Vismodegib in Gorlin-Goltz syndrome: A systematic review.

Treatment with Hedgehog Inhibitors in Gorlin-Goltz syndrome (GGS) yields favourable objective clinical responses, yet secondary resistance and class-related toxicity restrict treatment duration. This study aims to review current data on GGS patients undergoing vismodegib therapy, focusing on treatment duration, clinical outcomes and schedule modifications. A systematic search of the PubMed database was conducted for English articles from 1993 to 2023, identifying 31 papers suitable for inclusion. A total of 351 patients, with a mean age of 52 years, were analysed. The average treatment duration was 9.3 months for patients who discontinued treatment, and 25.1 months for those who continued vismodegib at the time this study was published. Vismodegib achieved a complete response rate of 44%. Treatment interruption predominantly occurred due to side effects (69.1%) and secondary resistance (9.1%). The use of alternative regimens, although not compromising efficacy, may enhance treatment compliance. Further investigations are warranted to ascertain the optimal treatment regimen and timeline for GGS patients. Schedule modifications offer promise in ameliorating side effects and facilitating long-term treatment.

Aborted sudden cardiac death in a young patient with epilepsy and the Gorlin Goltz syndrome.

Epilepsy is one of the most common chronical neurological conditions affecting over 50 million people worldwide. In addition to the stigma and discrimination, individuals with epilepsy suffer from a nearly three-fold increased risk of premature death compared to the general population. Although these premature deaths occur due to multiple causes, sudden unexpected death in epilepsy (SUDEP) still challenges neurologists and clinicians dealing with individuals with epilepsy. Recently, an increased interest in cardiac outcomes related to acute seizures and chronic epilepsy resulted in the groundbreaking development of the "epileptic heart" concept, and sudden cardiac death in individuals with epilepsy, which is 4.5 times as frequent as SUDEP according to some observational data, has gained more attention. As we gather information and learn about possible comorbidities and consequences of seizures and/or chronic epilepsy, we present a clinical case of a young patient with an unusual association of epilepsy, the Gorlin Goltz syndrome, and a cardiac fibroma with Wolf-Parkinson-White (WPW), who had multiple aborted cardiac arrests. Diagnostic challenges and multiple possible causes of sudden cardiac death in this single patient report are discussed.

18F-FDG PET/CT findings in nevoid basal cell carcinoma syndrome: a systematic review and a new case report.

BACKGROUND: To demonstrate and analyze the 18F-FDG positron emission tomography/computed tomography (PET/CT) findings in this rare nevoid basal cell carcinoma syndrome (NBCCS). CASE PRESENTATION: A 71-year-old woman with the left invasive breast cancer was treated with hormone therapy for six months and underwent the 18F-FDG PET/CT examination for efficacy evaluation. 18F-FDG PET/CT revealed the improvement after treatment and other unexpected findings, including multiple nodules on the skin with 18F-FDG uptake, bone expansion of cystic lesions in the bilateral ribs, ectopic calcifications and dilated right ureter. She had no known family history. Then, the patient underwent surgical excision of the all skin nodules and the postoperative pathology were multiple basal cell carcinomas. Finally, the comprehensive diagnosis of NBCCS was made. The patient was still in follow-up. Additionally, we have summarized the reported cases (n = 3) with 18F-FDG PET/CT from the literature. CONCLUSIONS: It is important to recognize this syndrome on 18F-FDG PET/CT because of different diagnoses and therapeutic consequences.

Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome.

OBJECTIVE: To analyse the aetiology and pathogenesis of Gorlin-Goltz syndrome (GS; also known as nevoid basal cell carcinoma syndrome [NBCCS] or basal cell nevus syndrome [BCNS]) in a Chinese family. METHODS: Whole-exome sequencing (WES) was performed on genomic DNA samples from the subjects in a family, followed by the investigation of pathogenesis via bioinformatic approaches and conformational analysis. RESULTS: A novel heterozygous non-frameshift deletion patched 1 (PTCH1) [NM_000264: c.3512_3526del (p.1171_1176del)] was identified by WES and further validated by Sanger sequencing. Bioinformatic and conformational analysis showed that the mutation caused altered PTCH1 protein structure, which may be related to functional abnormalities. CONCLUSION: This study expands the mutation spectrum of PTCH1 in GS and facilitates the early diagnosis and screening of GS. PTCH1 [c.3512_3526del (p.1171_1176del)] may cause structural abnormalities and functional disabilities, leading to GS in families.

