m e d i c a l j o u r n a l a r m e d f o r c e s i n d i a 6 8 ( 2 0 1 2 ) 3 1 0 e3 1 1
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Answer to radiological quiz
Diagnosis: Von Recklinghausen disease (NF1) Fig. 1a shows squint and Cafe´-au-lait spots are seen in Fig. 1b and c. MR axial IR image (Fig. 2a) shows bilateral tortuous and enlarged optic nerves. Coronal T2 W MR image (Fig. 2b) shows abnormal hyperintense signal in bilateral gangliocapsular region and along optic tracts. Further MRI contrast study was done which showed enhancement of the enlarged & tortuous optic nerves. The nerves were enlarged throughout its extent & measured 9e10 mm in all its extent upto the optic chiasma (Fig. 3a and b). On post contrast study there was enhancement of the bilateral optic nerves seen upto the optic chiasma (Fig. 4a and b). No significant enhancement was seen in the parenchymal signal abnormalities. Based on clinical and radiological findings, diagnosis of Von Recklinghausen disease (neurofibromatosis I) was given. This diagnosis was made as there were 2 signs that were fulfilled as per National Institutes of Health (NIH) consensus diagnostic criteria.1,2
Discussion The National Institutes of Health (NIH), through its consensus panels, has defined two distinct inherited nerve sheath disorders, neurofibromatosis type 1 and neurofibromatosis type 2 (NF2).1,2
More than half of all the patients with probable NF1 have abnormal neuroimaging of brain and/or orbit.3 Both hamartomatous and neoplastic lesions occur, including optic nerve and parenchymal gliomas and multifocal signal changes increased on T2 W images in brainstem, cerebellar white matter, dentate nucleus, basal ganglia, periventricular white matter, optic nerve and optic pathways. These hyperintensities represent either abnormal myelination or hamartomatous change.4,5 The presence of bilateral optic nerve gliomas is considered specific for NF1.6 The National institutes of health (NIH) Consensus Development Conference criteria for the diagnosis of NF1 are met in an individual if 2 or more of the following signs are found: Six or more cafe´ au lait macules larger than 5 mm in the greatest diameter in prepubertal children and larger than 1.5 cm in postpubertal individuals. Two or more neurofibromas of any type or 1 plexiform neurofibroma. Multiple freckles (Crowe sign) in the axillary or inguinal region. A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis.
Fig. 3 e Oblique sagittal image showing (a) right and (b) left tortuous and enlarged optic nerves. 0377-1237/$ e see front matter ª 2012, Armed Forces Medical Services (AFMS). All rights reserved. doi:10.1016/j.mjafi.2012.06.001
m e d i c a l j o u r n a l a r m e d f o r c e s i n d i a 6 8 ( 2 0 1 2 ) 3 1 0 e3 1 1
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Fig. 4 e (a) Axial post contrast T1 W images showing enlarged enhancing optic chiasma. (b) Axial post contrast T1 W images showing bilateral tortuous and enlarged enhancing optic nerves.
Optic glioma. Two or more iris hamartomas (Lisch nodules) seen on slit lamp or biomicroscopy examination. A first-degree relative (parent, sibling, offspring) with NF1, as diagnosed by using the above criteria.
references
1. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development conference. Arch Neurology; 1988.
2. Mulvhill JJ. Moderator. Neurofibromatosis I (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med. 1990;113:39e52. 3. Dimario FJ, Ramsby G, Greenstein R, et al. Neurofibromatosis type 1: magnetic resonance imaging findings. J Child Neural. 1993;8:32e39. 4. Aoki S, Barkovic AJ, Nishimura K, et al. Neurofibromatosis types-1 and type-2: cranial MR findings. Radiology. 1989;172:527e534. 5. Russell DS, Rubinstein LJ. Dysgenetic syndromes (phakomatoses) associated with tumors and hamartomas of the nervous system. In: Pathology of Tumors of the Nervous System. Baltimore: Williams and Wilkins; 1989:0766e784. 6. Imes RK, Hoyt WF. Magnetic resonance imaging signs of optic nerve gliomas in neurofibromatosis 1. American J Ophthalmology. 1991;111:729e734.
