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Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor

European Journal of Human Genetics volume 30, pages 262–264 (2022)Cite this article

Subjects

We read with interest the article published by Bach et al. [1], presenting four patients with osteopathia striata with cranial sclerosis (OSCS) and Wilms tumor, one of whom was the first case of bilateral presentation in this syndrome. Here we report on an additional patient with bilateral early onset Wilms tumor and OSCS due to a de novo previously undescribed pathogenic variant in AMER1 gene.

The proband, a female, was born at term by a spontaneous pregnancy with a regular course. Ultrasound examinations during gestation suspected left cerebral ventriculomegaly, unconfirmed at postnatal targeted controls. She was born by caesarean section. Birth weight was 3450 g and length 49 cm. Head circumference was reported to be high in the percentiles ranks and was monitored by brain ultrasound scans for the first 6–8 months of life. The presence of unspecified heart murmur was reported. She showed delayed developmental milestones; she walked alone at 18 months. Her first words were pronounced at 12 months, but fluent language occurred around 4 years of age. Sphincter control was reached at 3 years.

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Fig. 1: Facial characteristics and skull X-rays of the here reported eleven years old girl.
Fig. 2: Epimetaphyseal striations of the long bones—details.

Data availability

The datasets generated and analyzed during the current study which are not shown in the paper are available from the corresponding author on reasonable request.

References

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Acknowledgements

The authors thank the patient and her family for their contribution to this study and Leonardina De Lucia for technical assistance and her constant patience and support.

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Authors and Affiliations

  1. Medical Genetics Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Lorenzo Sinibaldi, Maria Lisa Dentici & Maria Cristina Digilio

  2. Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Lorenzo Sinibaldi, Maria Lisa Dentici & Maria Cristina Digilio

  3. Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Alessia Micalizzi, Alessandra Terracciano, Matteo Mattiuzzo & Antonio Novelli

  4. Department of Haematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Annalisa Serra

  5. Surgical Oncology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Alessandro Crocoli

  6. Department of Laboratories, Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Francesca Diomedi Camassei

  7. Department of Diagnostic Imaging, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

    Domenico Barbuti

Authors
  1. Lorenzo Sinibaldi
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  2. Alessia Micalizzi
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  3. Annalisa Serra
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  4. Alessandro Crocoli
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  5. Francesca Diomedi Camassei
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  6. Domenico Barbuti
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  7. Maria Lisa Dentici
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  8. Alessandra Terracciano
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  9. Matteo Mattiuzzo
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  10. Antonio Novelli
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  11. Maria Cristina Digilio
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Contributions

LS: Clinical diagnosis, writing and elaboration of the text; AM: molecular diagnosis and elaboration of the text; AS: oncological treatment and collection of the oncological treatment data; AC: surgical treatment and collection of the surgical treatment data; FDC: pathological studies; DB: X-ray imaging studies; MLD: elaboration of the text; AT, MM, and AN: molecular diagnosis; and MCD: clinical overview and elaboration of the text.

Corresponding author

Correspondence to Lorenzo Sinibaldi.

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Competing interests

The authors declare no competing interests.

Ethics approval

The present study was reviewed and approved by the Institutional Review Board of Bambino Gesù Children’s Hospital (RRC-2021-2874811). The study was conducted according to the guidelines of the Declaration of Helsinki. Written informed consent from the girl’s parents for blood sampling for genetic testing was obtained as part of the diagnostic protocol. Written informed consent for scientific publication of the girl’s pictures was also obtained.

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Sinibaldi, L., Micalizzi, A., Serra, A. et al. Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor. Eur J Hum Genet 30, 262–264 (2022). https://doi.org/10.1038/s41431-021-01035-0

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  • DOI: https://doi.org/10.1038/s41431-021-01035-0

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