Syndrome revisited: an image quiz
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Hellenic Journal of Surgery (2015) 87:3, 285-286
Syndrome Revisited: an Image Quiz Nikhil Gupta, Shashank Aroor, Vivek Agarwal
A 22-year-old male with a history of recurrent seizures on treatment since childhood and normal milestones, presented with swelling in the left lumbar region as shown
Nikhil Gupta MS, MRCSEd, FAIS, FMAS, FIAGES, MNAMS Assistant Professor, Department of Surgery, University College of Medical Sciences, Delhi, India Shashank Aroor Registrar, Department of Surgery, University College of Medical Sciences, Delhi, India Vivek Agarwal Director-Professor, Department of Surgery, University College of Medical Sciences, Delhi, India Corresponding author: Dr Nikhil Gupta B 406 Panchsheel Apartments, Plot 9, Sec 10, Dwarka, Delhi-1110075, India e mail: [email protected] Received 23 Jan 2015; Accepted 3 Mar 2015
Hellenic Journal of Surgery 87
in figure 1. The swelling was subcutaneous, firm and was non-compressible. The patient also had multiple hyperpigmented lesions as shown in figure 2.
Question 1: What is the diagnosis? Question 2: What are the criteria for clinical diagnosis of this disease?
286 Nikhil Gupta et al.
Answer 1: Neurofibromatosis 1 Answer 2: Neurocutaneous syndromes (phakomatosis) represent a group of central nervous system disorders associated 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. Neurofibromatosis 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 café au lait spots or hyperpigmented macules 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 NF1 Our patient had café au lait spots and plexiform neurofibroma of lumbar region which was confirmed by histopathology. 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-
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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 nod
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