Syndrome revisited: an image quiz

Neurocutaneous syndromes (phakomatosis) represent a group of central nervous system disorders associ-ated with lesions in the skin, eye, and possibly other visceral organs. They include Neurofibromatosis 1 and 2, Tuberous sclerosis complex, and Sturge-Weber Syndrome [1].Neurofibromatosis is an autosomal dominant disorder with variable penetrance and varied presentation. Neurofi-bromatosis is further divided into NF1 and NF 2 based on genetic and specific features. Neurofibromatosis 1 is more common. Clinical diagnosis of neurofibromatosis 1 requires the presence of at least two of the following seven criteria [2]:Six or more cafe au lait spots or hyperpigmented mac-ules greater than or equal to 5 mm in diameter in children younger than 10 years and equal to 15 mm in adults • Axillary or inguinal freckles• Two or more typical neurofibromas or one plexiform neurofibroma• Optic nerve glioma• Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination.• Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis• First-degree relative (eg, mother, father, sister, brother) with NF1Our patient had cafe au lait spots and plexiform neu-rofibroma of lumbar region which was confirmed by histo-pathology. The next best step in diagnosis would be to use slit lamp examination as lisch nodules are pathognomonic of NF1. NF 1 can be differentiated from NF 2 by the presence of bilateral acoustic schwannoma. Pure tone audiometry would help in identifying lesions in NF2 rather NF1.Tuberous sclerosis (Bournveville’s disease) is character -ized by hamartoma of many organs, including the skin, brain, eyes and kidney. It is manifested by the clinical triad of seizure, mental retardation and adenoma sebaceum. MRI of the brain would be useful in detecting subependymal nodule(tuber). Intracerebral calcification are the most common and pathognomonic findings in tuberous scle-rosis. Hence MRI/CT of the brain would be used in cases of tuberous sclerosis [3].Sturge-Weber Syndrome presents with a typical ipsilat-eral port wine facial nevus in the distribution of trigeminal nerve (V1) with neurological features.