PICTURE OF THE MONTH

Pentapathology in Neurofibromatosis 1

Kanwaljeet Garg & Hitesh Kumar Gurjar &

P. Sarat Chandra & Bhawani Shankar Sharma

Received: 22 August 2013 /Accepted: 7 October 2013# Dr. K C Chaudhuri Foundation 2013

Neurofibromatosis type 1 (NF1), formerly known as vonRecklinghausen disease after the researcher (Friedrich Danielvon Recklinghausen) [1], is inherited as autosomal dominantvariant. The incidence of NF-1 is about 1 in 3,500 live births.Every organ system can virtually be affected in this condition.

The authors report an interesting image of a child with manymanifestations of the disease.

A 6-y-old boy presented to authors’ department with com-plaints of progressive painless diminution of vision in botheyes with hemiparesis. On examination he had multiple café

Fig. 1 a . Multiple café-au-laitmacules, b . MRI coronal sectionshowing right parasellar massextending from hypothalamus tothalamic region with rightinfratemporal plexiformneurofibroma, c . Axial sectionshowing hypothalamic lesioncausing compression over ventralaspect of brain stem, d . Sagittalsection showing hypothalamicglioma with ‘UBO’

K. Garg :H. K. Gurjar (*) : P. S. Chandra : B. S. SharmaDepartment of Neurosurgery, All India Institute of Medical Sciences,Ansari Nagar, New Delhi 110029, Indiae-mail: hiteshgurjar@gmail.com

Indian J PediatrDOI 10.1007/s12098-013-1270-x

au lait spots all over his body (Fig. 1a). There were multiplesubcutaneous swellings over his limbs and back, suggestive ofneurofibromas. There was swelling in right infra temporalfossa extending to hemiface. MRI revealed large plexiformneurofibroma in the right infratemporal fossa, bilateral opticnerve glioma and “hamartoma” (unidentified bright object) inhypothalamic region on T2 weighted images (Fig. 1b, c, d).

NF 1 is the most common inherited single gene disorder.NF-1 is caused by a mutation of a gene on the long arm ofchromosome 17 which encodes a protein known asneurofibromin, which plays a role in intracellular signaling[1]. The mutant gene is transmitted with an autosomal dom-inant pattern of inheritance, but up to 50% of NF-1 cases arisedue to spontaneous mutation. Distinctive features of the dis-ease are café-au-lait macules, neurofibromas [2] or plexiformneurofibroma, freckling in the axillary or inguinal region,Lisch nodules (iris hamartomas), sphenoid dysplasia or thin-ning of the long bone cortex with or without pseudarthrosis.

NF1 patients have predisposition for glial tumors like opticnerve gliomas or astrocytomas. One typical MRI finding inNF1 is “UBO” or “unidentified bright object”. These UBOsare hyperintense lesions on T2, found in the cerebellar pedun-cles, pons, midbrain, globus pallidus, thalamus, and opticradiations, which eventually disappear without any treatment.

Conflict of Interest None.

Role of Funding source None.

References

1. Brosius S. A history of von Racklingausen’s disease. J Hist Neurosci.2010;19:333–48.

2. Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, PeiperM, et al. Neurofibromatosis. Eur J Med Res. 2009;14:102–5.

Indian J Pediatr