of all family members is essential in the timely diagnosis of other affected individuals with minor phenotypic findings.

Intracranial physiological calcifications: A computed tomography study

AbstractBackground and aimIntracranial calcifications (ICs) occur when metals such as calcium or iron accumulate in blood vessels, glands or other structures related to the brain. They can be physiological or pathological. Currently, the most sensitive method for imaging IC is cranial computed tomography (CT). The aim of this retrospective study was to evaluate physiological ICs and the co-existence of them by CT.Patients and methods1,000 cranial CT scans of patients were retrospectively evaluated. Pineal calcification, choroid plexus calcification, habenular calcification, petroclinoid ligament calcification, basal ganglia calcification, falx cerebri and tentorium cerebelli calcification were evaluated and recorded.ResultsOf 1,000 patients, 65.7% had IC. The incidence of ICs in different sites were as follows: pineal calcification (37.7%), choroid plexus calcification (52.1%), habenular calcification (33.5%), petroclinoid calcification (21.8%), basal ganglia calcification (0.6%), falx cerebri calcification (6.2%) and tentorium cerebelli calcification (0.2%). The incidence and co-existence of calcifications were significantly higher in females than in males (P < 0.05). Pineal, choroid plexus, petroclinoid ligament calcifications were significantly higher in females than in males (P < 0.05). The incidence and co-existence of calcifications increased with age. Tentorium Cerebelli calcification did not differ significantly between age groups (P > 0.05).ConclusionsICs may be a common finding and encountered incidentally on CT scans which is gold standard to evaluate them. It is important to distinguish physiological calcifications from pathological ones, in the differentiation of pathological lesions with calcifications.

Teaching Neuro Images : Clinical and neuroimaging features in Gorlin-Goltz syndrome

An 18-year-old man presented with neuropsychomotor development delay since birth associated with multiple nevi and basal cell carcinomas (BCCs), which appeared in the third year of life (figure 1). Family history was unremarkable. Brain CT showed tentorium and falx cerebri calcification, associated with sphenoid hypoplasia (figure 2). Brain MRI disclosed a jaw odontogenic cyst (figure 2). Gorlin-Goltz syndrome (GGS) was diagnosed based on clinical and neuroimaging features.

Presentation and management of syndromic and non-syndromic patients with multiple odontogenic keratocysts

ObjectiveThis case series reports the clinical presentation and management of multiple odontogenic keratocysts (OKCs) in patients with Gorlin Goltz syndrome and in non-syndromic patients. Material and methodsEight patients presented with features of multiple odontogenic keratocyst at department of Oral and Maxillofacial Surgery. The diagnosis was confirmed following clinical, radiographic and histopathological examination. Initially the diagnosis of OKC was confirmed on an incisional biopsy. Major and minor criteria were followed for the diagnosis of Gorlin Goltz syndrome. Smaller cysts in all patients were enucleated and for larger cysts marsupialization was planned either alone or followed by enucleation. Patients were followed at 1 month, 3 months, 6 months and yearly interval to check for bone healing and recurrences. ResultsAssociation of Gorlin Goltz syndrome was identified in four patients all of whom were males with age range of 12–37 years. Among four patients that had non-syndromic OKCs, three were female and one was male with age range of 09–50 years; two patients had familial non-syndromic multiple OKCs. In syndromic patients, multiple OKCs, recognized manifestations of Gorlin Goltz syndrome were identified with variable frequency: calcification of falx cerebri and chest deformity (100%); macrocephaly with frontal bossing (100%); hypertelorism (75%); basal cell carcinoma (25%); pectus deformity with flame shaped hands and feet (25%) and syndactyly (50%). Palmar or plantar pits, cleft lip or palate, ovarian fibroma and medulloblastoma was not identified in any patient. In patients with non-syndromic multiple OKCs mandible was more commonly involved than maxilla. ConclusionPatients with multiple OKCs, should be evaluated thoroughly and basal cell carcinomatous lesions should be ruled out. Meticulous follow up is vital as Gorlin Goltz syndrome is associated with malignancies and OKCs may be the first manifestation of this syndrome. Given the fact that OKCs associated with this syndrome have higher rate of recurrence than the isolated OKCs, long term follow up is warranted.

