Hemimegalencephaly with Pigmentary mosaicism

Abstract

Introduction: Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells with an altered ability to produce melanin. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and musculoskeletal system. Clinical features include early onset focal seizures (arising from the dysplastic hemisphere), hemiparesis, and hemianopia. We are reporting a case of Type 1b (broad pattern) Pigmentary Mosaicism with Hemi-megalencephaly.
Case: A 2.5year-old girl born of a non-consanguineous marriage with normal birth history, presented with developmental delay and right focal seizures from 7 months of age. Anthropometry showed weight-11.35kg(<3rd centile), head circumference-47cm(on -0.65 SD). General examination showed frontal bossing, and multiple hypopigmented streaky macules along the Blaschko’s lines(type 1b: broad pattern) on the trunk and upper and lower limbs. Ophthalmological examination showed a bilateral brown iris with a hyperpigmented area in the right iris and non-paralytic strabismus. Neurological examination revealed, autistic features, decreased tone in all limbs, power <3/5 (right power < left power), brisk reflexes, and extensor plantar. Neuroimaging of the brain showed left Hemi-megalencephaly. Electroencephalogram (EEG) showed localization-related epilepsy from the left temporo-occipital region. Diagnosis of the broad pattern (type 1b) of pigmentary mosaicism associated with left Hemi-megalencephaly, was made. The child was managed with anti-seizure medications and risperidone for behavioral issues, and rehabilitation.
Conclusion: We should keep in mind that, in the presence of pigmentary mosaicism spectrum at birth we should screen for structural brain abnormalities.

Full text

•
      
       

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A010: Case of Le Hemimegalencephaly associated with
Type 1b (broad paern) Pigmentary Mosaicism
Anusha Raj K1, Vykuntaraju K Gowda1, Sahana M Srinivas2
#()*((
+,'-
. */       
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1
Anthropometry:  ##2/$32 % 
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General examina/on:  
-$#8
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
Ophthalmological examina/on:   
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Neurological examina/on:  
329/$
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REFERENCES: #%<.-=>-.<&8
Orphanet J Rare Dis*5#?@#2$#%82A
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•Electroencephalogram(EEG): 0 
: 
•MRI Brain: :
• & 0

Introduc/on
Case
Inves/ga/ons and Treatment
Discussion and Conclusion
• '      
     
     0 

•        
     

•We should keep in mind that, in presence of
pigmentary mosaicism spectrum at birth we should
screen for structural brain abnormali/es.
• '      
     
     0 

•        
     

•We should keep in mind that, in presence of
pigmentary mosaicism spectrum at birth we should
screen for structural brain abnormali/es.