Skip to main content
Download PDF

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review

BMC Pediatrics volume 25, Article number: 253 (2025) Cite this article

Abstract

Background

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However, the association between CREBBP variants and an increased risk of tumors remains unknown, despite multiple reports of tumor comorbidities related to RSTS. The aim of this study is to elucidate the tumors associated with CREBBP variants in the context of RSTS by presenting a case of ganglioneuroblastoma (GNB) in a patient diagnosed with RSTS.

Case presentation

We describe a 9-month-old male patient exhibiting distinctive facial features, enorchia, and GDD. Whole exome sequencing (WES) revealed a de novo pathogenic variant in NM_004380 (CREBBP): c.1068del (p.Gln356Hisfs*33). At one year of age, the patient experienced an unexplained fever lasting for two months, and the definitive diagnosis of GNB was established.

Conclusions

We report a case of RSTS co-morbid with GNB and conduct phenotypic and genotypic analyses of 43 individuals with documented CREBBP variants and associated tumors in the literature. We observed that frameshift variations are common in malignancies among the individuals studied, while more microdeletions were noted in patients with benign tumors. Currently, there is insufficient evidence to support a correlation between the types of CREBBP variants and specific tumor types. Further research is required to clarify the role of CREBBP variants in tumorigenesis.

Peer Review reports

Introduction

Rubinstein-Taybi syndrome (RSTS [OMIM# 180849]) is a rare group of syndromes characterized by intellectual disability, slow growth, short stature, distinctive facial features (such as a grimacing smile), and broad, often angulated thumbs and halluces. The estimated birth prevalence of RSTS in the Netherlands is between 1 in 100,000 and 125,000 [1]. Loss-of-function variants in CREBBP (MIM # 600140) and EP300 (MIM # 602077) have been associated with RSTS. Pathogenic variants in CREBBP affect approximately 50–60% of RSTS patients, while EP300 pathogenic variants affect about 8–10% of individuals [2]. As our understanding of RSTS deepens, individuals of co-morbid tumors have been increasingly documented [3, 4]. Previous researchs have found RSTS co-morbidities tumors are observed in 5–30% of patients, such as neuroblastoma, rhabdomyosarcoma, medulloblastoma, and hematologic malignancies were reported [3,4,5,6]. However, reports of co-morbid tumors in RSTS individuals from China have not yet been documented. In this study, we present a case of a 1-year-old male with RSTS co-morbidities and GNB, and we compare this case with 43 other reported individuals with RSTS and co-morbid tumors. This study aims to provide insights for further establishing the association between RSTS patients and tumors.

Clinical information

A 9-month-old male child was admitted to our hospital due to global developmental delay. At 32 weeks of gestation, ultrasound revealed slow growth of the fetal head circumference. The pregnant woman did not receive further prenatal diagnostic counseling. The child was delivered via cesarean section at 38 weeks, with no asphyxia. Following birth, the child experienced difficulties with feeding and recurrent spitting up. The past medical history includes three episodes of pneumonia, bilateral cryptorchidism, and gastroesophageal reflux. His parents are healthy, non-consanguineous, and have previously given birth to two healthy females. Physical examination revealed a head circumference of 41.5 cm (< 3rd percentile), a length of 65 cm (< 3rd percentile), and a weight of 7.9 kg (< 10th percentile). Other physical characteristics included dense hair, hypertelorism, narrow palpebral fissures, downslanting eyes, a wide nasal bridge, anteriorly tilted nostrils, a high arched palate, a thin upper lip with upturned corners of the mouth, a small pointed jaw, broad thumbs, and hypotonia. The child could hold his head up, engage in social vocalization, and maintain eye contact, but could not roll over or sit without support. The Gesell Developmental Diagnosis Scale (GDDS; Chinese version) was utilized to assess various developmental areas of this child, including gross motor skills, fine motor skills, language, and social-emotional responses. The child’s performance across all developmental areas yielded a developmental quotient (DQ) below 75. The developmental age of the infant was assessed at 3.2 months, with a Gesell developmental schedule DQ of 34. Based on the Chinese guidelines for diagnosing global developmental delay, this patient was diagnosed with GDD [7]. Magnetic resonance imaging (MRI) showed no abnormalities. Laboratory tests, including blood cell count, biochemical levels, thyroid hormone levels, serum electrolytes, blood glucose, lipid metabolism, blood ammonia, blood gas analysis, homocysteine, and urinary organic acid metabolism, were unremarkable, thereby excluding urea cycle disorders, certain fatty acid oxidation deficiencies, and aminoacidopathies. Given that the patient presents with multisystem malformation and a global developmental delay (GDD) phenotype, whole exome sequencing (WES) was chosen to elucidate the genetic etiology after consultation with medical geneticists and obtaining informed consent from the patient’s parents. WES revealed a variant in the NM_004380 (CREBBP: c.1068del (GRCh38) (p. Gln356Hisfs*33). Sanger sequencing confirmed the absence of this variant in both parents (Fig. 1). According to the American College of Medical Genetics and Genomics (ACMG) Criteria and Guidelines for the Classification of Genetic Variants, this variant meets the criteria for a “Pathogenic variant " PVS1[Very strong evidence of pathogenicity; frameshift variant in a gene where loss of function (LOF)] + PM6(Assumed de novo, but without confirmation of paternity and maternity) + PM2_Supporting(Absent from controls in Exome Sequencing Project, 1000 Genomes or the Exome Aggregation Consortium (ExAC) [8].

