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Year : 2016  |  Volume : 17  |  Issue : 2  |  Page : 132-134

A rare association of congenital melanocytic nevus and lissencephaly in childhood seizure

1 Department of Dermatology, Venereology and Leprology, Government Medical College, Kota, Rajasthan, India
2 Department of Radiodiagnosis, Government Medical College, Kota, Rajasthan, India

Date of Web Publication30-Mar-2016

Correspondence Address:
Sarita Kalwaniya
Mirdha Nagar, Didwana Road, Kuchaman City, Nagaur - 341 508, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.175655

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Dermatological and imaging evaluation of a 2-year-old male child with refractory seizures and developmental delay revealed an interesting and first of its kind association of congenital melanocytic nevus and classical lissencephaly.

Keywords: Lissencephaly, melanocytic nevus, seizure

How to cite this article:
Kalwaniya S, Choudhary P, Khokhar HV, Yadav D. A rare association of congenital melanocytic nevus and lissencephaly in childhood seizure. Indian J Paediatr Dermatol 2016;17:132-4

How to cite this URL:
Kalwaniya S, Choudhary P, Khokhar HV, Yadav D. A rare association of congenital melanocytic nevus and lissencephaly in childhood seizure. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Oct 30];17:132-4. Available from: https://www.ijpd.in/text.asp?2016/17/2/132/175655

  Introduction Top

Congenital melanocytic nevus (CMN) affects 1–6% of neonates.[1] Its association is described with neurocutaneous melanosis (NCM) as well as various nonmelanocytic structural and developmental anomalies of the brain.[2] We describe an extremely rare association of lissencephaly with CMN without any NCM in a 2-year-old male child with refractory seizures and developmental delay.

  Case Report Top

A 2-year-old male child presented with repeated episodes of seizure attacks for last six months. Anticonvulsive therapy was initiated with only partial response. The patient was born via full term normal vaginal delivery of nonconsanguineous marriage. At the time of birth, his Apgar score was low (5 and eight at 1 min and 5 min, respectively), and a single episode of neonatal seizure was documented. Also, the parents gave the history of delayed developmental milestones and a pigmented patch over the right knee since birth. Pigmented patch increased with the patient age without any change in color or texture. No similar history was noted in the parents and elder male sibling. On general physical examination, a 10.2 cm × 6.5 cm sized oval shaped brown colored nevus with the well-defined border was seen in anteromedial aspect of the right knee [Figure 1]. No increased density of hair was seen at the site. On motor examination, the patient was partially holding his neck and was able to stand with support. The patient was able to wobble only. Sleep electroencephalography record revealed the features of generalized tonic-clonic seizure. Contrast enhanced computed tomography as well as magnetic resonance imaging (MRI) of head [Figure 2] revealed the thick cortical mantle with decreased white matter causing the reversal of gray to white matter ratio, smooth cortex, and shallow vertical sylvian fissures that were open superficially, colpocephaly (posterior enlargement of the lateral ventricles with a figure of eight appearance), and absence of white-gray interdigitations. No abnormal leptomeningeal enhancement was noted. Complete evaluation of congenital TORCH infection by ELISA and chromosomal analysis were normal. Biopsy evaluation of the skin lesion was not possible due to denial by the parents. The final diagnosis of CMN with classical lissencephaly was made based on the workup.
Figure 1: (a and b) Oval shaped brown colored melanocytic nevus with well-defined border in anteromedial aspect of right knee

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Figure 2: Axial contrast enhanced computerized tomography (a), axial T1-weighted (b) and T2-weighted (c) magnetic resonance imaging with coronal gray matter specific sequence (d) show absence of well-formed sulci with a thick cortex, a shallow sylvian fissure, and a circumferential band of high signal intensity in the parietooccipital cortex (c)