1537 Squamous Cell Carcinoma Arising in A Maxillary Odontogenic Keratocyst in Gorlin Goltz Syndrome - A Rare Case Report

Abstract Introduction Gorlin Goltz syndrome (GGS) is a rare, hereditary, AD condition with multiple BCCs, odontogenic keratocysts (Jaw cysts), calcification of falx cerebri, skeletal anomalies & a predisposition to neoplasms like medulloblastomas, fibromas and rhabdomyosarcomas. Aim We present a rare case of a Squamous cell carcinoma (SCC) developing in a Maxillary odontogenic keratocyst in a 32-year male with GGS. Discussion This patient was referred to the OMFS unit with a non-healing UL3 extraction socket and exophytic growth. Initial biopsies suggested an atypical squamo-proliferative lesion, however a repeat biopsy demonstrated an invasive SCC arising from a background odontogenic keratocyst of the maxilla. He was initially reluctant to undergo a staging CT scan to avoid risks of developing further BCCs due to IR exposure. This was eventually performed as per H&N MDT recommendation & showed a T4aN0M0 SCC of the left maxilla and bilateral multiple mandibular odontogenic keratocysts. He underwent a left maxillectomy, left neck dissection & reconstruction with a DCIA free flap, but did not want his mandibular keratocysts treated at the same time. Complete tumour clearance was achieved with no involved neck nodes & he remains disease-free at 4 months postoperatively. Although for a T4 tumour he would have needed postoperative radiotherapy, in view of the GGS, no adjuvant treatment was indicated. Conclusions SCC developing in a maxillary OKC is exceedingly rare with only two previous cases reported in GG syndrome. This is the first reported case of a GGS patient with oral SCC undergoing a complex free flap reconstruction.

Calcification of Falx Cerebri between Male and Female Patients: A Comparative Study

Objectives: The aim of this paper is to study the calcification that occurs in the inter−hemispheric fissure to compare between male and female patients. Materials and Methods: The level of density and size of these calcifications were collected and analyzed in 30 patients randomly. Results: The result of this study showed that there is a relation between falx cerebri and gender since its more common in female patients. The density of the calcifications is higher in males and the calcifications are longer on the AP axis, while the falx cerebri calcifications are wider in the coronal axis in females. Conclusion: There is a relation between Calcification of falx cerebri and gender.

A Novel PTCH1 Frameshift Mutation Leading to First Case of Gorlin-Goltz Syndrome with Bilateral Pneumothorax

Objective: Gorlin-Goltz syndrome is a rare autosomal dominant inherited syndrome, also known as “basal cell nevus syndrome’’. This rare disorder is caused by mutation in the patched tumor suppressor gene PTCH and located in chromosome 9q22.3q31, which functions as a component of the Hedgehog signaling pathway. It is characterized by multiple basal cell carcinomas, jaw keratocysts, falx cerebri calcification and skeletal anomalies. The syndrome was first described by Gorlin and Goltz in 1960, and has a wide clinical spectrum including ophthalmological, neurological, endocrine and genital pathologies, internal malignancies and mental retardation. Methods: A 22-year-old male patient presented with a left-side spontaneous pneumothorax. After tube thoracostomy, prolonged air leak developed, and computed tomography was performed because of bullous lung. A patient with Gorlin-Goltz syndrome who developed spontaneous pneumothorax in the contralateral lung during clinical follow-up and underwent surgery is presented. The treatment and follow-up of this case are discussed in the light of literature. Results: The NGS analysis results were compatible with the diagnosis of NBCCS (Gorlin-Goltz), and a novel heterozygous frameshift mutation c.1659delC(pS554Afs*11) (pSer554Alafs Ter11) in the PTCH1 gene causing a premature stop codon. The case was evaluated as pathogenic with high probability according to ACMG criteria. Conclusion: This case report; describes for the first time a patient with NBCCS or Gorlin-Goltz Syndrome with basal cell carcinoma caused by a heterozygous frameshift mutation in exon 10 of the PTCH1 gene and was considered highly likely pathogenic according to the ACMG criteria. Therefore, our case; it is important because it is the first presented frameschift mutation in the world, which belongs to Gorlin-Goltz Syndrome.