Fig. 1
figure 1

Sanger sequencing chromatograms of CREBBP index’s family

Full size image

This variant has not been documented in the gnomAD, HGMD (The Human Gene Mutation Database), or ClinVar databases (ClinVar (nih.gov)). A diagnosis of RSTS has been confirmed. We have developed a structured follow-up and early intervention program aimed at enhancing the child’s quality of life.

At one year of age, the patient was brought to a community health center with a provisional diagnosis of bacterial diarrhea due to excessive sweating, intermittent diarrhea, poor weight gain, and recurring fever lasting two months. Laboratory analysis revealed white blood cell count: 12.3 × 109 (normal range: 5.6–15 × 109), neutrophil count: 11.8 × 109 (normal range: 3.2–10.7 × 109), and C-reactive protein (CRP): 44 mg/L (normal range: 0–10 mg/L). Lactate dehydrogenase (LDH): 421 U/L (normal range: 165–395 U/L). Stool samples microscopy and culture results: negative. Polymerase chain reaction (PCR) tests for Influenza A and B, rhinovirus, adenovirus, Epstein–Barr virus, and Mycoplasma were also conducted, all of which returned negative results. Blood biochemistry and erythrocyte sedimentation rate (ESR) were within normal limits, and echocardiography was unremarkable. The patient’s fever did not improve after a prolonged treatment with Ceftriaxone Sodium at a dosage of 50 mg/kg. Following a two-week hospitalization for investigation, the child remained undiagnosed and was classified as having a fever of unknown origin (FUO). The patients were re-evaluated, which included a detailed medical history, a thorough physical examination, and laboratory screening that ruled out common infections, connective tissue disorders, and other factors typically associated with FUO. Tumors were considered as a potential cause, as they represent the third largest group of causes for unexplained fever in children. A computed tomography scan revealed a mass of mixed density with multiple punctate calcifications on the right side of the abdominal aorta, measuring approximately 3.2 × 2.1 cm. The mass exhibited significant inhomogeneous enhancement on the enhancement scan Fig. 2.

Fig. 2
figure 2

Computed tomography the mass was located retroperitoneum. (A) plain CT scan (B) contrast-enhanced CT scan. (The red arrow indicates the position of the tumor)

Full size image

Laboratory tests revealed an elevated serum neuron-specific enolase (NSE) level of 35 ng/ml (reference range: 0-16.3 ng/ml). The patient was referred for surgical removal of the tumor. Immunohistochemical examination of the tumor pathology demonstrated positive expression of chromogranin A (CgA), synaptophysin (Syn), neural cell adhesion molecule (CD56), INI1, and a Ki-67 proliferative index of 5%. NeuN and glial fibrillary acidic protein (GFAP) showed negative expression. The pathological diagnosis confirmed the presence of ganglioneuroblastoma intermixed (GNBI), as verified by immunohistochemistry. Fluorescence in situ hybridization (FISH) did not demonstrate MYCN amplification in the patient’s tumors. Based on a comprehensive evaluation of clinical, imaging, laboratory, and pathological results, GNB was diagnosed and identified as the definitive cause of fever in this patient. Follow-up abdominal CT examination conducted one year post-surgery showed no signs of tumor recurrence or metastasis. At the age of two, the child was able to walk independently and could pronounce simple words. The patient’s last visit occurred at the age of 2 years and 5 months, revealing a length of 83 cm (< 25th percentile), weight of 11.5 kg (< 10th percentile), and head circumference of 45 cm (< 3rd percentile). His DQ was 41, indicating a moderate developmental anomaly. The child exhibited delays in language and adaptability, only able to speak several single words and unable to form sentences, with poor attention span.