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  Discussion Top

CMN differs from acquired melanocytic nevus by its presence at birth, the tendency for a larger size, and a greater malignant potential. CMN are divided into three groups based on the largest diameter in adulthood: (1) Small, <1.5 cm; (2) medium, 1.5–20 cm; and (3) large (giant), exceeding 20 cm. Category three roughly corresponds to sizes larger than 9 cm on the scalp and larger than 6 cm in the body of a neonate.[1]

CMN may be associated with the increased number of melanocytes in the central nervous system (CNS) with or without hydrocephalus termed as NCM, or it can be associated with a variety of nonmelanocytic anomalies of the CNS, including Dandy–Walker malformation, encephalocoele, inferior vermian hypoplasia, multiple meningiomas, partial agenesis of the right parietal lobe, middle cranial fossa arachnoid cyst, and Chiari type I malformation.[2] NCM is almost always associated with giant melanocytic nevi on the head, neck, or dorsal spine and characterized by typical MRI appearance on T1-weighted (T1W) images, T2-weighted and postgadolinium T1W.[3] Takano et al. have described a neonatal case of provisional NCM with lissencephaly.[4] In the absence of risk factors and characteristic MRI findings, we excluded the possibility of NCM in our case.

Lissencephaly is a rare cause of severe epilepsy, mental retardation, and early death although many patients can survive into adulthood. Lissencephaly may occur in isolation or as part of other syndromes. The patients with classic lissencephaly (type I) may have a smooth brain surface in the complete form, or more commonly, they have a smooth surface with some gyral formation along the inferior frontal and temporal lobes in the incomplete form. Cobblestone lissencephaly (type II) is characterized by a nodular brain surface.[5],[6]

To the best of our knowledge, our case is first one in literature to describe the association of congenital melanocytic nevus with lissencephaly without any NCM. This association may probably be due to the fact that both are migrational anomalies. CMN is caused by malformations of the neuroectoderm and occasionally neural elements, following de-regulated growth and arrest of melanocytes during the migration from the neural crest to the skin whereas lissencephaly occurs due to the defect in radial as well as nonradial neural cell migration in brain.[7],[8]

  Conclusion Top

Although extremely rare, lissencephaly should be kept in the differential diagnosis in the patient with congenital melanocytic nevus and seizures.

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Conflicts of Interest

There are no conflicts of interest.

  References Top

Price HN, Schaffer JV. Congenital melanocytic nevi-when to worry and how to treat: Facts and controversies. Clin Dermatol 2010;28:293-302.  Back to cited text no. 1
Ahuja SR, Karande S, Kulkarni MV. Multiple giant congenital melanocytic nevi with central nervous system melanosis. Neurol India 2003;51:541-3.  Back to cited text no. 2
  Medknow Journal  
Kinsler VA, Aylett SE, Coley SC, Chong WK, Atherton DJ. Central nervous system imaging and congenital melanocytic naevi. Arch Dis Child 2001;84:152-5.  Back to cited text no. 3
Takano T, Morimoto M, Sakaue Y, Takeuchi Y, Aotani H, Ohno M. Large congenital melanocytic nevi presenting with lissencephaly with an absent corpus callosum. Congenit Anom (Kyoto) 2008;48:97-100.  Back to cited text no. 4
Andrade CS, Leite Cda C. Malformations of cortical development: current concepts and advanced neuroimaging review. Arq Neuropsiquiatr 2011;69:130-8.  Back to cited text no. 5
Abdel Razek AA, Kandell AY, Elsorogy LG, Elmongy A, Basett AA. Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol 2009;30:4-11.  Back to cited text no. 6
Imchen S, Ghosh S, Dayal S, Marwah N, Jindal N, Sangal S. Giant congenital melanocytic nevus with developmental dysplasia of bilateral hip: A rare association. Indian J Dermatol 2013;58:475-7.  Back to cited text no. 7
[PUBMED]  Medknow Journal  
McManus MF, Golden JA. Neuronal migration in developmental disorders. J Child Neurol 2005;20:280-6.  Back to cited text no. 8


  [Figure 1], [Figure 2]

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