Literature DB >> 30794039

Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report.

Ishan Kumar1, Priyanka Aggarwal2, Tulika Rai3, Vineeta Gupta2.   

Abstract

Giant congenital melanocytic nevus (GCMN) is associated with neurocutaneous melanocytosis and various other neurological complications. Its association with migrational anomalies of the brain is extremely rare. Herein, we document the first case of GCMN in a one-day-old baby associated with localized hemimegalencephaly (HME) of the brain with extensive malformation of cortical development including polymicrogyria, pachygyria and sublobar dysplasia, limited to an enlarged quadrant of the brain. HME and GCMN are considered embryological anomalies of cell migration and proliferation. We discuss the unusual magnetic resonance imaging findings along with a brief review of the literature. To the best of our knowledge, our case is the first to report the association of GCMN with localized HME.

Entities:  

Keywords:  Congenital melanocytic nevus; MRI; localized hemimegalencephaly; pediatric; posterior quadrantic dysplasia

Mesh:

Year:  2019        PMID: 30794039      PMCID: PMC6512208          DOI: 10.1177/1971400919832474

Source DB:  PubMed          Journal:  Neuroradiol J        ISSN: 1971-4009


  12 in total

Review 1.  Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.

Authors:  Harvey B Sarnat; Laura Flores-Sarnat
Journal:  Brain Dev       Date:  2014-10-19       Impact factor: 1.961

2.  Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Authors:  Alissa M D'Gama; Ying Geng; Javier A Couto; Beth Martin; Evan A Boyle; Christopher M LaCoursiere; Amer Hossain; Nicole E Hatem; Brenda J Barry; David J Kwiatkowski; Harry V Vinters; A James Barkovich; Jay Shendure; Gary W Mathern; Christopher A Walsh; Annapurna Poduri
Journal:  Ann Neurol       Date:  2015-02-26       Impact factor: 10.422

3.  Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

Authors:  S Boppudi; N Bögershausen; H B Hove; E F Percin; D Aslan; R Dvorsky; G Kayhan; Y Li; C Cursiefen; I Tantcheva-Poor; P B Toft; O Bartsch; C Lissewski; I Wieland; S Jakubiczka; B Wollnik; M R Ahmadian; L M Heindl; M Zenker
Journal:  Clin Genet       Date:  2016-04-29       Impact factor: 4.438

4.  Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis.

Authors:  Iftikhar Ahmed; Whitney D Tope; Terri L Young; Danielle M Miller; Kenneth E Bloom
Journal:  J Am Acad Dermatol       Date:  2002-08       Impact factor: 11.527

5.  Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia.

Authors:  Masumi Nakahashi; Noriko Sato; Akira Yagishita; Miho Ota; Yoshiaki Saito; Kenji Sugai; Masayuki Sasaki; Jun Natsume; Yoshito Tsushima; Makoto Amanuma; Keigo Endo
Journal:  Neuroradiology       Date:  2009-08-12       Impact factor: 2.804

6.  Posterior quadrantic dysplasia or hemi-hemimegalencephaly: a characteristic brain malformation.

Authors:  M D D'Agostino; A Bastos; C Piras; A Bernasconi; T Grisar; V Gross Tsur; J Snipes; C Juhasz; H Chugani; R Guerrini; H Cross; E Andermann; F Dubeau; J Montes; A Olivier; F Andermann
Journal:  Neurology       Date:  2004-06-22       Impact factor: 9.910

Review 7.  Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects.

Authors:  Laura Flores-Sarnat
Journal:  J Child Neurol       Date:  2002-05       Impact factor: 1.987

8.  Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis.

Authors:  Francis Shih; Stephen Yip; Patrick J McDonald; Albert E Chudley; Marc R Del Bigio
Journal:  Acta Neuropathol Commun       Date:  2014-10-21       Impact factor: 7.801

9.  Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome.

Authors:  R Waelchli; S E Aylett; D Atherton; D J Thompson; W K Chong; V A Kinsler
Journal:  Br J Dermatol       Date:  2015-08-27       Impact factor: 9.302

Review 10.  Giant congenital melanocytic nevus.

Authors:  Ana Carolina Leite Viana; Bernardo Gontijo; Flávia Vasques Bittencourt
Journal:  An Bras Dermatol       Date:  2013 Nov-Dec       Impact factor: 1.896

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