Discussion and conclusions

Although RSTS does not typically affect life expectancy, MILLER R et al. [4] identified 36 individuals (5%) with tumors among 724 patients with RSTS. Similarly, BOOT MV et al. [3] conducted a retrospective analysis of 86 individuals diagnosed with RSTS in the Netherlands from 1986 to 2015, finding that 26 individuals (30%) were associated with tumors. Additionally, Naye Choi reported that 12% of Korean RSTS patients had tumors [9]. In contrast, our previous study on RSTS summarized 60 cases diagnosed with CREBBP pathogenic variants in China and found no reports of concurrent tumors [10]. CREBBP is involved in transcriptional regulation and epigenetic modification, and variations in this gene affect at least half of RSTS individuals. Consequently, studying RSTS individuals with CREBBP variants presents a unique opportunity to analyze the correlation between tumors and RSTS.

Including the present study, tumors have been reported in 44 individuals with RSTS due to CREBBP variations, all of whom have been confirmed through genetic testing. An overview of all reported tumors in RSTS is presented in Tables 1 and 2. Among these patients, 13 cases were identified as malignant tumors (Table 1). The median age for malignant tumors was 9 years (age range: neonatal period to 57 years), with 7 males and 6 females, and 54.8% of the patients were children. Among these RSTS patients, hematological malignancies (5/13) and neurological malignancies (3/13) predominated, which aligns with the types of malignant tumors observed in the general pediatric population. Leukemias represent approximately 30–40% of pediatric malignancies, lymphomas account for about 12%, and neuroblastoma is the most prevalent among childhood extracranial solid tumors [25, 26].

Table 1 Genotypes and tumor types of 13 patients with CREBBP variants who have RSTS co-morbidities and malignant tumors
Full size table

The mutation types of malignant tumors included frameshift variants (5/13), microdeletions (3/13), splice site mutations (3/13), a nonsense mutation (1/13), and a missense mutation (1/13).

Benign tumors were identified in 31 cases (Table 2).

Table 2 Genotypes and tumor types of 31 patients with CREBBP variants who have RSTS co-morbidities and benign tumors
Full size table

The median age was 13 years (age range: 1 year period to 49 years) 7 male, 22 femal, and 53.4% were childrens and adolescents. Pilomatricoma was identified as the most common benign tumor (10/31), followed by hemangioma (7/31) and meningioma (5/31). The mutation types associated with benign tumors included microdeletions (13/31), frameshift mutations (6/31), duplications (5/31), nonsense mutations (3/31), missense mutations (3/31), and a splice site mutation (1/31). Notably, duplication variants have only been reported in RSTS patients with benign tumors. We observed that the same variant may correspond to different tumor types in RSTS individuals. For instance, deletions of exons 9 to 31 have been reported in individuals with meningioma, neuroma, and dermatofibroma. Additionally, duplications of exons 4 to 23 have been observed in individuals with meningioma, naevus, and fibroadenoma of the breast. The c.1011dupA variant has also been reported in individuals with meningioma and hemangioma. Unfortunately, due to the limited sample size, we were unable to identify a correlation between genotype and tumor type characteristics, which is consistent with the conclusions of previous studies [3].

CREBBP was first identified as a member of the KAT3 family of histone acetyltransferases (HAT), alongside its association with myeloid leukemia (AML) [26]. Although the mechanisms underlying oncogenesis in the absence of CREBBP protein remain unclear, it is proposed that CREBBP may function as a tumor suppressor, participating in various tumor-suppressor pathways [27]. Somatic mutations in CREBBP have been shown to affect H3K18 acetylation, which plays a significant role in the development of malignant tumors, including relapsed acute lymphoblastic leukemia and lymphoma [28,29,30]. GNB originates from embryonic neural crest cells and is differentiated from neuroblastoma and ganglioneuroma based on its degree of differentiation and biological behavior. Clinical manifestations of GNB typically include fever, vomiting, and excessive sweating, with a predilection for the retroperitoneum, adrenal gland, and mediastinum. In rare instances, the tumor secretes vasoactive intestinal peptide (VIP), which can lead to chronic diarrhea and persistent hypokalemia and this is our patient was initially diagnosed with the cause of bacterial diarrhoea [31]. Miller and Rubinstein [4] have suggested that tumors of neural crest origin exhibit an increased predisposition in patients with RSTS, with an approximate incidence of 5%. A review of the literature revealed four reported cases of neuroblastoma in patients with RSTS, of which only one case underwent genetic analysis (Fig. 3) [5]. The link between the GNB observed in our patient and a pathogenic CREBBP variant remains inconclusive; therefore, further investigation into the molecular mechanisms underlying this association is warranted. Additionally, CREBBP functions as a key regulator in Wnt signaling and participates in similar cellular replacement activities, such as hair growth, that occur in the human body. Wnt signal transduction is believed to be potentially related to pilomatricoma [32, 33], which may explain the higher incidence of pilomatricoma in patients with RSTS.

