The surgical management of childhood orbito-temporal neurofibromatosis q
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1 The British Association of Plastic Surgeons (2003) 56, The surgical management of childhood orbito-temporal neurofibromatosis q Vickie Lee, Nicola K. Ragge, J. Richard O. Collin* Oculoplastic Service, Moorfields Eye Hospital, City Road, London, UK Received 23 July 2002; accepted 6 May 2003 KEYWORDS Neurofibromatosis; Neurofibroma; Facial harmatoma; Orbitotemporal; Orbitopalpebral; Orbitofacial Summary Purpose. (1) To describe the natural history, changing manifestations and new signs of orbito-temporal neurofibromatosis (NF) during childhood and puberty. (2) To describe the surgical treatment and recommend guidelines for management of this condition in children compared to adults. Methods. Retrospective case note and serial photographic review Results. There were 9 patients (5M, 4F) with orbito-temporal NF who were children (, 16 years) at the time of first presentation with a minimum of 5 years follow up. All the patients had unilateral periorbital neurofibromatosis with blepharoptosis, orbital enlargement and hypoglobus. All nine patients underwent blepharoptosis. Eight patients underwent neurofibroma debulking (and lid shortening) and lateral canthal reattachment. Three had enucleation of their blind eyes. Seven patients had two or more operations for their orbito-palpebral deformities. New signs included conjunctival and lacrimal gland infiltration with a secondary dry eye. Conclusion. Blepharoptosis is indicated if the visual axis is compromised and there is a chance of limiting amblyopia. Definitive for appearance is best delayed until the age of 18 years, or when the disease progression has stabilised, unless there are compelling social reasons for earlier. Q 2003 The British Association of Plastic Surgeons. Published by Elsevier Ltd. All rights reserved. q Presented in part at the British Ophthalmic Plastic Surgery Society Meeting, Manchester 2002 and the Annual Meeting of the American Academy of Ophthalmology New Orleans *Corresponding author. Address: Mr Richard Collin FRCS, FRCOphth, Consultant Opthalmic Surgeon, Moorfields Eye Hospital, City Road, London EC1V 2PD, UK. address: vickielee@mac.com Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited phakomatosis. 1 The incidence of severe head and neck deformities ranged from 1 to 4% 2,4 in studies of children attending NF1 clinics and up to 22% 4 in one surgical series. The orbitotemporal deformities may develop in utero, can cause severe disfigurement and affect visual development. Although there is an unrelenting increase in the number and size of neurofibromas throughout life, the rapid growth phase tends to occur during childhood and puberty. To our knowledge, this is the first publication describing the disease progression and the results of oculoplastic in a paediatric cohort of patients over several years. Methods A retrospective interventional case series analysis was performed in all patients who first presented S /03/$ - see front matter Q 2003 The British Association of Plastic Surgeons. Published by Elsevier Ltd. All rights reserved. doi: /s (03)
2 The surgical management of childhood orbito-temporal neurofibromatosis 381 Table 1 Demographics and surgical treatment of the study cohort Pt Age (yrs) M/F R/L Previous Follow up (yrs) Snellen visual acuity R/L Upper lid NF Lower lid NF Orbit NF Ptosis Debulking Lateral canthal Extra-ocular muscle Total no. of operations 1 6 F L þ 6 6/12, CF þ þ 2 þ þ þ F R 2 5 6/9, 6/5 þ 2 þ þ þ þ M R 2 22 PL, 6/4 þ 2 þ þ þ þ þ M R þ 8 6/24, 6/6 þ 2 þ þ þ þ þ F L /6, 6/9 þ 2 þ þ þ þ M R þ 17 NPL, 6/9 þ þ þ þ þ þ M R 2 6 NPL, 6/6 þ 2 þ þ þ þ M L þ 12 6/6, 6/12 þ 2 þ þ þ þ F L 2 6 6/6, 6/6 þ 2 þ þ VA, Snellen visual acuity (CF, count fingers; PL, perception of light; NPL, no perception of light). Pt, patient under the age of 16 years with an established diagnosis of NF1, treated by one of the authors (JROC) from 1978 to As the study aim was to document disease progression, patients who had postoperative follow up for less than 5 years were excluded (Table 1). Results There were 13 NF1 patients under the age of 16 in our series. Four patients with inadequate follow up were excluded. The remaining patients included five males and four females with ages ranging from 3 to 15 years at the time of their first clinic visit. The follow-up ranged from 5 to 22 years. Four patients had undergone previous for their orbito-temporal deformities. All had unilateral involvement (5 right and 4 left), and the visual acuity in the affected eye ranged from 6/6 to NPL (no perception of light). Seven of the nine patients had worse visual acuity on their affected side, with one patient who already had his blind eye enucleated prior to the first clinic visit. Two more patients underwent enucleation of their blind