Available online at www.sciencedirect.com
j o u r n a l h o m e p a g e : w w w . e l s e v i e r . c o m / l o c a t e / m j a fi
Answer to radiological quiz
Diagnosis: Von Recklinghausen disease (NF1) Fig. 1a shows squint and Cafe´-au-lait spots are seen in Fig. 1b and c. MR axial IR image (Fig. 2a) shows bilateral tortuous and enlarged optic nerves. Coronal T2 W MR image (Fig. 2b) shows abnormal hyperintense signal in bilateral gangliocapsular region and along optic tracts. Further MRI contrast study was done which showed enhancement of the enlarged & tortuous optic nerves. The nerves were enlarged throughout its extent & measured 9e10 mm in all its extent upto the optic chiasma (Fig. 3a and b). On post contrast study there was enhancement of the bilateral optic nerves seen upto the optic chiasma (Fig. 4a and b). No significant enhancement was seen in the parenchymal signal abnormalities. Based on clinical and radiological findings, diagnosis of Von Recklinghausen disease (neurofibromatosis I) was given. This diagnosis was made as there were 2 signs that were fulfilled as per National Institutes of Health (NIH) consensus diagnostic criteria.1,2
Discussion The National Institutes of Health (NIH), through its consensus panels, has defined two distinct inherited nerve sheath disorders, neurofibromatosis type 1 and neurofibromatosis type 2 (NF2).1,2
More than half of all the patients with probable NF1 have abnormal neuroimaging of brain and/or orbit.3 Both hamartomatous and neoplastic lesions occur, including optic nerve and parenchymal gliomas and multifocal signal changes increased on T2 W images in brainstem, cerebellar white matter, dentate nucleus, basal ganglia, periventricular white matter, optic nerve and optic pathways. These hyperintensities represent either abnormal myelination or hamartomatous change.4,5 The presence of bilateral optic nerve gliomas is considered specific for NF1.6 The National institutes of health (NIH) Consensus Development Conference criteria for the diagnosis of NF1 are met in an individual if 2 or more of the following signs are found: Six or more cafe´ au lait macules larger than 5 mm in the greatest diameter in prepubertal children and larger than 1.5 cm in postpubertal individuals. Two or more neurofibromas of any type or 1 plexiform neurofibroma. Multiple freckles (Crowe sign) in the axillary or inguinal region. A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis.
Fig. 3 e Oblique sagittal image showing (a) right and (b) left tortuous and enlarged optic nerves. 0377-1237/$ e see front matter ª 2012, Armed Forces Medical Services (AFMS). All rights reserved. doi:10.1016/j.mjafi.2012.06.001
m e d i c a l j o u r n a l a r m e d f o r c e s i n d i a 6 8 ( 2 0 1 2 ) 3 1 0 e3 1 1
311
Fig. 4 e (a) Axial post contrast T1 W images showing enlarged enhancing optic chiasma. (b) Axial post contrast T1 W images showing bilateral tortuous and enlarged enhancing optic nerves.
Optic glioma. Two or more iris hamartomas (Lisch nodules) seen on slit lamp or biomicroscopy examination. A first-degree relative (parent, sibling, offspring) with NF1, as diagnosed by using the above criteria.
references
1. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development conference. Arch Neurology; 1988.
2. Mulvhill JJ. Moderator. Neurofibromatosis I (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med. 1990;113:39e52. 3. Dimario FJ, Ramsby G, Greenstein R, et al. Neurofibromatosis type 1: magnetic resonance imaging findings. J Child Neural. 1993;8:32e39. 4. Aoki S, Barkovic AJ, Nishimura K, et al. Neurofibromatosis types-1 and type-2: cranial MR findings. Radiology. 1989;172:527e534. 5. Russell DS, Rubinstein LJ. Dysgenetic syndromes (phakomatoses) associated with tumors and hamartomas of the nervous system. In: Pathology of Tumors of the Nervous System. Baltimore: Williams and Wilkins; 1989:0766e784. 6. Imes RK, Hoyt WF. Magnetic resonance imaging signs of optic nerve gliomas in neurofibromatosis 1. American J Ophthalmology. 1991;111:729e734.
