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Letter to the Editor
38 (
2
); 55-56
doi:
10.25259/KPJ_14_2023

Hemihypertrophy with hemimegalencephaly associated with type 1b (broad pattern) pigmentary mosaicism

Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
Corresponding author: Vykuntaraju K. Gowda, Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India. drknvraju08@gmail.com
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This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Gowda VK, Raj KA, Srinivas S. Hemihypertrophy with hemimegalencephaly associated with type 1b (broad pattern) pigmentary mosaicism. Karnataka Paediatr J 2023;38:55-6.

Dear Editor,

Pigmentary mosaicism represents patterns of pigmentation in the skin and is observed with the defects of the neurological and musculoskeletal systems.[1] Hemimegalencephaly is the enlargement of one hemisphere of the brain that may occur with neurocutaneous syndromes.[2] A 2.5-year-old girl presented with developmental delay and right focal seizures from 7 months of age. On examination, she was found to have normal head circumference (47 cm), multiple hypopigmented streaky macules along the lines of Blaschko-type 1b: Broad pattern on the trunk and upper and lower limbs, hypertrophy of the right upper and lower limb [Figure 1]. The magnetic resonance imaging brain showed left hemimegalencephaly [Figure 2].

Figure 1:
Multiple streaks of hypopigmentation along the lines of Blashcko present on the trunk, upper and lower limbs (arrows).
Figure 2:
Brain magnetic resonance imaging-T2W (a) and fluid-attenuated inversion recovery (b) showing hypertrophy of the left cerebral hemisphere (arrows).

Hemimegalencephaly with skin lesions is also seen in linear epidermal nevus syndrome, neurofibromatosis, Proteus syndrome, and Klippel–Trenaunay syndrome. The classical cutaneous lesions along Blaschko lines are helpful to differentiate them. Pigmentary mosaicism should be suspected in any child presenting with refractory focal seizures, hemihypertrophy with classical skin findings and hemimegalencephaly.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Conflicts of interest

There are no conflicts of interest.

Financial support and sponsorship

Nil.

References

  1. , , , , . Pigmentary mosaicism: A review of original literature and recommendations for future handling. Orphanet J Rare Dis. 2018;13:39.
    [CrossRef] [PubMed] [Google Scholar]
  2. . Hypomelanosis of ito with partial motor seizure and hemimegaloencephaly: Case report. Open Access J Neurol Neurosurg. 2017;2:36-9.
    [CrossRef] [Google Scholar]

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