Imaging in Gorlin–Goltz Syndrome with Emphasis on Diffusion-Weighted Imaging

Nevoid basal cell carcinoma syndrome is a hereditary condition associated with a wide range of developmental anomalies as well as increased risk of certain neoplasms. It is more commonly known as Gorlin–Goltz syndrome (GGS). We report a case of GGS with classic clinical and imaging findings of multiple odontogenic keratocysts (OKCs) in the jaw, calcification of falx cerebri, and bifid ribs. The findings of restricted diffusion within OKCs on diffusion-weighted imaging are also described.

In Situ Melanoma in Collision With a Basal Cell Carcinoma in a Patient With Basal Cell Nevus Syndrome: Clinical and Dermoscopic Features.

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominantly inherited disorder characterized by the development of basal cell carcinomas (BCCs) from a young age, multiple keratocysts, palmar and/or plantar pits, calcification of falx cerebri, and family aggregations. Other criteria are skeletal anomalies, frontal bossing, cardiac and ovarian fibromas, medulloblastoma, glaucoma, and cleft lip/palate. The disorder is caused by an alteration of the sonic hedgehog signaling pathway, which results in constitutive activity and tumor cell proliferation. Some germline pathogenic variants of these genes, including PTCH1 and SUFU, have been found and are responsible for clinical heterogeneity. Only 2 case reports have described the occurrence of melanoma in patients with BCNS, but neither reported the occurrence of collision lesions [1,2]. Here we present clinical, dermoscopic, and histological features of a collision tumor of BCC and in situ melanoma in a patient with multiple BCCs and BCNS.

Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.

BackgroundNevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with variable expression and nearly complete penetrance. PTCH1 is the major susceptibility locus and has no known hot spots or genotype–phenotype relationships.MethodsWe evaluated 18 NBCCS National Cancer Institute (NCI) families plus PTCH1 data on 333 NBCCS disease‐causing mutations (DM) reported in the Human Gene Mutation Database (HGMD). National Cancer Institute families underwent comprehensive genomic evaluation, and clinical data were extracted from NCI and HGMD cases. Genotype–phenotype relationships were analyzed using Fisher's exact tests focusing on mutation type and PTCH1 domains.Results PTCH1 pathogenic mutations were identified in 16 of 18 NCI families, including three previously mutation‐negative families. PTCH1 mutations were spread across the gene with no hot spot. After adjustment for multiple tests, a statistically significant genotype–phenotype association was observed for developmental delay and gross deletion–insertions (p = 9.0 × 10−6), and suggestive associations between falx cerebri calcification and all transmembrane domains (p = 0.002) and severe outcomes and gross deletion–insertions (p = 4.0 × 10−4).ConclusionOverall, 89% of our NCI families had a pathogenic PTCH1 mutation. The identification of PTCH1 mutations in previously mutation‐negative families underscores the importance of repeated testing when new technologies become available. Additional clinical information linked to mutation databases would enhance follow‐up and future studies of genotype–phenotype relationships.

Teaching Neuro Images : Clinical and neuroimaging features in Gorlin-Goltz syndrome

An 18-year-old man presented with neuropsychomotor development delay since birth associated with multiple nevi and basal cell carcinomas (BCCs), which appeared in the third year of life (figure 1). Family history was unremarkable. Brain CT showed tentorium and falx cerebri calcification, associated with sphenoid hypoplasia (figure 2). Brain MRI disclosed a jaw odontogenic cyst (figure 2). Gorlin-Goltz syndrome (GGS) was diagnosed based on clinical and neuroimaging features.

GORLIN GOLTZ SYNDROME: A CASE REPORT

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, being due to a genetic alteration which produced by mutation in the “Patched” tumor suppressor gene, and it is inherited in an autosomal dominant way. This syndrome is about multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, odontogenic keratocysts in the jaws, palmar and/or plantar pits and calcification of falx cerebri. Together with these major features a great number of processes considered as minor features have also been described which include numerous skeletal, dermatological and neurological anomalies among others. Due to the importance of oral and maxillofacial manifestations of this syndrome, it is fundamental to know its characteristic in order to make a diagnosis, an early preventive treatment and establish right genetic advice.