In general, benign tumors are more prevalent in patients with RSTS compared to malignant tumors. CREBBP frameshift variants were most frequently observed in RSTS patients with malignant tumors, whereas microdeletions were more commonly found in those with benign tumors. In resource-constrained settings, where molecular genetic testing is often unavailable, the diagnosis and management of RSTS patients may rely solely on clinical grounds, potentially leading to a biased estimation of tumor incidence in this population. The 2024 first international consensus statement on Rubinstein-Taybi syndrome indicates that there is currently insufficient evidence to suggest that RSTS elevates the risk of tumors; therefore, routine tumor screening in patients with RSTS is not recommended [34]. However, given the birth prevalence of RSTS and the global population, this risk cannot be entirely dismissed. At present, RSTS lacks precision medicine approaches, and the quality of life for patients can only be improved through multidisciplinary collaboration.

In conclusion, this study presents the first documented case of a patient with RSTS and GNB in China. The diagnosis was established through whole exome sequencing, thereby enhancing our understanding of the gene mutations associated with this disease and broadening our knowledge of its phenotypic manifestations.

Fig. 3
figure 3

The report documents 23 cases of variations co-occurring with tumors distributed along the CREEBP protein, except for microdeletion and duplication variants. Green markers indicating benign tumors and red markers indicating malignant tumors

Full size image

Data availability

The datasets generated and/or analysed during the current study are available in the ClinVar repository, VCV002446424.1.

References

  1. Hennekam RCM, Van Den Boogaard M-J, Sibbles BJ, Van Spijker HG. Rubinstein-Taybi syndrome in the Netherlands. Am J Med Genet. 1990;37(S6):17–29.

    Google Scholar 

  2. Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, et al. Rubinstein–Taybi syndrome in diverse populations. Am J Med Genet Part A. 2020;182(12):2939–50.

    CAS  PubMed  Google Scholar 

  3. Boot MV, van Belzen MJ, Overbeek LI, Hijmering N, Mendeville M, Waisfisz Q, et al. Benign and malignant tumors in Rubinstein-Taybi syndrome. Am J Med Genet A. 2018;176(3):597–608.

    CAS  PubMed  PubMed Central  Google Scholar 

  4. Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet. 1995;56(1):112–5.

    CAS  PubMed  Google Scholar 

  5. de Kort E, Conneman N, Diderich K. A case of Rubinstein-Taybi syndrome and congenital neuroblastoma. Am J Med Genet A. 2014;164A(5):1332–3.

    PubMed  Google Scholar 

  6. Sy C, Henry J, Kura B, Brenner A, Grandhi R. Primary diffuse large B-Cell lymphoma in a patient with Rubinstein–Taybi syndrome: case report and review of the literature. World Neurosurg. 2018;109:342–6.

    PubMed  Google Scholar 

  7. Children′s Health Care Center BCsH. Capital medical university, National center for children′s health, center BPSQCaI, committee CMaCHACBSaBHP, committee BHCPACaAHDP, committee MaCHRIAPR. Chinese guideline for the diagnosis of global developmental delay. Chin J Appl Clin Pediatr. 2024;39(7):481–9.

    Google Scholar 

  8. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Sci. 2015;17(5):405–24.

    Google Scholar 

  9. Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM. Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome. Mol Genet Genom Med. 2021;9(10).

  10. Kuai Y, Hao J, Tang B, Zhu S, Tang L, Zeng L, et al. A case report of Rubinstein-Taybi syndrome and literature review. Chin J Reproductive Health. 2023;34(06):581–5.

