Wilms tumor with Mulibrey Nanism: A case report and review of literature

Upasana, K.; Thakkar, Dhwanee; Gautam, Dheeraj; Sachdev, Mansi; Yadav, Anjali; Kapoor, Rohit; Raghunathan, Veena; Dhaliwal, Maninder; Bhargava, Kartikeya; Nair, Sandhya; Sharma, Jaiprakash; Rastogi, Neha; Yadav, Satya Prakash

doi:10.1002/cnr2.1512

Cited by 4 publications

(1 citation statement)

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“…Mulibrey nanism (MUscle-LIver-BRain-EYe nanism, MUL, OMIM #253250) is a rare autosomal recessive disorder caused by biallelic loss of function variants in the TRIM37 gene (tripartite motif–containing protein 37, OMIM # 605073) ( 1 , 2 ). The MUL phenotype consists of severe growth failure, dysmorphic facial features, congestive heart failure (CHF) due to constrictive pericarditis and increased risk of Wilms’ tumor (WT) ( 3 , 4 ). TRIM37 encodes an E3 ubiquitin-protein ligase that belongs to the TRIM-protein superfamily.…”

Section: Introductionmentioning

confidence: 99%

Mulibrey nanism and immunological complications: a comprehensive case report and literature review

Gazzin,

Pala,

Bosticardo

et al. 2023

Front. Immunol.

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IntroductionMulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms’ tumor. Although immune system impairment has been documented in MUL, the underlying mechanisms remain poorly understood.MethodsWe present a case of MUL with progressive lymphopenia and review similar cases from the literature.ResultsOur patient presented with prenatal onset growth restriction, characteristic dysmorphic features, and Wilms’ tumor. She developed progressive lymphopenia starting at 10 years of age, leading to the initiation of intravenous immunoglobulin (IVIG) replacement therapy and infection prophylaxis. Genetic analysis detected a likely pathogenic variant on the maternal allele and copy number loss on the paternal allele in TRIM37. Subsequently a cardiac magnetic resonance imaging was conducted revealing signs of pericardial constriction raising concerns for intestinal lymphatic losses. The cessation of IVIG therapy did not coincide with any increase in the rate of infections. The patient exhibited a distinct immunological profile, characterized by hypogammaglobulinemia, impaired antibody responses, and skewed T-cell subsets with an altered CD4+/CD8+ ratio, consistent with previous reports. Normal thymocyte development assessed by artificial thymic organoid platform ruled out an early hematopoietic intrinsic defect of T-cell development.DiscussionThe immunological profile of MUL patients reported so far shares similarities with that described in protein-losing enteropathy secondary to CHF in Fontan circulation and primary intestinal lymphangiectasia. These similarities include hypogammaglobulinemia, significant T-cell deficiency with decreased CD4+ and CD8+ counts, altered CD4+/CD8+ ratios, and significantly modified CD4+ and CD8+ T-cell phenotypes toward effector and terminal differentiated T cells, accompanied by a loss of naïve CD45RA+ T lymphocytes. In MUL, CHF is a cardinal feature, occurring in a significant proportion of patients and influencing prognosis. Signs of CHF or constrictive pericarditis have been evident in the case reported here and in all cases of MUL with documented immune dysfunction reported so far. These observations raise intriguing connections between these conditions. However, further investigation is warranted to in-depth define the immunological defect, providing valuable insights into the pathophysiology and treatment strategies for this condition.

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Section: Introductionmentioning

confidence: 99%

Mulibrey nanism and immunological complications: a comprehensive case report and literature review

Gazzin,

Pala,

Bosticardo

et al. 2023

Front. Immunol.

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Wilms tumor with Mulibrey Nanism: A case report and review of literature

et al. 2021

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Background: Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2-year-old boy with WT and MUL and present a review of literature on WT in MUL.Case: Our patient had associated cardiac problems of atrial septal defect, atrial flutter and an episode of sudden cardiac arrest. We managed him successfully with chemotherapy, surgery and multi-speciality care. He is alive and in remission at follow-up of 6 months. Conclusion:A total of 14 cases (including present case) of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient.

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Cyclophosphamide/dactinomycin/vincristine

2022

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Wilms tumor with Mulibrey Nanism: A case report and review of literature

Cited by 4 publications

References 31 publications

Mulibrey nanism and immunological complications: a comprehensive case report and literature review

Mulibrey nanism and immunological complications: a comprehensive case report and literature review

Wilms tumor with Mulibrey Nanism: A case report and review of literature

Cyclophosphamide/dactinomycin/vincristine

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