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

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.

Keywords

Congenital melanocytic nevus localized hemimegalencephaly MRI pediatric posterior quadrantic dysplasia

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References

Viana

ACL

Gontijo

Bittencourt

. Giant congenital melanocytic nevus. An Bras Dermatol 2013; 88: 863–878.

Kalwaniya

Choudhary

Khokhar

et al.

A rare association of congenital melanocytic nevus and lissencephaly in childhood seizure. Indian J Paediatr Dermatol 2016; 17: 132–134.

Shih

Yip

McDonald

et al.

Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis. Acta Neuropathol Commun 2014; 2: 140.

Ahmed

Tope

Young

et al.

Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol 2002; 47(2 Suppl): S196–S200.

Flores-Sarnat

. Hemimegalencephaly. I. Genetic, clinical, and imaging aspects. J Child Neurol 2002; 17: 373–384.

Nakahashi

Sato

Yagishita

et al.

Clinical and imaging characteristics of localized megalencephaly: A retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. Neuroradiology 2009; 51: 821–830.

D'Agostino

Bastos

Piras

et al.

Posterior quadrantic dysplasia or hemi-hemimegalencephaly: A characteristic brain malformation. Neurology 2004; 62: 2214–2220.

Raghavendra

Chaitanya

Goutham

et al.

Sub-lobar dysplasia—A comprehensive evaluation with neuroimaging, magnetoencephalography and histopathology. Epilepsy Behav Case Rep 2017; 9: 22–25.

Barkovich

Peacock

. Sublobar dysplasia: A new malformation of cortical development. Neurology 1998; 50: 1383–1387.

10.

Sarnat

Flores-Sarnat

. Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma. Brain Dev 2015; 37: 553–562.

11.

D'Gama

Geng

Couto

et al.

mTOR pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol 2015; 77: 720–725.

12.

Boppudi

Bögershausen

Hove

et al.

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin Genet 2016; 90: 334–342.

13.

Waelchli

Aylett

Atherton

et al.

Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome. Br J Dermatol 2015; 173: 739–750.