    Google Scholar 

  11. Kurtz KJ, Tallis E, Marcogliese AN, Pulivarthi RH, Potocki L, Stevens AM. Near-Haploid B-Cell acute lymphoblastic leukemia in a patient with Rubinstein-Taybi syndrome. Pediatr Hematol Oncol. 2022;39(8):747–54.

    CAS  PubMed  Google Scholar 

  12. Wieczorek D, Bartsch O, Lechno S, Kohlhase J, Peters DJM, Dauwerse H, et al. Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. Am J Med Genet Part A. 2009;149A(12):2849–54.

    PubMed  Google Scholar 

  13. Mar N, Digiuseppe JA, Dailey ME. Rubinstein–Taybi syndrome – a window into follicular lymphoma biology. Leuk Lymphoma. 2016;57(12):2908–10.

    PubMed  Google Scholar 

  14. Milani D, Bonarrigo FA, Menni F, Spaccini L, Gervasini C, Esposito S. Hepatoblastoma in Rubinstein-Taybi syndrome: A case report. Pediatr Blood Cancer. 2016;63(3):572–3.

    PubMed  Google Scholar 

  15. Butler GH, Boyle M, Lynch SA, Ryan S, McDermott M, Capra M. One to watch: A germ cell tumor arising in an undescended testicle in Rubinstein-Taybi syndrome. J Pediatr Hematol Oncol. 2016;38(6):e191–2.

    PubMed  Google Scholar 

  16. Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Inheritance and variable expression in Rubinstein–Taybi syndrome. Am J Med Genet Part A. 2010;152A(9):2254–61.

    CAS  PubMed  Google Scholar 

  17. Tornese G, Marzuillo P, Pellegrin MC, Germani C, Faleschini E, Zennaro F, et al. A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood. Clin Endocrinol. 2015;83(3):437–9.

    Google Scholar 

  18. Yoo H, Kim K, Kim I, Rho S-H, Park J-E, Lee K, et al. Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de Novo variants besides an overt CREBBP mutation. Int J Mol Sci. 2015;16(3):5697–713.

    CAS  PubMed  PubMed Central  Google Scholar 

  19. Chiang PW, Lee NC, Chien N, Hwu WL, Spector E, Tsai ACH. Somatic and germ-line mosaicism in Rubinstein–Taybi syndrome. Am J Med Genet Part A. 2009;149A(7):1463–7.

    CAS  PubMed  Google Scholar 

  20. Papathemeli D, Schulzendorff N, Kohlhase J, Göppner D, Franke I, Gollnick H. Pilomatricomas in Rubinstein-Taybi syndrome. JDDG: J Der Deutschen Dermatologischen Gesellschaft. 2015;13(3):240–2.

    Google Scholar 

  21. Rokunohe D, Nakano H, Akasaka E, Toyomaki Y, Sawamura D. Rubinstein-Taybi syndrome with multiple pilomatricomas: the first case diagnosed by CREBBP mutation analysis. J Dermatol Sci. 2016;83(3):240–2.

    PubMed  Google Scholar 

  22. Lopez-Atalaya JP, Gervasini C, Mottadelli F, Spena S, Piccione M, Scarano G, et al. Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome. J Med Genet. 2012;49(1):66–74.

    CAS  PubMed  Google Scholar 

  23. Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, et al. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet. 1999;7(7):748–56.

    CAS  PubMed  Google Scholar 

  24. Wincent J, Luthman A, van Belzen M, van der Lans C, Albert J, Nordgren A, et al. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome. Mol Genet Genom Med. 2015;4(1):39–45.

    Google Scholar 

  25. Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, et al. Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet. 2015;134(6):613–26.

    CAS  PubMed  Google Scholar 

  26. Borrow J, Stanton VP, Andresen JM, Becher R, Behm FG, Chaganti RSK, et al. The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB–binding protein. Nat Genet. 1996;14(1):33–41.

    CAS  PubMed  Google Scholar 

  27. Goodman RH, Smolik S. CBP/p300 in cell growth, transformation, and development. Genes Dev. 2000;14(13):1553–77.

    CAS  PubMed  Google Scholar 

  28. Dixon ZA, Nicholson L, Zeppetzauer M, Matheson E, Sinclair P, Harrison CJ, et al. CREBBP knockdown enhances RAS/RAF/MEK/ERK signaling in Ras pathway mutated acute lymphoblastic leukemia but does not modulate chemotherapeutic response. Haematologica. 2017;102(4):736–45.

