Incontinentia Pigmenti with Spastic Cerebral Palsy: A Case Report
Journal Title: Journal of Medical Science And clinical Research - Year 2015, Vol 3, Issue 1
Abstract
Incontinentia Pigmenti (IP) or Bloch-Sulzberger syndrome is an uncommon X-linked dominant disorder that affects mostly females and is usually lethal in males. It is associated with skin (100%), dental (90%), skeletal (40%), central nervous system (40%), and ocular (35%) abnormalities. We report a florid case of a 9-year-old female who presented with convulsion and inflammatory vesicular skin lesion soon after birth which evolved into hyper-pigmented lesions along the lines of Blaschko over trunk, upper and lower extremities. Her teeth were peg-shaped and the skeletal examination confirmed scoliosis and hypoplastic mandible. She had quadriplegic spastic cerebral palsy, microcephaly with global developmental delay and mental retardation. Ocular examination revealed hypertelorism with micro-ophthalmia of left eye. She also had avascularity of left peripheral retina. On further investigation, MRI revealed gliotic areas in frontal and parietal region suggestive of microvascular vaso-occlusive insult. Histopathology of skin demonstrated pigment incontinence in upper dermis consistent with the diagnosis. Our patient had sporadic mutation as mother and sibling were normal. We report this case because of its rarity.
Authors and Affiliations
Anand Bhattar
Keywords
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