A systematic approach in the diagnosis of paediatric skull lesions: what radiologists need to know

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Abstract

Paediatric skull lesions are commonly identified on imaging. They can be challenging to image, given their location and size, and often require several imaging modalities to narrow down the differential diagnosis. Accurate diagnosis of these lesions is paramount because the clinical therapy can vary tremendously. In this review, we provide a simple and systematic approach to clinical-radiological features of primary skull lesions. We highlight the imaging characteristics and differentiate pathologies based on imaging appearances. We also accentuate the role of cross-sectional imaging in lesion identification and management implications.

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Most cited references 137

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NF1 gene and neurofibromatosis 1.

S A Rasmussen, J Friedman (2000)

Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features is age dependent. The average life expectancy of patients with NF1 is probably reduced by 10-15 years, and malignancy is the most common cause of death. The prevalence of clinically diagnosed NF1 ranges from 1/2,000 to 1/5,000 in most population-based studies. A wide variety of NF1 mutations has been found in patients with NF1, but no frequently recurring mutation has been identified. Most studies have not found an obvious relation between particular NF1 mutations and the resulting clinical manifestations. The variability of the NF1 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are involved in determining the clinical manifestations, but the nature of these factors has not yet been determined. Laboratory testing for NF1 mutations is difficult. A protein truncation test is commercially available, but its sensitivity, specificity, and predictive value have not been established. No general, population-based molecular studies of NF1 mutations have been performed. At this time, it appears that the benefits of population-based screening for clinical features of NF1 would not outweigh the costs of screening.

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W Reardon, R M Winter, P Rutland … (1994)

Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2 in nine unrelated affected individuals as well as complete cosegregation between SSCP variation and disease in three unrelated multigenerational families. In four sporadic cases, the normal parents did not have SSCP variation. Finally, direct sequencing has revealed specific mutations in the B exon in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.

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Langerhans cell histiocytosis: diagnosis, natural history, management, and outcome.

P. Schomberg, Patricia B Mullan, D Howarth … (1999)

The objective of this descriptive analysis of a large cohort of patients with Langerhans cell histiocytosis (LCH) was to add to the understanding of the natural history, management, and outcome of this disease. Three hundred fourteen Mayo Clinic patients with histologically proven LCH were categorized into those patients with multisystem disease and those patients with single system disease. Clinical features, treatment, and outcome were determined from the case history notes and tumor registry correspondence. Treatment included chemotherapy, radiotherapy, and surgical excision. The end points were disease free survival, active disease, or death. The median time of follow-up was 4 years (range, 1 month to 47.5 years). The age of the patients ranged from 2 months to 83 years. Of the 314 patients, there were 28 deaths. Multisystemic LCH was found in 96 patients, 25 of whom had continuing active disease after treatment. Isolated bone LCH lesions were observed in 114 of the 314 patients, 111 of whom (97%) achieved disease free survival after treatment. The most common sites of osseous LCH were the skull and proximal femur. Of the 87 patients with isolated pulmonary involvement, only 3 were nonsmokers. After treatment with corticosteroids (+/- cyclophosphamide or busulphan), 74 patients achieved disease free survival, but 10 patients died. Pituitary-thalamic axis LCH, characterized by diabetes insipidus, was found in 44 patients. After treatment, 30 of these patients had disease free survival, but all required long term hormone replacement with desmopressin acetate. Lymph node involvement was found in 21 patients, and mucocutaneous involvement was found in 77 patients. Patients with isolated bone LCH lesions have the best prognosis compared with patients with LCH involvement of other systems. By contrast, 20% of patients with multisystem involvement have a progressive disease course despite treatment. The identification of prognostic indicators to facilitate appropriate treatment and long term follow-up surveillance is recommended.

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Author and article information

Journal

Journal ID (nlm-ta): Pol J Radiol

Journal ID (iso-abbrev): Pol J Radiol

Journal ID (publisher-id): PJR

Title: Polish Journal of Radiology

Publisher: Termedia Publishing House

ISSN (Print): 1733-134X

ISSN (Electronic): 1899-0967

Publication date (Electronic): 08 February 2019

Publication date Collection: 2019

Volume: 84

Pages: e92-e111

Affiliations

[1 ]Department of Radiology, University of Alabama at Birmingham, Birmingham, AL, USA

[2 ]Department of Medical Imaging, Division of Paediatric Neuroradiology, Banner University Medical Centre, Tucson, Arizona, USA

[3 ]Faculty of Health Sciences, American University of Beirut, Lebanon

[4 ]Department of Medical Imaging, American University of Beirut Medical Center, Lebanon

[5 ]Department of Medical Imaging, Clemenceau Medical Center, affiliated with Johns Hopkins International, Beirut, Lebanon

Author notes

Correspondence address: Dr. Jad Chokr, Department of Medical Imaging, Clemenceau Medical Center, affiliated with Johns Hopkins International, Clemenceau Street, Beirut, Lebanon 11-2555. e-mail: jad_1986@ 123456hotmail.com

[A]

Study design

[B]

Data collection

[C]

Statistical analysis

[D]

Data interpretation

[E]

Manuscript preparation

[F]

Literature search

[G]

Funds collection

Article

Publisher ID: 83101

DOI: 10.5114/pjr.2019.83101

PMC ID: 6479152

PubMed ID: 31019602

SO-VID: fc74170a-50f3-4d03-a240-5ecbf7cc604c

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This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No Derivatives 4.0 International (CC BY-NC-ND 4.0). License allowing third parties to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.

A systematic approach in the diagnosis of paediatric skull lesions: what radiologists need to know

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Abstract

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Most cited references 137

NF1 gene and neurofibromatosis 1.

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Langerhans cell histiocytosis: diagnosis, natural history, management, and outcome.

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