Gorlin-Goltz Syndrome: An Incidental Finding of a Rare Entity.

Gorlin-Goltz syndrome (GGS) is a rare hereditary disease characterized by multiple basal cell carcinomas, odontogenic keratocyst (OKCs) and musculoskeletal malformations. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and mutations in the human patched gene (PTCH1 gene). Here, we report a rare case of an incidental finding of GGS in an 18-year-old male patient presenting multiple OKCs, calcification of the falx cerebri, and bifid rib.

Recurrence Patterns of Odontogenic Keratocysts in Syndromic and Non-Syndromic Patients.

Purpose: Odontogenic keratocysts (OKCs) have high recurrence rates. We aimed to identify recurrence patterns in OKCs and the onset of second primary OKCs in non-syndromic and syndromic patients. Material and Methods: Patients with OKCs reporting to our department from 1998 to 2021 (23 years) were retrospectively evaluated using demographic, clinical (age, sex, location, and size), histopathological, radiographic, and treatment data. All patients were followed-up for > 3 years and evaluated for OKC recurrence. Patients with naevoid basal cell carcinoma syndrome (NBCCS) were evaluated separately. Results: We included 38 and 13 patients in the non-syndromic and syndromic OKC groups, respectively. The recurrence rates were 15.8 and 21.4% in the non-syndromic and syndromic groups, respectively; 8.9% of patients exhibited a second recurrence and 1.8% a third recurrence. No second primary OKCs were observed in the non-syndromic group; 76.9% of patients in the syndromic group developed at least one. Conclusion: We found a higher recurrence rate in patients with NBCCS compared with patients with non-syndromic OKCs (21.4 versus 15.8%). The probability of developing a second primary OKC in patients with NBCCS was higher compared with that in patients with non-syndromic OKCs (76.9 versus 0%). No statistically significant risk factors for OKC recurrence were identified.

Multiple dentigerous cysts in a patient showing features of Gorlin-Goltz syndrome: A case report.

INTRODUCTION AND IMPORTANCE: The association between Dentigerous cysts (DCs) and Gorlin-Goltz syndrome (GGS) was claimed theoretically in a very few reports, with very few clinical foundations. The aim of this report was to present a unique case of multiple DCs in the mandible in a patient showing features of GGS. CASE PRESENTATION: A 63-year-old male patient presented with multiple cyst-like lesions in the mandible associated with some clinical and radiological features of GGS, and that raised the suspension of odontogenic keratocyst (OKC). The patient underwent marsupialization and enucleation of these cysts, and the histopathological examination confirmed the diagnosis of DCs. CLINICAL DISCUSSION: In this report, the patient presented with symptoms related to multiple unilocular radiolucent lesions found in the mandible and the clinical and radiological features were highly suggestive of OKCs associated with GGS. However, the perioperative findings raised the suspicion of DCs, which was confirmed by histopathology. Interestingly, GGS is an inherited autosomal dominant disorder arising from mutations in the patched tumor suppressor gene (PTCH). Previous studies showed this gene alteration in DCs; this can possibly be implicated in the pathogenesis of the association found in this report. CONCLUSION: This report presented a case of bilateral DC in the mandible in a patient showing features of GGS. Therefore, this report verified the very rare association between DC and GGS. This may help dentists and physicians in reaching an accurate and early diagnosis of GGS.

Headache as the presenting manifestation of Gorlin-Goltz syndrome with diastematomyelia: A case report.

Gorlin-Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46-year-old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.

Gorlin-Goltz Syndrome: A Case Series.

