The utility of brain biopsy in pediatric cryptogenic neurological disease

Hugo Layard Horsfall MBBS, BSc (Hons) 1 , 2 , Sebastian M. Toescu MBChB (Hons), BSc (Hons), MRCS 1 , 3 , Patrick J. Grover MSc, FRCS 1 , Jane Hassell MBBS, MRCPCH 4 , Charlotte Sayer MBBS, MRCPCH 4 , Cheryl Hemingway MBChB, FRCPCH, PhD 4 , Brian Harding MA, BM, BCh, DPhil, FRCPath 6 , 5 , Thomas S. Jacques MA, MB, BChir, PhD, MRCP, FRCPath 6 , 7 and Kristian Aquilina MD, FRCS(SN) 1
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  • 1 Departments of Neurosurgery,
  • 4 Neurology, and
  • 6 Histopathology, Great Ormond Street Hospital for Children, London;
  • 2 Division of Neurosurgery, Department of Clinical Neurosciences, Addenbrooke’s Hospital and University of Cambridge;
  • 3 Developmental Imaging and Biophysics Section and
  • 7 Developmental Biology and Cancer Department, UCL GOS Institute of Child Health, London, United Kingdom; and
  • 5 Department of Pathology, Children’s Hospital of Philadelphia, Pennsylvania
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OBJECTIVE

The authors’ aim was to characterize a single-center experience of brain biopsy in pediatric cryptogenic neurological disease.

METHODS

The authors performed a retrospective review of consecutive brain biopsies at a tertiary pediatric neurosciences unit between 1997 and 2017. Children < 18 years undergoing biopsy for neurological pathology were included. Those with presumed neoplasms and biopsy performed in the context of epilepsy surgery were excluded.

RESULTS

Forty-nine biopsies in 47 patients (25 females, mean age ± SD 9.0 ± 5.3 years) were performed during the study period. The most common presenting symptoms were focal neurological deficit (28.6%) and focal seizure (26.5%). Histopathological, microbiological, and genetic analyses of biopsy material were contributory to the diagnosis in 34 cases (69.4%). Children presenting with focal seizures or with diffuse (> 3 lesions) brain involvement on MRI were more likely to yield a diagnosis at biopsy (OR 3.07 and 2.4, respectively). Twelve patients were immunocompromised and were more likely to yield a diagnosis at biopsy (OR 6.7). Surgery was accompanied by severe complications in 1 patient. The most common final diagnoses were infective (16/49, 32.7%), followed by chronic inflammatory processes (10/49, 20.4%) and occult neoplastic disease (9/49, 18.4%). In 38 cases (77.6%), biopsy was considered to have altered clinical management.

CONCLUSIONS

Brain biopsy for cryptogenic neurological disease in children was contributory to the diagnosis in 69.4% of cases and changed clinical management in 77.6%. Biopsy most commonly revealed underlying infective processes, chronic inflammatory changes, or occult neoplastic disease. Although generally safe, the risk of severe complications may be higher in immunocompromised and myelosuppressed children.

ABBREVIATIONS EBV = Epstein-Barr virus; PCR = polymerase chain reaction.

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Contributor Notes

Correspondence Sebastian M. Toescu: Great Ormond Street Hospital for Children, London, United Kingdom. sebastian.toescu@ucl.ac.uk.

INCLUDE WHEN CITING Published online July 3, 2020; DOI: 10.3171/2020.4.PEDS19783.

H.L.H. and S.M.T. share first authorship of this work.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

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