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A nine-month-old boy with regression of milestones and severe constipation: an unusual case of a large spinal NTRK1 fusion pilocytic astrocytoma

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Abstract

Introduction

Pilocytic astrocytoma, a World Health Organization grade 1 tumor, is the most common brain tumor in children between 5 and 14 years of age and the second most common in children younger than 5 and older than 14. Although classical to the cerebellum and hypothalamic regions, it can also arise in the spinal cord. Larotrectinib, a selective inhibitor of tropomyosin receptor kinase, has been effective in pediatric tumors with NTRK fusion mutations in children as young as 1-month-old.

Case

We share the case of a 9-month-old boy who presented with a 4-month history of regression of his milestones and severe constipation who was found to have a large spinal pilocytic astrocytoma with multiple intracranial periventricular lesions.

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Abbreviations

NTRK:

Neurotrophic receptor tyrosine kinase

TRK:

Tropomyosin receptor kinase

ED:

Emergency department

MRI:

Magnetic resonance imaging

EVD:

External ventricular drain

PA:

Pilocytic astrocytoma

CT:

Computerized tomography

WHO:

World Health Organization

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Authors and Affiliations

  1. Department of Pediatrics, Albert Einstein College of Medicine and Division of Pediatric Hematology, Oncology and Cellular Therapy, Children’s Hospital at Montefiore, 3411 Wayne Ave., 9th Floor, Bronx, NY, 10467, USA

    Rachel Offenbacher, Nagma Dalvi, Adam Levy & Allison Martin

  2. Department of Neurosurgery, Albert Einstein College of Medicine, Montefiore, Bronx, NY, USA

    Andrew Kobets

  3. Department of Neurology, Albert Einstein College of Medicine and Division of Pediatric Neurology, Children’s Hospital at Montefiore, Bronx, NY, USA

    Nagma Dalvi

  4. Department of Radiology, Albert Einstein College of Medicine, Montefiore, Bronx, NY, USA

    Kevin Hsu

  5. Department of Pathology, Albert Einstein College of Medicine, Montefiore, Bronx, NY, USA

    Steven Chin

  6. Department of Pathology, NYU Langone Health, 550 First Avenue, New York, NY, 10016, USA

    Matija Snuderl

Authors
  1. Rachel Offenbacher
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  2. Andrew Kobets
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  3. Nagma Dalvi
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  4. Kevin Hsu
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  5. Steven Chin
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  6. Matija Snuderl
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  7. Adam Levy
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  8. Allison Martin
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Contributions

RO, ND, AL, and AM wrote the manuscript. KS and SC prepared the figures. All authors reviewed the manuscript.

Corresponding author

Correspondence to Rachel Offenbacher.

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The authors declare no competing interests.

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This is a case and care was provided in an ethical fashion.

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Offenbacher, R., Kobets, A., Dalvi, N. et al. A nine-month-old boy with regression of milestones and severe constipation: an unusual case of a large spinal NTRK1 fusion pilocytic astrocytoma. Childs Nerv Syst 39, 801–805 (2023). https://doi.org/10.1007/s00381-022-05662-w

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  • DOI: https://doi.org/10.1007/s00381-022-05662-w

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