Gorlin-Goltz syndrome (GGS) among Indians is rarely reported. Since 1960, only 38 cases having 48 patients of Gorlin-Goltz syndrome have been identified in the Indian population. It is crucial to diagnose this illness early because it can be connected to a malignant lesion like fibrosarcoma, leiomyosarcoma or rhabdomyosarcoma. The four patients in this case series were identified and treated in our department between 2019 and 2023. The average patient age was around 20 years old. Jaw swelling and tooth movement were the two most typical presenting concerns. Odontogenic keratocysts (100%), palmer pits (100%), plantar pits (50%), calcification of falx cerebri (50%), and rib abnormalities (50%), were the most prevalent characteristics. None of the patients had basal cell cancer, cleft lip, or medulloblastoma. Multiple odontogenic keratocysts were present in three cases, whereas a single odontogenic keratocyst (OKC) was seen in one patient. Patients were managed with either marsupialization or enucleation, depending on the size of the cyst. Two cases with a large cyst size were marsupialized by using a modified obturator. Two cases with small cysts were managed with enucleation of the cyst followed by chemical cauterization. Recurrence was seen in two cases. In one patient, we noticed the formation of a new cyst. A GGS diagnosis can be made by having a systemic evaluation of the patient. A thorough examination of the patient should be performed in every histopathology-diagnosed case of OKC. This will help to miss the syndromic cases. The treatment part should be conservative, like marsupialization with an obturator in a large cyst. The obturator helps maintain patient hygiene and prevents regular visits for changing dressings. Small-sized cysts can be managed with enucleation and chemical cauterization. Radical resection should be avoided.

Gorlin-Goltz Syndrome - A Concatenation of Six Case Reports.

Rationale: Gorlin-Goltz syndrome (GGS) has a wide range of expressivity, with a majority of cases being first diagnosed from the oral findings. Early intervention can reduce its severity. Patient Concerns: The primary complaints of all the patients were pain and swelling. Clinical examination with radiological and histopathological evaluation confirmed the diagnosis. Diagnosis: This series presents the six cases of GGS treated over a time frame of five years (2018-2022). Treatment: The treatments range from enucleation, chemical cauterisation and peripheral ostectomy to aggressive modalities such as resection and reconstruction. Outcomes: This series comprises of six patients with ages ranging from 12 to 42 years, four of which were female and two were male presenting minimal expression to highly aggressive forms and its unpredictable frequent manifestation. Take-Away Lessons: This emphasises the significance of long-term periodic follow-up and genetic screening for early detection, thereby reducing the intensity and aggressiveness of the disease.

Gorlin-Goltz Syndrome: A Case Report and Literature Review with PTCH1 Gene Sequencing.

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male who was admitted at our department for multiple brown-to-black papules and plaques on the entire body. He was diagnosed with Gorlin-Goltz syndrome with clinical, radiologic, and pathologic findings. While the diagnosis was made based on the clinical findings in general, confirmation of the genetic variants makes an ideal diagnosis and suggests a new treatment method for target therapy. We requested a genetic test of PTCH1 to ideally identify the molecular confirmation in the hedgehog signaling pathway. However, no pathogenic variants were found in the coding region of PTCH1, and no molecular confirmation was achieved.

