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Year : 2018  |  Volume : 19  |  Issue : 3  |  Page : 263-265

A child with multiple café au lait macules: Rare presentation of plexiform neurofibromatosis with facial dysmorphism, alopecia, proptosis, stridor, and limb length discrepancy

1 Department of Pediatric Medicine, Institute of Child Health, Kolkata, West Bengal, India
2 Department of Pediatric Dermatology, Institute of Child Health, Kolkata, West Bengal, India

Correspondence Address:
Dr. Aniruddha Ghosh
Department of Pediatric Medicine, Institute of Child Health, No. 11, Dr. Biresh Guha Street, Kolkata - 700 017, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_12_17

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Multiple café au lait macules are one of the cornerstones in diagnosing neurofibromatosis Type 1 (NF 1). NF 1 is often a multisystem neurocutaneous disorder, plexiform NF being one of the most important variants of this phacomatosis. Here, a rare case of a 2.5-year-old male child without positive family history has been described who presented with multiple large café au lait spots, alopecia, dysmorphic facies, proptosis, protrusion and deviation of tongue, biphasic stridor, bilateral neck swelling, and abnormal gait due to foreshortened left leg. Magnetic resonance imaging revealed abnormal soft-tissue infiltration of cavernous sinus through sphenoid bone, retro-orbital, retropharyngeal, parapharyngeal spaces, floor of mouth, and encasement of unilateral neck vessels and compression over trachea. Indirect laryngoscopy revealed unilateral vocal cord palsy most likely due to recurrent laryngeal nerve involvement. Biopsy confirmed the diagnosis of NF. Pediatricians and dermatologists should be aware of syndromic causes and their varied presentations while encountering a child with multiple large café au lait spots.

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