Case 9084

Atypical craniofacial neurofibromatosis-1

Arora A*, Jain S, Kapoor A, Singh S, Upreti L, Puri SK

*Department of Radiodiagnosis, I.L.B.S Hospital, Vasant Kunj, New Delhi, India

Department of Radiodiagnosis, G.B. Pant Hospital, New Delhi, India.
INSTITUTE OF LIVER & BILIARY SCIENCES

Section: Paediatric Radiology

Published: 2011, Jul. 14
Patient: 8 year(s), male

Clinical History
An 8-year-old male patient presented with gradually progressive facial and skull deformity on the
right side which had grown to the present size at a very slow pace over the past many years. On
examination multiple dark spots were seen on his torso.

Imaging Findings
Axial CT images reveal enlargement of the middle cranial fossa on the right side with dysplastic
ipsilateral temporal and sphenoid bones. Abnormal asymmetric enlargement of the right eye globe
is also seen (buphthalmos). There is an associated soft tissue lesion in the ipsilateral superficial
temporal fossa contiguously extending into the upper eyelid representing a plexiform neurofibroma.
CT findings are consistent with craniofacial neurofibromatosis type-I (NF-1).

Discussion
Neurofibromatosis type 1 (NF1) is the commonest phakomatosis with a reported incidence of one in
2, 000 live births. It is an autosomal dominant disorder; however, up to 50% of cases occur
sporadically due to spontaneous mutation. At least two or more of the following NIH criterion need
to be met for its diagnosis: (a) A first degree relative with NF-1; (b) Six-or-more café au lait spots;
(c) Optic glioma; (d) Two or more pigmented iris hamartoma; (e) Sphenoid wing dysplasia; (f)
 Axillary or inguinal freckling; and (e) Two or more neurofibromas or a plexiform neurofibroma.

Although up to 25% of patients have head and neck manifestations, the orbital-facial manifestations
are relatively rare [1]. These cosmetically disfiguring manifestations may be due to either one or a
combination of disease processes that include plexiform neurofibromatosis (PNF), orbital osseous
dysplasia, orbital neoplasms, and congenital glaucoma (buphthalmos). Buphthalmos i.e. globe
enlargement secondary to raised intraocular pressure due to obstructed aqueous outflow is seen at
CT as an overall globe enlargement in all dimensions as compared to the normal contralateral globe
[6]. Plexiform neurofibroma, a hallmark of NF-1, can involve the orbit, temporal region and/ or the
face and is often the first symptom appearing in infancy [2, 4]. It can involve any motor or sensory
nerve, sympathetic or parasympathetic nerves of the head and neck. The first division of the
trigeminal nerve at the orbital apex is most frequently involved. At CT or MRI, it is seen as an
enhancing, irregular soft-tissue lesion that enlarges and deforms the muscular anatomy of the
temporalis fossa, eyelid, and recti of the orbit [6]. The tumours can affect nearby bones and invade
almost all of the orbital structures. Sphenoid wing dysplasia is a classic bone lesion of NF-1 seen in
5-10% of patients which can permit herniation of the temporal lobe into the orbit, resulting in
pulsatile exophthalmos. The 'bare-orbit' sign on a skull radiograph is its characteristic radiological
manifestation owing to the absence of the innominate line, which is the projection of the greater
wing of the sphenoid bone on a frontal skull radiograph [5]. The osseous lesions of NF1 are
conventionally believed to be 'dysplasia', i.e. primary bone defect, however, recent reports have
postulated that these could be 'secondary' to the presence of an adjacent plexiform neurofibroma or
other ocular neoplasms such as schwannoma, optic nerve glioma and neurofibromas which are
common lesions seen in NF-1 [3].

The present case highlights some of the typical manifestations of NF-1, including buphthalmos,
plexiform neurofibroma, ipsilateral skeletal dysplasia and an enlarged ipsilateral middle cranial
fossa. However, in contrast to the typically described sphenoid wing dysplasia of NF-1, the present
case shows an atypical involvement predominantly of the right temporal bone with relatively less
involved adjacent sphenoid wing. Unlike the classical intra-orbital herniation of temporal lobe
described in literature, the present case shows predominantly lateral herniation of the temporal lobe
into a deformed and convex outwardly bulged right temporal bone.

Final Diagnosis
Craniofacial neurofibromatosis type 1

Differential Diagnosis List

Soft tissue haemangioma (plexiform neurofibroma), Prior osseous trauma (skeletal dysplasia)

Figures

Figure 1 Axial noncontrast CT of head

 Axial CT images reveal enlargement of the right middle cranial fossa with dysplastic
ipsilateral temporal and sphenoid bones.

Area of Interest: Neuroradiology brain;

Figure 2 Axial noncontrast head CT

Dysplastic right side calvarial bones are associated with right middle cranial fossa
enlargement. Right peri-sylvian subarachnoid CSF-spaces appear prominent.

Area of Interest: Neuroradiology brain;

Figure 3 Axial noncontrast CT of the head

Asymmetric enlargement of the right ocular globe (buphthalmos) is associated with a

superficial soft tissue lesion along the ipsilateral superficial temporal fossa contiguously
extending into the eyelid representing a plexiform neurofibroma.

Area of Interest: Neuroradiology brain;

Figure 4 Coronal CT head (bone window)

 Right temporo-sphenoidal osseous dysplasia is well seen on this coronal bone window CT.

Area of Interest: Neuroradiology brain;

MeSH
Neurofibromatosis 1 [C10.562.600.500]
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that
features developmental changes in the nervous system, muscles, bones, and skin, most notably in
tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and
subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system
neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA.
NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1)
on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From
Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with
NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the
PTPN11 and NF1 (GENES, NF1) gene products are involved in the SIGNAL TRANSDUCTION
pathway of Ras (RAS PROTEINS).

References
[1] Erb MH, Uzcategui N, See RF, Burnstine MA (2007) Orbitotemporal neurofibromatosis:
classification and treatment Orbit 26:223-8

[2] Rilliet B, Pittet B, Montandon D, Narata AP, de Ribaupierre S, Schils F, Boscherini D, Di

Rocco C, Ducrey N (2010) [Orbitotemporal facial involvement in type 1 neurofibromatosis (NF1)]
Neurochirurgie 56:257-70

[3] Jacquemin C, Bosley TM, Svedberg H (2003) Orbit Deformities in Craniofacial

Neurofibromatosis Type 1 AJNR Am J Neuroradiol 24:1678-82
 [4] Friedrich RE, Stelljes C, Hagel C, Giese M, Scheuer HA (2010) Dysplasia of the orbit and
adjacent bone associated with plexiform neurofibroma and ocular disease in 42 NF-1 patients
Anticancer Res 30:1751-64

[5] Govind B Chavhan, Manohar M Shroff (2009) Twenty classic signs in neuroradiology: A
pictorial essay Indian J Radiol Imaging 19:135-145

[6] Zimmerman RA, Bilaniuk LT, Metzger RA, Grossman RI, Schut L, Bruce DA (1983)
Computed tomography of orbitalfacial neurofibromatosis Radiology 146:113-6

Citation
Arora A*, Jain S, Kapoor A, Singh S, Upreti L, Puri SK

*Department of Radiodiagnosis, I.L.B.S Hospital, Vasant Kunj, New Delhi, India

Department of Radiodiagnosis, G.B. Pant Hospital, New Delhi, India. (2011, Jul. 14)
Atypical craniofacial neurofibromatosis-1 {Online}
URL: http://www.eurorad.org/case.php?id=9084