Queratocisto odontogênico em maxila: relato de caso

Objetivo: Relatar o processo de diagnóstico e tratamento de um queratocisto odontogênico (QO) em seio maxilar e a sua importância na investigação e diagnóstico de Síndrome de Gorlin-Goltz (SGG). Relato de caso: Paciente do gênero feminino, 20 anos, apresentou-se no serviço de odontologia encaminhada pela equipe de genética médica para investigar a presença de QO para definição de diagnóstico de SGG. Foi realizada radiografia panorâmica e verificou-se a presença de alterações no trabeculado ósseo em tuberosidade maxilar do lado esquerdo. Por isso, foi solicitada a tomografia computadorizada de seios maxilares e encontrou-se uma lesão bem delimitada, ocupando quase completamente o seio maxilar esquerdo em íntimo contato com a raiz do dente 27. Portanto, foi realizada biópsia incisional da lesão, acompanhada da aspiração do conteúdo. Na aspiração foi obtido um conteúdo de característica caseosa sugestivo de queratina. O laudo histopatológico da lesão foi de cisto odontogênico. Com isso, foram realizados os procedimentos de exodontia do dente 27 e a enucleação da lesão em seio maxilar pela equipe da odontologia e da otorrinolaringologia, respectivamente, em centro cirúrgico. O laudo histopatológico confirmou a presença de QO, assim foi possível confirmar o diagnóstico da SGG pela equipe da genética médica. A paciente não apresentou sinais de recidiva e nem de novos QO após 2 anos do procedimento. Considerações finais: A SGG requer atenção odontológica especial, visto a alta taxa de QO nos pacientes com essa síndrome. Exame odontológico minucioso envolvendo exame clínico e exames radiográficos devem ser realizado nas consultas de seguimento.

Objective: To report the process of diagnosis and treatment of an odontogenic keratocyst (OK) in the maxillary sinus and its importance in the investigation and diagnosis of Gorlin-Goltz Syndrome (GGS). Case report: A 20-year-old female patient presented at the Dentistry and Stomatology service, referred by the Medical Genetics team to investigate the presence of OK to define the diagnosis of GGS. Panoramic radiography was performed and the presence of alterations in the bone trabeculae in the maxillary tuberosity on the left side was verified. For this reason, computed tomography of the maxillary sinuses was also requested and a well-defined lesion was found, occupying almost completely the left maxillary sinus in close contact with the root of tooth 27. Therefore, an incisional biopsy of the lesion was performed, accompanied by puncture of the same. In the puncture, a characteristic caseous content suggestive of keratin was obtained. The histopathological report of the lesion was described by the pathologist as an odontogenic cyst. With this, tooth extraction procedures for tooth 27 and enucleation of the lesion in the maxillary sinus were carried out by the dentistry and otorhinolaryngology teams, respectively, in a surgical center. The histopathological report confirmed the presence of OK, so it was possible to confirm the diagnosis of GGS by the medical genetics team. The patient showed no signs of recurrence or new OK after 2 years of the procedure. Final considerations: GGS requires special dental attention, given the high rate of OK in patients with this syndrome. A thorough dental examination involving clinical examination and radiographic examinations should be performed at follow-up visits.

Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature.

Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size of the tumor. Sixty-four percent of children with cardiac fibroma, the second most common benign cardiac tumor in children, have ventricular arrhythmias, affecting therapeutic management and risk profile of these children. We report on two siblings with cardiac fibromas whose clinical presentations differed depending on their locations and size of the tumors. The first child, a three-year-old girl, was diagnosed with a cardiac fibroma in the left ventricle at the age of 8 months after surviving resuscitation due to ventricular fibrillation. Secondary prophylactic implantation of an ICD was performed. On propranolol, no further malignant arrhythmias have occurred to date. The seven-month-old brother was diagnosed postnatally with a cardiac tumor adjacent to the right ventricle. A few weeks after birth, the boy had refractory supraventricular tachycardia and ventricular arrhythmia that only resolved with amiodarone. In genetic testing, Gorlin-Goltz syndrome was diagnosed in both children. Conservative pharmacological therapy is a therapeutic strategy for asymptomatic patients with cardiac fibromas. The anti-arrhythmic medication depends on the location of the tumor. Implantation of an ICD should be performed in cases of malignant arrhythmias. In rare cases, there is an association between cardiac tumors and genetic syndromes, such as Gorlin-Goltz syndrome. These should always be considered when such a tumor is diagnosed.

18F-FDG PET/CT and Whole-Body Bone Scan Findings in Gorlin-Goltz Syndrome.