eyes during the follow up period. All had upper lid and two also had lower lid involvement; all had orbital neurofibromatosis with varying degrees of ocular Fig. 1 Case 1 (age 4): Complete left blepharoptosis with brow and facial asymmetry. dystopia. All underwent blepharoptosis, and eight patients had debulking and lateral canthal reattachment. Two patients also underwent extra-ocular muscle. The number of operations undergone by the patients during the study period ranged from 1 to 7. Our classification of peri-orbital deformities: (1) upper lid infiltration with ptosis (2) lower lid infiltration (3) lateral canthal disinsertion (4) conjunctival and lacrimal gland infiltration. Case 1 A 6-year-old Asian girl who had undergone three previous lid debulking operations presented with severe neurofibromas affecting her left upper and lower lids, orbit and cheek. She had a complete left blepharoptosis (Fig. 1), a left convergent squint, extensive conjunctival neurofibroma infiltration involving the lacrimal gland (Fig. 2), a depressed left lateral canthus and extensive left sided facial swelling. The orbital and temporal area was debulked and the lateral parts of the eyebrow, upper and lower lids were resected. A large levator resection was undertaken and the lateral canthus was raised by means of an upper to lower lid lateral transposition flap and reattached to the periosteum of the left lateral orbital wall. The lateral conjunctival neurofibromatosis in the upper temporal quadrant was not debulked due to the risk of damaging the lacrimal gland. Postoperatively the left horizontal palpebral aperture was reduced, the lateral canthi were level and the eyebrows of a similar size. Two years later the blepharoptosis had deteriorated and was covering the pupillary axis and she underwent a second levator advancement and conservative debulking of the superotemporal quadrant. At her last follow up visit, at the age of 12 years, her upper lid still remained clear of the pupillary axis (Fig. 3). Further levator and
3 382 V. Lee et al. lid debulking was planned once the patient had passed puberty. Case 2 A 5-year-old Caucasian girl had right congenital upper lid blepharoptosis secondary to a plexiform neurofibroma. As the pupillary margin was clear, she was managed conservatively with amblyopia treatment. An increase in neurofibroma infiltration causing visual axis obstruction seven months later necessitated lid debulking combined with a maximal right levator resection. After an initial improvement she developed a recurrence in her upper lid swelling which was managed conservatively. Case 3 A 9-year-old Caucasian boy presented with a right congenital blepharoptosis and pulsating exophthalmos. He underwent a limited orbital debulking procedure at the age of seven years, an extraocular muscle transposition procedure at age 11 to correct his hypoglobus (Fig. 4), followed 6 months later by enucleation of his blind eye and resection of the lateral upper and lower lids and lateral canthal reattachment using a periosteal strip. At the age of 12 years, he underwent a large anterior levator resection and further debulking of the upper lid (Fig. 5). Further debulking of his greatly thickened right brow area was carried out at the age of 17 years (Fig. 6). His detached lateral canthus was elevated with a lower lid autogenous fascial sling to support his artificial eye at the age of 22 years. He underwent a brow lift and further debulking of his neurofibroma at the age of 24 years for a bulky anophthalmic socket and medial brow blepharoptosis (Fig. 7). At the age of 31 years, a quadrilateral Fig. 3 Case 1 (age 12) with recurrence of NF infiltration but with her upper lid still remained clear of the pupillary axis. area of preauricular skin and deep tissue was excised and he was referred to plastic for debulking of his cheek neurofibromas. Case 4 A 13-year-old Asian male had previously undergone three orbital debulking operations for his right pulsating exophthalmos. He had a complete right blepharoptosis with poor levator function, hypoglobus and hypotropia (Fig. 8). After an anterior levator resection he developed marked postoperative conjunctival prolapse (Fig. 9) and a full thickness lateral lid resection was performed 5 days later (Fig. 10). Two years later, he underwent extraocular muscle transposition to improve his hypoglobus with a Crawford type frontalis suspension with autogenous fascia lata for his blepharoptosis repair. At the age of 17 years, after having undergone a right frontal craniotomy to further debulk the orbital contents, the patient wanted to improve cosmesis. Unfortunately the surgical options were limited (barring an enucleation of a Fig. 2 Case 1 (age 4): extensive conjunctival neurofibroma infiltration involving the lacrimal gland. Fig. 4 Case 3 (age 7) right congenital blepharoptosis and pulsating exophthalmos.
