Sphenoid Dysplasia Research Articles

Café au lait spots: the pediatrician's perspective.

1. Mustafa Tekin, MD* 2. Joann N. Bodurtha, MD, MPH† 3. Vincent M. Riccardi, MD‡ 1. 2. *Clinical Genetics Fellow. 3. 4. †Associate Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology, Virginia Commonwealth University/Medical College of Virginia Hospitals, Richmond, VA. 5. ‡President, The Neurofibromatosis Institute, La Crescenta, CA. Objectives After completing this article, readers should be able to: 1. Define cafe au lait spots typical of neurofibromatosis type 1 (NF1) and describe their frequency and variability in the normal population. 2. List three or more genetic disorders other than NF1 that are associated with cafe au lait spots. 3. Summarize three or more clinical manifestations and molecular bases of NF1 and NF2. 4. List the diagnostic criteria for NF1. 5. Summarize clinical findings of genetic disorders other than NF1 associated with cafe au lait spots. Every pediatrician faces the challenge of deciding if a patient who has cafe au lait (CAL) spots has an underlying genetic condition. CAL spots typical of neurofibromatosis type 1 (NF1) are discrete, round or oval, uniformly hyperpigmented skin patches. Their color varies from light to dark brown, and the border may be smooth or irregular. They usually are smaller in newborns, enlarge as children get older, and are less prominent in adults. The histologic basis of CAL spots is increased melanin content, with the presence of giant melanosomes in both melanocytes and basal keratinocytes and no melanocytic proliferation. The giant melanosomes in CAL spots are not unique to NF1; they can be seen in unaffected skin of adults who have NF1 and occasionally in normal skin of healthy individuals. Therefore, the presence of giant melanosomes is not helpful for diagnosing NF1. The frequency and number of CAL spots vary in the general population according to ethnic background and age. Sometimes otherwise healthy children who have red hair and often are of Irish or Welsh background have multiple areas of patchy hyperpigmentation. Similarly, multiple patchy areas of hyperpigmentation can occur in healthy children who have mixed ethnic backgrounds in which two parents have very different skin colors. CAL spots were noted in 0.3% of Caucasians and 18% of African-Americans …

Endoscopic resection of fibro-osseous lesions of the paranasal sinuses.

Fibro-osseous tumors, including osteomas, ossifying fibromas, and fibrous dysplasia, are not uncommon benign lesions arising in the paranasal sinuses. Conventional wisdom advocates resection when these lesions are symptomatic, or when they exhibit rapid growth. Traditionally, resection has been performed via a variety of open approaches. With the advent of sinonasal endoscopy in the mid 1980s, and subsequent advances in technology and surgical techniques, endoscopic management of some of these lesions is now feasible. To date, a search of the literature reveals only three case reports of osteomas resected with endoscopic guidance. We present a series of 10 symptomatic fibro-osseous lesions (nine osteomas and one fibrous dysplasia) occurring in nine patients in which endoscopic techniques were used. Seven ethmoid and frontal recess osteomas were resected transnasally and one sphenoid sinus fibrous dysplasia was resected using a transseptal transsphenoidal approach with the assistance of direct endoscopic visualization. There were two anticipated CSF leaks that were recognized and repaired at the time of surgery. There were no other complications and no tumor recurrence. All patients noted improvement in preoperative symptoms. We discuss patient selection, operative techniques and strategies, and the advantages and disadvantages of the endoscopic approach in the management of paranasal sinus fibro-osseous lesions.

Transcranial Correction of Orbital Neurofibromatosis

Neurofibromatosis is a systemic disease that often produces striking disfigurement. Orbital manifestations are common and include sphenoid dysplasia with or without infiltration of the periorbital soft tissues. The resultant deficiency of the posterolateral orbital wall may lead to protrusion of the temporal lobe into the orbit, displacement of the globe, and pulsatile exophthalmos. Treatment at our unit has consisted of transcranial orbital reconstruction with bone grafts and periorbital soft-tissue correction. Observation of complete bone graft resorption in one patient prompted an assessment of the Australian Craniofacial Unit's experience with particular attention paid to the stability of operative correction. Of 36 patients with head and neck neurofibromatosis treated during the period from 1981 to 1995, 14 patients underwent transcranial correction of orbital deformities secondary to sphenoid dysplasia. The treatment and outcomes of this transcranial group are reviewed. The most notable finding was that of recurrent globe pulsation in four patients following initial resolution. Computed tomography scans have documented partial to complete bone graft resorption in three of these patients. Titanium mesh is now being utilized to provide a more durable reconstruction. (Plast. Reconstr. Surg. 102: 633, 1998.)

Transcranial correction of orbital neurofibromatosis.

