TY - JOUR
T1 - Neurological signs, symptoms and MRI abnormalities in patients with congenital melanocytic naevi and evaluation of routine MRI-screening
T2 - systematic review and meta-analysis
AU - Fledderus, Anne C.
AU - Widdershoven, Anna Linn
AU - Lapid, Oren
AU - Breugem, Corstiaan C.
AU - Pasmans, Suzanne G. M. A.
AU - van der Horst, Chantal M. A. M.
AU - Engelen, Marc M.
AU - Spuls, Phyllis I.
N1 - Funding Information: We would like to thank the following colleagues from the Amsterdam University Medical Centre: Farid van Etten for helping with the search strategy and Mariska Leeflang and Bada Yang for helping with the research protocol and statistical analysis. We thank Michel Willemsen, from the Radboud Medical Centre, for helping us formulate the research question, and for helping with the discussion of this manuscript by discussing this topic with a national team of neurologists. Funding Information: This project was supported by Stichting de Merel. Publisher Copyright: © 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - BACKGROUND: A congenital melanocytic naevus (CMN) is a rare skin condition that can be associated with abnormalities of the central nervous system (CNS). These anomalies can sometimes cause severe complications, and rarely death. Adequate information about aetiology and management is therefore crucial. To identify how to monitor patients with CMN, we aimed to estimate the prevalence of neurological involvement in patients with CMN and to summarize what specific neurological signs and symptoms and MRI abnormalities are reported in the medical literature. In addition, we summarized and evaluated the recommendations regarding MRI-screening reported in the medical literature. METHODS: This review was registered in PROSPERO and reported according to the MOOSE checklist. A search was conducted in EMBASE (Ovid), PubMed, and the Cochrane Library. We included studies with 10 or more patients with CMN, reporting on neurological signs and symptoms or CNS MRI. Study selection, data extraction and methodological quality assessment were performed by two independent reviewers. A meta-analysis was used to assess the prevalence of neurological signs and symptoms. RESULTS: Out of 1287 studies, fourteen studies were eligible for inclusion of which eight were included in the meta-analysis. Neurological signs and symptoms prevalence was 7.04% (CI 95% 4.47-10.93%) in the meta-analysis group and 6.26% (95% CI 3.85-10%) in a subgroup of patients with a CMN > 6 cm, evaluated in seven studies. Neurodevelopmental delay and seizures were the most frequently reported signs and symptoms. CNS melanocytosis and hydrocephalus were the most frequently reported MRI abnormalities. It was not possible to estimate the increased risk of neurological involvement in patients with CMN due to low quality of evidence and clinical heterogeneity. CONCLUSION: Standardization in CMN studies and a multi-centre prospective study are needed to evaluate neurological involvement. Based on current literature, it is not possible to make strong recommendations on routine MRI-screening. For now, every clinical centre should decide on its own policy and weigh the advantages and disadvantages of routine MRI.
AB - BACKGROUND: A congenital melanocytic naevus (CMN) is a rare skin condition that can be associated with abnormalities of the central nervous system (CNS). These anomalies can sometimes cause severe complications, and rarely death. Adequate information about aetiology and management is therefore crucial. To identify how to monitor patients with CMN, we aimed to estimate the prevalence of neurological involvement in patients with CMN and to summarize what specific neurological signs and symptoms and MRI abnormalities are reported in the medical literature. In addition, we summarized and evaluated the recommendations regarding MRI-screening reported in the medical literature. METHODS: This review was registered in PROSPERO and reported according to the MOOSE checklist. A search was conducted in EMBASE (Ovid), PubMed, and the Cochrane Library. We included studies with 10 or more patients with CMN, reporting on neurological signs and symptoms or CNS MRI. Study selection, data extraction and methodological quality assessment were performed by two independent reviewers. A meta-analysis was used to assess the prevalence of neurological signs and symptoms. RESULTS: Out of 1287 studies, fourteen studies were eligible for inclusion of which eight were included in the meta-analysis. Neurological signs and symptoms prevalence was 7.04% (CI 95% 4.47-10.93%) in the meta-analysis group and 6.26% (95% CI 3.85-10%) in a subgroup of patients with a CMN > 6 cm, evaluated in seven studies. Neurodevelopmental delay and seizures were the most frequently reported signs and symptoms. CNS melanocytosis and hydrocephalus were the most frequently reported MRI abnormalities. It was not possible to estimate the increased risk of neurological involvement in patients with CMN due to low quality of evidence and clinical heterogeneity. CONCLUSION: Standardization in CMN studies and a multi-centre prospective study are needed to evaluate neurological involvement. Based on current literature, it is not possible to make strong recommendations on routine MRI-screening. For now, every clinical centre should decide on its own policy and weigh the advantages and disadvantages of routine MRI.
KW - Brain
KW - Central nervous system
KW - Congenital melanocytic naevi
KW - MRI
KW - Melanocytes
KW - Melanocytosis
KW - Melanoma
KW - Neurocutaneous
KW - Neuroimaging
KW - Pigment cell
UR - http://www.scopus.com/inward/record.url?scp=85125614645&partnerID=8YFLogxK
U2 - https://doi.org/10.1186/s13023-022-02234-8
DO - https://doi.org/10.1186/s13023-022-02234-8
M3 - Review article
C2 - 35236387
SN - 1750-1172
VL - 17
SP - 95
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 95
ER -