4 The surgical management of childhood orbito-temporal neurofibromatosis 383 Fig. 5 Case 3 (age 12) after enucleation and ptosis (wearing an ocular prosthesis). sighted eye, or cosmetic prisms) (Fig. 11) and he was advised to seek further neurosurgical opinion. Case 5 A 4-year-old Caucasian girl presented with progressive left upper lid blepharoptosis, hypoglobus and marked lacrimal gland/conjunctival neurofibromatosis. She managed conservatively until aged seven when the blepharoptosis obscured her visual axis causing a decrease in visual acuity. She underwent a partial resection of the lateral lid and anterior levator resection, with resuspension of the superolateral fornix and lacrimal gland to the periosteum of the superior orbital rim with 4/0 catgut sutures. She required two further anterior levator resections and resuspension of the prolapsed lacrimal gland over the next 9 years of follow-up. Fig. 7 Case 3 (age 24) after lower lid fascial sling, brow lift and further debulking. Case 6 A 12-year-old Caucasian male who had previously undergone two debulking operations presented with severe right upper and lower lid neurofibromatosis, pulsating exophthalmos and a blind eye (Fig. 12). He underwent full thickness upper and lower lid resection and enucleation (Fig. 13). A right lateral canthal tendon reconstruction with a nonabsorbable suture was undertaken at the age of 21 years, and this was reinforced the following year with a lower lid autogenous fascia lata sling (Fig. 14). An anterior levator resection was performed at the age of 25 years. At the age of 29 years, the patient underwent further debulking of his lateral canthal neurofibroma and was then referred to plastic for debulking of his cheek neurofibroma (Fig. 15). Case 7 A 15-year-old Asian male had a heavily infiltrated enlarged right socket (after enucleation of the blind Fig. 6 Case 3 (age 17) for debulking of his greatly thickened right brow area was carried. Fig. 8 Case 4 (age 13) complete right blepharoptosis.
5 384 V. Lee et al. Fig. 9 Case 4 (age 13) marked postoperative conjunctival prolapse following anterior levator resection. eye at the age of 6 years), a complete right blepharoptosis and was unable to tolerate a large cosmetic shell designed to lift the right upper lid (Fig. 16). A large levator resection only resulted in a small increase in the palpebral aperture but the prosthesis remained in a depressed and divergent position. After a further levator resection with extensive debulking of the orbital neurofibromas and elevation of the lateral canthus, the patient was able to achieve reasonable cosmesis with a specially fitted large artificial eye (Fig. 17). Over the next 7 years, the ocular prosthesis was adjusted to accommodate the continuous growth of the orbital neurofibromas and an optic glioma. Case 8 A 3-year-old Caucasian boy was referred with a partially excised left upper lid neurofibroma which caused a severe mechanical blepharoptosis. He underwent a lateral lid pentagonal resection, Fig. 11 Case 4 (age 17) after extraocular muscle transposition and a Crawford type frontalis suspension with autogenous fascia lata and a right frontal craniotomy. levator resection and lateral canthal reattachment. Similar was performed successfully 2 years later for a blepharoptosis recurrence. However, the patient developed significant lacrimal gland infiltration and an extremely dry left eye necessitating the use of a hydrogel contact lens. Case 9 A 6-year-old Caucasian girl had mild left facial assymetry, hypoglobus and blepharoptosis but with no sign of plexiform neurofibroma infiltration. A small levator resection resulted in a satisfactory postoperative lid height and contour. Six years later, she had developed a slight recurrence of the blepharoptosis but the lid remained clear of the pupillary axis (Fig. 18). No further was planned until after puberty. Fig. 10 Case 4 (age 13) resolution of conjunctival prolapse after a full thickness lateral lid resection 5 days later. Fig. 12 Case 6 (age 12) severe right upper and lower lid neurofibromatosis, pulsating exophthalmos and a blind eye.