Gorlin-Goltz syndrome: A rare case report

Gorlin-Goltz syndrome (GGS) is a rare genetic disease that is transmitted as an autosomal-dominant trait showing high level of penetrance and varying expressivity affecting multiple systems of the body. Characteristic clinical manifestations include the presence of multiple basal cell carcinomas, odontogenic keratocysts of the jaws, palmar/plantar pits and calcification of falx cerebri. Early diagnosis of GGS is of great importance due to susceptibility of affected individuals to multiple neoplasms of skin and brain (medulloblastoma) in an early age; life expectancy in GGS is not significantly altered, but morbidity from complications can be substantial. Dentist plays a crucial role in early diagnosis, which prevents recurrence and provides better survival rates from the existent diseases.We are reporting a rare case of GGS in a 14-year-old girl who visited our institution with characteristic clinical, radiological and histological features.

Computed tomographic features of the feline brain change with advancing age?

Abstract: A better understanding of normal or expected encephalic changes with increasing age in cats is needed as a growing number of these animals is attended in veterinary clinics, and imaging data referring to normal age-associated changes are extremely scarce in the literature. The objective of this study was to identify age-related changes in feline brain using CT imaging. Fifteen non-brachycephalic healthy cats with age between 1 to 6 years (adult group) and others over 12 years (geriatric group) were submitted to CT scan of the brain. Statistically significant differences were found between the groups for the ability to identify the left lateral ventricle and for falx cerebri calcification, both identified in a greater number of cats of the geriatric group. A significantly higher mean width of the third ventricle was also detected in geriatric animals. There were no statistically significant differences between lateral ventricular dimensions and encephalic parenchymal attenuation on pre and post-contrast CT phases. The results of the present study show an increase in the incidence of falx cerebri calcification and a third ventricular dilatation with advancing age in cats. Future researches using MRI scanners and a greater quantity of cats are needed in order to identify supplementary age-related changes.

Gorlin-Goltz Syndrome - A Rare Cause of Recurrent Jaw Pain in a Young Child

Gorlin-Goltz syndrome is an infrequent multisystem disease. At least two major criteria or one major and two minor criteria must be present to make the diagnosis. However, the most important criteria are the presence of basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcification of falx cerebri. It is necessary to identify the syndrome early due to its predisposition to cancer. An early diagnosis can be made using a multi-disciplinary approach. We report a rare case of an 11-year-old boy with this syndrome with an additional unusual finding of gynaecomastia.

Falcine calcification in neurocysticercosis

Neurocysticercosis is common in children but calcification of falx cerebri is extremely rare. We report a 5-year-old male child with falcine calcification, who was diagnosed as neurocysticercosis based on clinical, epidemiological, serological and imaging findings. The child was treated with albendazole and carbamazepine and seizure free for last 2 years.

Gorlin-Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature.

Objective:In Indian scenario, Gorlin–Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome.Materials and Methods:The diagnostic findings of Gorlin–Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world.Results:The most common features seen were keratocystic odontogenic tumors (100%), calcifications of falx cerebri (60%), palmar-plantar pits (80%), rib anomalies (80%), macroencephaly (60%), ocular hypertelorism (80%), and frontal bossing (60%) in our series. Retained deciduous teeth seen in 80% patients whose association has not been previously reported has been presented. None of our patients had basal cell carcinoma, syndactyly or polydactyly, pectus deformity, bridging of sella turcica, pigmented nevi, or family history of this syndrome in contrast to such findings in other Indian patients. Medulloblastoma has not been reported in any Indian patient so far compared to this finding in other studies conducted worldwide.Conclusions:Combining the features of 48 patients in 38 cases of NBCCS being published in Indian literature with five cases of our series and on comparison with other studies in the world, a wide disparity in different ethnic groups and a wide variation in presentation of syndrome within the same population is suggested.

Chapter 8 - Basal cell nevus syndrome or Gorlin syndrome

Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

Gorlin-goltz syndrome: a rare case.

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Gorlin-Goltz Syndrome

Gorlin-Goltz syndrome is an autosomal dominant disorder showing multiple organ involvement. The syndrome consists principally of nevoid basal cell carcinomas, keratocystic odontogenic tumors (KCOT), skeletal anomalies and intracranial calcifications. A case report of a 25-year-old female patient emphasizing its clinical and radiographic manifestations is presented in this article. Radiographs and computed tomography showed recurrent, multilocular and expansile lesions, which were examined histologically, confirming the diagnosis of KCOT. Skin lesions in the form of palmar pits and solitary pigmented nevi were seen. The sella turcica was bridged and the right fifth rib was bifid. The bilamellar falx cerebri calcification was confirmed on computed tomography of brain. The patient was treated and explained about the prognosis.