    CAS  PubMed  PubMed Central  Google Scholar 

  29. Morgan MA, Shilatifard A. Chromatin signatures of cancer. Genes Dev. 2015;29(3):238–49.

    CAS  PubMed  PubMed Central  Google Scholar 

  30. Mullighan CG, Zhang J, Kasper LH, Lerach S, Payne-Turner D, Phillips LA, et al. CREBBP mutations in relapsed acute lymphoblastic leukaemia. Nature. 2011;471(7337):235–9.

    CAS  PubMed  PubMed Central  Google Scholar 

  31. Badiu Tișa I, Samașca G, Aldea C, Lupan I, Farcau D, Makovicky P. Ganglioneuroblastoma in children. Neurol Sci. 2019;40(9):1985–9.

    PubMed  Google Scholar 

  32. Teo J-L, Kahn M. The Wnt signaling pathway in cellular proliferation and differentiation: A Tale of two coactivators. Adv Drug Deliv Rev. 2010;62(12):1149–55.

    CAS  PubMed  Google Scholar 

  33. Chan E, Gat U, McNiff JM, Fuchs E. A common human skin tumour is caused by activating mutations in β-catenin. Nat Genet. 1999;21(4):410–3.

    CAS  PubMed  Google Scholar 

  34. Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, et al. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. J Med Genet. 2024;61(6):503–19.

    CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank Dr Heping Fang for reading and revising this paper.

Funding

This research was funded by is supported by Chengdu Bureau of Science and Technology Project (2021-YF05-01658-SN).

Author information

Author notes

  1. Haiting Liu and Shuyao Zhu contributed equally to this work.

Authors and Affiliations

  1. Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290 West Second Street, Shayan Road, Chengdu, 610045, China

    Jiaji Zhou, Fu Xiong, Guanghuan Pi & Shuyao Zhu

  2. Department of Children’s Health Care Sichuan, Provincial Maternity and Child Health Care Hospital, Chengdu, China

    Tang Dan & Lan Zeng

  3. Department of Pediatrics, The Second People’s Hospital of Chengdu City, Chengdu, China

    Ai Chen

  4. Department of Neonatology, West China Second University Hospital, Sichuan University, West China Women’s and Children’s Hospital, No. 20, Section 3, Renmin South Road, Chengdu, 61005, China

    Haiting Liu

Authors
  1. Jiaji Zhou
    View author publications

    You can also search for this author inPubMed Google Scholar

  2. Tang Dan
    View author publications

    You can also search for this author inPubMed Google Scholar

  3. Lan Zeng
    View author publications

    You can also search for this author inPubMed Google Scholar

  4. Fu Xiong
    View author publications

    You can also search for this author inPubMed Google Scholar

  5. Guanghuan Pi
    View author publications

    You can also search for this author inPubMed Google Scholar

  6. Ai Chen
    View author publications

    You can also search for this author inPubMed Google Scholar

  7. Haiting Liu
    View author publications

    You can also search for this author inPubMed Google Scholar

  8. Shuyao Zhu
    View author publications

    You can also search for this author inPubMed Google Scholar

Contributions

Jiaji Zhou, Haiting Liu and Shuyao Zhu conceptualized and designed the study, drafted the initial manuscript, and critically reviewed and revised the manuscript. Dan Tang and Lan Zeng designed the carried out the initial analyses. Fu Xiong, Guanghuan Pi and Ai Chen critically reviewed and revised the manuscript. All authors reviewed the article critically for intellectual content and agreed to the published version of the manuscript.

Corresponding authors

Correspondence to Haiting Liu or Shuyao Zhu.

Ethics declarations

Ethics approval and consent to participate

The study was conducted in accordance with the Declaration of Helsinki, and approved by the Institutional Ethics Committee of Sichuan Provincial Maternity and Child Health Care Hospital (Protocol 20230911-225 and date of 2023. 09. 11). Written informed consent was obtained from the parents of the patient.

Consent for publication

Written informed consent was obtained from patient’s parents for publication of the details of their medical case and any accompanying images.

Competing interests

The authors declare no competing interests.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Zhou, J., Dan, T., Zeng, L. et al. Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review. BMC Pediatr 25, 253 (2025). https://doiorg.publicaciones.saludcastillayleon.es/10.1186/s12887-025-05608-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doiorg.publicaciones.saludcastillayleon.es/10.1186/s12887-025-05608-6

Keywords

BMC Pediatrics

ISSN: 1471-2431

Contact us