6 The surgical management of childhood orbito-temporal neurofibromatosis 385 Fig. 13 Case 6 (age 12) after full thickness upper and lower lid resection and enucleation. Discussion Neurofibromas, along with other major facial hamartomas such as haemangiomas and lymphangiomas, form during embryologic development and are seamlessly integrated into the facial structures preventing total excision. 5 Most studies 2 4 concurred that these lesions were usually obvious by the first year of age and there have been several publications over the years concerning orbitotemporal neurofibromatosis and its surgical treatment. 6 8 However there have been no longitudinal studies of a cohort of paediatric patients with predominantly periorbital disease documenting the progression of the deformities and the management over several years. One long term study examining the surgical management of head and neck neurofibromatosis in children recommended early removal of lesions in order to produce better Fig. 15 (age 29) After further ptosis and debulking. cosmesis with removal of large painful conspicuous or strategically placed tumours. 5 The severity of the deformities of orbito-temporal neurofibromatosis were classified by Jackson into three groups Group 1 (Orbital soft tissue involvement with a seeing eye), Group 2 (Orbital soft tissue and significant bony involvement with a seeing eye) and Group 3 (Orbital soft tissue and significant bony involvement with a blind or absent eye. 9 The skeletal changes that occur in 7% 10 of patients with NF1 consist of partial or complete absence of the greater wing of sphenoid leading to an enlargement of the superior orbital fissure, through which the temporal lobe could herniate into the orbit causing (pulsating) exophthalmos and ocular dystopia 11 (as in Patients 3, 4 and 6). There have been many published studies in the craniofacial literature describing transcranial approaches to repair the bony defect and debulk the orbit. 12,13 The main palpebral lesion, which forms the focus of this paper, is the plexiform neurofibroma which causes full-thickness infiltration of the lid leading to mechanical blepharoptosis. Localised hypertrophy of the tissues with fragmentation of the elastin results in lax lids and canthal tendons. 14 Fig. 14 (age 21) After canthal reattachment with a lower lid autogenous fascia lata sling. Fig. 16 Case 7 (age 15) bulk of neurofibromas in this patient s socket resulting in the poor fitting of a large cosmetic shell designed to lift the right upper lid.
7 386 V. Lee et al. Fig. 17 Case 7 (age 17) reasonable cosmesis after orbital debulking and ptosis with new ocular prosthesis. In keeping with previous descriptions all our patients have unilateral disease, and in all but one (Patient 9) of the patients the visual acuity was worse on the affected side. The main surgical procedures included (1) debulking, (2) ptosis (anterior levator resection or frontalis suspension) and (3) lateral canthal re-attachment. The lateral part of the upper lid is typically more infiltrated (creating the classical S-shaped deformity) and a full thickness pentagonal wedge can be excised in this area. Care must be taken to spare the lacrimal gland ductules where there is extensive conjunctival involvement. Pentagonal excisions can also be used to excise nodular neurofibromas causing mechanical ptosis in the upper lid or ectropion in the lower lid. Although we do not recommend routine enucleation of all blind eyes, especially where a cosmetic shell could be worn for improved cosmesis, elective enucleation of a blind eye may be part of the debulking process, Fig. 18 Case 9 (age 12) subtle orbito-temporal NF with mild ptosis and ocular dystopia after levator 6 years earlier. and usually no orbital implant insertion is required, as there is often increased orbital volume due to temporal lobe prolapse or neurofibroma infiltration. Blepharoptosis is indicated if the visual axis is compromised and there is a chance of limiting amblyopia (many patients have poor vision from congenital glaucoma or optic nerve glioma). Ptosis in NF1 patients is challenging, and it is often difficult to judge the correct amount of levator resection due to the heavy infiltration. In spite of this, all of our patients, even those with complete ptosis preoperatively, achieved a satisfactory elevation of the upper lid above the pupillary axis. This is in contrast to previous reports of poor outcome of ptosis. 