Neurofibromatosis is a systemic disease that often produces striking disfigurement. Orbital manifestations are common and include sphenoid dysplasia with or without infiltration of the periorbital soft tissues. The resultant deficiency of the posterolateral orbital wall may lead to protrusion of the temporal lobe into the orbit, displacement of the globe, and pulsatile exophthalmos. Treatment at our unit has consisted of transcranial orbital reconstruction with bone grafts and periorbital soft-tissue correction. Observation of complete bone graft resorption in one patient prompted an assessment of the Australian Craniofacial Unit's experience with particular attention paid to the stability of operative correction. Of 36 patients with head and neck neurofibromatosis treated during the period from 1981 to 1995, 14 patients underwent transcranial correction of orbital deformities secondary to sphenoid dysplasia. The treatment and outcomes of this transcranial group are reviewed. The most notable finding was that of recurrent globe pulsation in four patients following initial resolution. Computed tomography scans have documented partial to complete bone graft resorption in three of these patients. Titanium mesh is now being utilized to provide a more durable reconstruction.

Health Supervision for Children With Neurofibromatosis

This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of neurofibromatosis has been made. Although the pediatrician's first contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of neurofibromatosis will be referred for advice. Therefore, these guidelines offer advice for this situation as well. At least two distinct types are recognized—neurofibromatosis 1, or NF-1 (previously known as von Recklinghausen disease or generalized neurofibromatosis), and neurofibromatosis 2, or NF-2 (previously known as bilateral acoustic neurofibromatosis). This discussion addresses only issues concerning the diagnosis and management of NF-1.1-8 Neurofibromatosis 1 is a progressive, multisystem disorder affecting about 1 in 3,000 individuals.9 A National Institutes of Health (NIH) Consensus Development Conference10 regarding NF-1 demarcated seven features, of which two or more are required to establish firmly the diagnosis of NF-1: 1. Six or more cafe-au-lait spots (CLS) or macules, greater than or equal to 5 mm in diameter in prepubertal patients and 15 mm in diameter in postpubertal patients; 2. Two or more neurofibromata of any type, or one plexiform neurofibroma; 3. Freckling in the axillary or inguinal region; 4. Optic glioma; 5. Two or more Lisch nodules (iris hamartomas); 6. A distinctive osseous lesion such as sphenoid dysplasia or cortical thinning of long bones, with or without pseudarthrosis; or 7. A first-degree relative (parent, sibling, or child) with NF-1 according to the preceding criteria. Diagnosis in nonfamilial pediatric cases may be difficult because certain clinical features are age-pendent.

Absence of the Greater Sphenoid Wing in Neurofibromatosis Type I: Congenital or Acquired: Case Report

unilateral absence of the greater wing of the sphenoid bone is a distinctive but uncommon manifestation of Type I neurofibromatosis, which has until now been regarded as a developmental anomaly of mesodermal origin. A computed tomographic scan was obtained in a 4-week-old infant with an abnormal left eye. The scan demonstrated an intact ipsilateral sphenoid bone, except for minor expansion of the medial end of the left superior orbital fissure. Another computed tomographic scan was obtained 6 years later, when the child had café-au-lait patches, axillary freckling, Lisch nodules, and left phthisis bulbi. This later scan showed typical sphenoid dysplasia. Much of the greater wing was absent, and the anterior temporal pole was displaced anteriorly. In this article, we discuss the implications of this case in terms of the cause of this condition and the diagnosis of Type I neurofibromatosis.

Correlative Imaging of Sphenoid Dysplasia Accompanying Neurofibromatosis

Experience with five cases of sphenoid dysplasia is collected and illustrated by plain film, computed tomography, and magnetic resonance imaging. Ancillary changes in the maxilla and mandible are shown. Paramount to the presentation are changes induced in the orbit resulting in a large superior orbital fissure with or without a meningeal cyst projecting through the fissure. Serial studies of one patient from birth through 5 years of age present the progressive nature of this abnormality.

Hemorrhage into fibrous dysplasia following minor head injury—Effective decompression for the ophthalmic artery and optic nerve

We performed an effective optic canal decompression in a patient with ethmoid and sphenoid fibrous dysplasia and visual impairment following minor head trauma. On admission, the patient's left visual acuity consisted only of light perception, and the left ophthalmic artery was not visible by angiography. A hematoma and fibrous dysplasia tissue in the sphenoid sinus were excised and the left optic canal was decompressed. The vision was markedly improved to an ability to count fingers in the following 2 weeks. The left ophthalmic artery was fully opacified in the postoperative angiogram.

Surgical treatment of trigonocephaly

Trigonocephaly results from premature closure of the metopic suture. We report our experiences with 30 patients who underwent surgical treatment. In our opinion, this type of craniosynostosis also involves sphenoid bone dysplasia. For this reason, our surgical procedure includes turning the orbital ridge away from the midline, frontal vault remodeling, and a wide ostectomy of the pterional bone.