Gorlin-Goltz syndrome (basal cell nevus syndromes) is an uncommon, autosomal dominant inherited disorder characterized by developing basal cell carcinomas from a young age. Other distinct clinical features include keratocystic odontogenic tumors, dyskeratotic palmar and plantar pitting, and skeletal abnormalities. Clinicopathological findings of the syndrome are very diverse, and many symptoms manifest during a certain period of life. We present the compelling whole-body bone scan and 18F-FDG PET/CT findings in a 32-year-old man with odontogenic keratocyst, early-onset basal cell carcinoma, multiple ectopic calcifications in extremities, calcified falx cerebri, spinal scoliosis, macrocephaly, and ocular hypertelorism.

Ventricular fibrillation and arrhythmia associated with cardiac fibromas involving both ventricles in a 1.5-year-old girl.

This article reports the autopsy findings of a 1.5-year-old girl with no history of previous hospital admission who suddenly collapsed at home. After 45 minutes of resuscitation efforts, the cardiac activity was restored. During hospitalization, she had ventricular arrhythmia and extremely elevated cardiac troponin levels. Internal examination and immunohistochemistry revealed cardiac fibromas of the right and left ventricles and extensive hypoxic myocardial damage. The right ventricular fibroma demonstrated interdigitating and entrapped myocardium visible at the edges and within the central portion of the tumor. The left ventricular fibroma originated in the subepicardial region and propagated towards the endocardium.

Comparative Molecular Genetics of Odontogenic Keratocysts in Sporadic and Syndromic Patients.

Odontogenic keratocysts (OKCs) are common cysts of odontogenic origin that usually occur as a single nonsyndromic cyst in isolation (sporadic) or as syndromic multiple cysts as a manifestation of naevoid basal cell carcinoma syndrome. Alterations involving the PTCH gene are the most commonly identified factor associated with up to 85% and 84% of naevoid basal cell carcinoma syndrome and sporadic cases, respectively. Other Hedgehog pathway and non-Hedgehog pathway-associated genes have been implicated in the pathogenesis of OKCs. This pilot study used the Affymetrix OncoScan molecular assay to perform a comparative genomic analysis between 4 sporadic and 3 syndromic cases of OKC to identify molecular drivers that may be common and/or distinct in these 2 groups. The majority of alterations detected in both groups were copy number neutral loss of heterozygosity. Despite distinct molecular signatures observed in both groups, copy number neutral loss of heterozygosity alterations involving chromosome 9q affecting not only PTCH but also the NOTCH1 gene were detected in all syndromic and 3 sporadic cases. Loss of heterozygosity alterations involving 16p11.2 affecting genes not previously described in OKCs were also detected in all syndromic and 3 sporadic cases. Furthermore, alterations on 22q11.23 and 10q22.1 were also detected in both groups. Of note, alterations on 1p13.3, 2q22.1, and 6p21.33 detected in sporadic cases were absent in all syndromic cases. This study demonstrates that a more common group of genes may be affected in both groups of OKCs, whereas other alterations may be useful in distinguishing sporadic from syndromic cysts. These findings should be validated in larger OKC cohorts to improve molecular diagnosis and subsequent patient management.

Vismodegib in Locally Advanced Basal Cell Carcinoma in Slovenia.