9 The use of scleral shells may be appropriate to hide unsightly blind eyes following blepharoptosis and may function as partial blepharoptosis props, so that once removed, the lids would close satisfactorily. This decreases the risk of corneal exposure secondary to maximal levator resection. For lateral canthal reattachments, we prefer to use nonabsorbable sutures from the tarsus into the orbital periosteum and avoid the use of periosteal flaps which may inhibit skeletal growth or lower lid fascial slings in view of further facial growth. Most of our patients had several surgical procedures staged over many years to correct the deformities. All but two patients had undergone more than two operations during the study period. The question of the timing and extent of 4 in children with orbito-temporal neurofibromatosis is a controversial topic. Intrauterine development of neurofibromas 15 typically involves the orbital regions and usually increase in size and number throughout childhood. However, plexiform neurofibromas may remain quiescent until the onset of puberty, a time which usually heralds a major increase in the number and size of neurofibromas. Middle and late adulthood is characterised by a progressive increase in the size and number of neurofibromas although with age this becomes more quiescent. Advocates of conservative 5 recommend selective conservative, nerve sparing, resection of functionally impairing or cosmetically deforming masses, with multiple excisions over a period of years. Proponents of more aggressive 7,8 felt that the reluctant surgeon has no place in the care of these patients and that repeated debulking procedures to remove the main bulk of the tumours offered the best chance of avoiding further deformities. These included Morax 7 who advocated total onepiece lid removal and Jackson 8 who treated the more localised form of disease with radical resection and free tissue transfer, and advocated
8 The surgical management of childhood orbito-temporal neurofibromatosis 387 enucleation in severe orbital disease. Likewise, Poole 12 found that transcranial repair of the sphenoidal bony defect and orbital debulking produced disappointing results unless the eye was removed. Although the main focus of this paper is on the periorbital aspects of neurofibromatosis, all orbito-temporal NF patients should optimally be managed in a multidisciplinary unit with a cranio-facial surgeon, neurosurgeon, plastic surgeon and ophthalmologist. As oculoplastic surgeons, we tailored our to the achieve reasonable cosmesis and to alleviate any threat to the vision and comfort of a seeing eye, but ultimately the surgical result are always compromised by the very nature of the tumour, its diffuse position, its widespread involvement of all the constituents of a region or organ, and its tendency to recur. 16 Definitive cosmetic is best delayed until past puberty, or when the disease progression has stabilised, unless there are compelling social reasons for earlier. Both the surgeon and patient need to understand that childhood surgical interventions may signal the beginning of a life long series of operations. We recommend that the oculoplastic surgeons should be involved in the care of paediatric orbitotemporal NF1 patients to allow timely application of appropriate surgical procedures to preserve vision and to improve ocular cosmesis and comfort. References 1. Crowe FW, Schull WJ, Neel JV. A clinical, pathological and genetic study of multiple neurofibromatosis. Springfield, IL: Charles C Thomas; p Huson SM, Compston DA, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. J Med Genet 1989;26: North K. Clinical manifestations: patient review. Neurofibromatosis type 1 in childhood, 1st ed. London: Mackeith Press; p Adkins JC, Ravitch MM. The operative management of von Recklinghausen s neurofibromatosis in children, with special reference to the head and neck. Surgery 1977;82: Grabb WC, Dingman RO, Oneal RM, Dempsey PD. Facial harmatomas in children: neurofibroma, lymphangioma and haemangioma. Plast Reconstr Surg 1980;66: Van de Meulen JC, Moscona AR, Vandrachenm M, Hitshowitz B. The management of orbitofacial neurofibromatosis. Ann Plast Surg 1982;8: Morax S, Herdan ML, Hurbli T. The surgical management of orbitopalpebral neurofibromatosis. Ophthal Plast Reconstr Surg 1988;4: Jackson IT, Laws ER, Martin RC. The surgical management of orbital neurofibromatosis. Plast Reconstr Surg 1983;71: Jackson IT, Carbonnel A, Potparic Z, Shaw K. Orbitotemporal neurofibromatosis: classification and treatment. Plast Reconstr Surg 1993;92: Hunt JC, Pugh DG. Skeletal lesions in neurofibromatosis. Radiology 1961;76: LeWald LT. Congenital absence of the superior orbital wall causing pulsating exophthalmos. Am J Roengenol 1933;30: Poole MD. Experiences in the surgical treatment of cranioorbital neurofibromatosis. Br J Plast Surg 1989;42: Synder BJ, Hanieh A, Trott JA, David DJ. Transcranial correction of orbital neurofibromatosis. Plast Reconstr Surg 1998;102: Bloem JAM, Van der Meulen JC. Neurofibromatosis in plastic. Br J Plast Surg 1978;31: Spira M, Riccardi V. Neurofibromatosis. Clin Plast Surg 1987; 14: Conley J. Neurogenic tumours of the head and neck. J Otolaryngol Soc Austr 1972;3:362.
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