BACKGROUND: Vismodegib is a first-in-class inhibitor of the hedgehog pathway for treatment of locally advanced basal cell carcinoma (laBCC) and metastatic BCC. OBJECTIVES: The purpose of this study is to report outcomes of patients with laBCC, with basal cell carcinoma nevus syndrome (Gorlin Goltz syndrome [G-G Syn]) treated with vismodegib in routine clinical practice in Slovenia in 8.3-year period. METHODS: In this retrospective cohort study, we analyzed baseline characteristics, outcomes, and treatment-related adverse events from locally advanced BCC. The patients were divided into two cohorts: 39 laBCC or multiple BCC patients and 7 patients with G-G Syn who were treated with vismodegib from November 2012 till January 2021. RESULTS: During 100-month period, 46 patients were diagnosed with laBCC (26), multiple BCC (13), and G-G Syn (7), all inappropriate for surgery or radiotherapy. Baseline characteristics: median age was 72.8 years in laBCC + multiple BCC cohort and 47.4 years in G-G Syn cohort. The objective response rate was 80% in laBCC + multiple BCC and 86% in G-G Syn cohort. Disease control rate (DCR) was 95% in laBCC + multiple BCC and 100% in G-G Syn cohort. Median duration of treatment was 9.9 months (range: 1.5-43.1) in laBCC and multiple BCC cohort and 19.5 months (range: 3.6-94.1) in G-G Syn cohort. Majority of treatment-emergent adverse events (TEAEs) in laBCC or multiple BCC cohort were grade 1 or 2 (96%), only 4% of AEs were grade 3. Majority of TEAEs in G-G Syn cohort were also grade 1 or 2 (87%), 13% of AEs were grade 3. No grade 4 or 5 vismodegib-related AEs were reported. CONCLUSION: Vismodegib has shown meaningful efficacy with DCR from 95% to 100% in patients with laBCC, multiple BCC, and G-G Syn in Slovenia. TEAEs were successfully alleviated with multidisciplinary approach and early supportive care.

Gorlin-Goltz Syndrome: Report of a Rare Case with an Update on the Review of the Literature.

Keratocyst is a developmental odontogenic cyst arising from remnants/rests of the dental lamina with biologic behavior similar to benign neoplasm. The presence of multiple odontogenic keratocysts is rare and seen in Gorlin-Goltz syndrome (GGS). GGS syndrome presents with multisystem involvement and the classical triad of multiple basocellular epitheliomas, keratocysts in the jaws, and bifid ribs; that characterize the diagnosis of this syndrome. Multiple odontogenic keratocyst are the most consistent features of the syndrome in 65%-100% of affected individuals and are generally diagnosed at a very early age. Early diagnosis and proper counseling of the parent and patient might help to reduce the morbidity, encourage follow-up for timely treatment, and help in avoiding ionizing radiation that would lead to the development of malignancies.

Dental Screening Including Panoramic Radiograph for Gorlin-Goltz Syndrome in Patients With Multiple Basal Cell Carcinomas.

PURPOSE: To answer the following clinical research question: "Among patients with multiple basal cell carcinomas (mBCCs), can panoramic radiograph (PaR) facilitate the diagnosis of Gorlin-Goltz syndrome (GGS)?" METHODS: This retrospective study enrolled mBCCs subjects who presented to a German tertiary care center between 1 January 2015 and 31 December 2021. The primary predictor was presence of syndromic mBCCs, and the main outcomes were jaw cysts and odontogenic keratocysts (OKCs). Descriptive, bi- and multivariate statistics, diagnostic test evaluation, and number needed to screen (NNS) were computed at α = 95%. RESULTS: The sample comprised 527 mBCCs patients (36.1% females; 6.8% GGS; 5.5% OKCs; mean age, 74.5 ± 15.8 years [range, 15-102]). There was a significant association between syndromic mBCCs and jaw cysts (P < .0001; NNS = 2 [95% CI, CI, 1.1 to 1.4]). In the adjusted logistic model, PaR identified GGS via radiographic diagnosis of jaw cysts in case of 1) age ≤ 35 years, 2) ≥ 5 BCCs, and 3) ≥ 1 high-risk BCCs. Nearly every jaw cyst identified by PaR was OKCs (P = .01; 95% CI, 3.1 to 3,101.4; NNS = 1.3 [95% CI, .9 to 2]). The post hoc power was 100%. CONCLUSIONS: Dental screening with the use of PaR for mBCCs patients, especially those aged ≤35 years, or with ≥5 BCCs, or ≥1 high-risk BCCs, may be helpful in detection and identification of GGS through recognition of OKCs.

Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.

Background: Congenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by SUFU mutation. Clinical presentation: Medulloblastoma was detected in two brothers at 2 and 3 months of age, with very similar imaging features. Genetic testing revealed that both children and their mother carried SUFU gene germline mutations, and both brothers were diagnosed with Gorlin-Goltz syndrome. Conclusion: Gorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce.