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Neurocranial Defects with Neuro-Ophthalmic Significance

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Neurocranial Defects with Neuro-Ophthalmic Significance 11 Neurocranial Defects with Neuro-Ophthalmic Significance Ronald M. Minzter and Edward G. Buckley atients with cranial/skeletal defects often exhibit neuro- Pophthalmic abnormalities, which may be caused by specific anomalies within the spectrum of a given condition, or by an associated malformation of the nervous system, or be secondary to mechanical forces such as hydrocephalus. This chapter reviews the ophthalmic abnormalities found in progressive hemifacial atrophy, which are primarily due to structural defects, as well as ophthalmic abnormalities in Arnold–Chiari malformations, meningomyelocele, platybasia, and the Klippel–Feil syndrome, which are related to both structural and secondary neurological mechanisms. PROGRESSIVE HEMIFACIAL ATROPHY (PARRY–ROMBERG DISEASE) Progressive hemifacial atrophy (PHA), described by Parry in 1825, and by Romberg in 1846 as “trophoneurosis facialis,” is a progressive variable hemiatrophy of facial fat and subcutaneous tissues.102,111 Eulenburg34 later named this condition “progressive facial hemiatrophy.” The atrophy begins in childhood, pro- gresses intermittently and rapidly over the next 2 to 10 years, and usually decelerates by young adulthood.48,49,99 If onset is early enough, bone and cartilage may be affected because the facial structures have not yet fully matured104 (Fig. 11-1, top). In addition to facial atrophy, there can be dental/oral changes, migraine headaches, and neurological disturbances such as 371 372 handbook of pediatric neuro-ophthalmology A B CD FIGURE 11-1A–D. Progressive nature of progressive hemifacial atrophy (PHA) in a patient at 8 years old (A) and again at 15 years (B), showing left-sided atrophy. Fundus photos of the normal contralateral side (C) and the ipsilateral affected side with hypopigmentary disturbances (D), par- ticularly along the inferior arcade. trigeminal neuralgia and seizures.60,84 Unilateral trunk, limb, and even visceral changes have been associated in rare cases.91,108,110 Genetic patterns are unclear but, in a review by Rogers, females were affected more than males (3:2) and less than 5% of cases had bilateral involvement.104,110 The acquired progressive nature of hemifacial atrophy differentiates it from the congeni- tal nonprogressive spectrum of Goldenhar’s hemifacial micro- somia and the branchial arch syndromes.48,49,84 The etiology of PHA remains unclear. Various hypotheses have been proposed that can be largely grouped into four general categories: neurotrophic, vascular, exogenous insult, and autoimmune mediated. Neurotrophic theories implicate a chapter 11: neurocranial defects 373 trigeminal neuritis,80,101 a cerebral deregulation of the peripheral and sympathetic nervous systems through a heredodegenerative process,128 or a sympathetic nerve loss or interruption.84,89 The vascular theory, which itself relates to the trigeminal nerve, stems from work with electron microscopic and cytoimmuno- logical techniques showing the possible role of a “lymphocytic neurovasculitis” deleteriously affecting endothelial regeneration of vessels in close proximity with the trigeminal nerve. This process, in turn, leads to facial atrophy.104 Case studies of PHA with either uveitis and retinal vasculitis, or retinal vascular malformation, suggest that a mechanism for PHA is related to a disruption in the normal angiogenic process.82,100 Possible exogenous insults include a slow virus, which initiates atrophy, as well as other infectious agents and/or trauma, which serve to “trigger” the atrophic process.48,49 Borrelia infection (or Lyme disease) has also been implicated in a case of PHA, the atrophic progression of which was halted with treatment using peni- cillin.121 An autoimmune mechanism has also been proposed because both linear alopecia (a focal variant of scleroderma) and PHA share many features. However, unlike immune-related scleroderma, PHA is not associated with an elevated antinuclear antibody (ANA) titer, hyperglobulinemia, or circulating immune complexes.73 Ocular Findings Ocular findings are present in approximately 40% of cases of PHA.84 They may also be grouped into four general categories (Table 11-1). The first, and most clinically evident, involves structural abnormalities. Enophthalmos is the most prominent ocular finding in PHA and is secondary to orbital, lid, and brow atrophy. In rare cases, there is a “monostotic form fruste” with pure maxillary bone atrophy and maxillary sinus implo- sion.47,57,138 Lid atrophy with madarosis and pseudocolobomatous changes, ptosis, ectropion, blepharophimosis, and extraocular motility disturbances can occur. Ipsilateral upper lid retraction, with subsequent corneal exposure, has also been reported as a late finding.42 A variety of nonspecific abnormalities, including a case of ophthalmoplegia,65 is thought to result from connec- tive tissue atrophy and fibrotic-like changes in the orbit.17,40,124 A second constellation of features is consistent with involvement of sympathetic and trigeminal innervation. The sympathetic features include pupillary disturbances (miosis and 374 handbook of pediatric neuro-ophthalmology TABLE 11-1. Ocular Findings in Progressive Hemifacial Atrophy. Structural Lid atrophy Madarosis Ptosis Ectropion Blepharophimosis Lid retraction (late) Enophthalmos Innervational Pupil disturbance Miosis (Horner’s syndrome) Mydriasis (Adie’s syndrome) Corneal anesthesia Neuroparalytic keratopathy Autoimmune Scleroderma Episcleritis Iridocyclitis (Fuch’s syndrome) Uveitic glaucoma Optic nerve papillitis Other Hypopigmentary retinopathy Lacrimal dysfunction Progressive hyperopia Ocular motor palsies mydriasis), incomplete Horner’s syndrome, Adie’s pupil, Argyll–Robertson pupil, and heterochromia.91 The trigeminal nerve involvement occurs anywhere along the overall distribu- tion of facial atrophy; specific ocular problems such as exposure keratitis are attributed to neuroparalytic keratopathy.84 The third group of ocular signs are consistent with an autoimmune phenomenon and are twofold: those consistent with a form of scleroderma and those reflecting an inflamma- tory process. Both focal or linear scleroderma and PHA may manifest a classic sabre-like “en coupe de sabre” groove on the forehead at the junction of normal and atrophic tissue.84,91,128 Scleral melting, and even perforation, along this line has also been reported as a late finding of PHA,60 also possibly due to an autoimmune process. Patients with PHA and linear scleroderma may share the findings of enophthalmos, abnormal (often restrictive) ocular motility, heterochromia irides, pupillary changes, and cutaneous hyperpigmentary changes.4,84,117 An autoimmune process may be the underlying cause for inflam- matory conditions such as episcleritis, heterochromic cyclitis, chapter 11: neurocranial defects 375 and Fuch’s-like iridocyclitis, which are also seen in PHA. However, a neurovascular defect suggested by electron microscopy,104 and a case study of PHA involving Fuch’s hete- rochromic cyclitis and retinal vascular abnormalities (macro- aneurysms), imply a “common sympathetic defect” linking Fuch’s and PHA.69 Postuveitic glaucoma, cataracts, and papilli- tis followed by optic atrophy have also been reported.84,85,91,104,124 Certain ocular findings associated with PHA are difficult to place in the foregoing categories. Miller et al reported an ipsilateral hypopigmentary disturbance in the fundi of a series of PHA patients84 (see Fig. 11-1, bottom). This finding was thought to be analogous to uveitic, cutaneous, and iris pigment changes seen in other autoimmune conditions84 such as vitiligo, Vogt–Koyanagi–Harada syndrome, and tuberosclerosis.2,29,76 A disturbance in neural crest cell development has been suggested as another mechanism for this fundus pigmentary abnormality.46 A genetic defect of neural crest origin has also been proposed as a mechanism for primary corneal endothelial failure seen in a case of PHA.37 Ipsilateral lacrimal dysfunction and refractive changes (typically progressive hyperopia as a relatively early finding85), and contralateral oculomotor cranial nerve palsies and uveitis,17,40,65,84 have also been reported. DISEASES OF CERVICO-OCCIPITAL PROXIMITY OR “BULLNECK ANOMALIES” This group of entities includes Arnold–Chiari malformation, meningomyelocele, platybasia, basilar impression syndromes, and the Klippel–Feil syndrome. These neurocranial conditions may exist as a primary anomaly or as a result of a systemic bony disease with secondary architectural defects; they often have multiple overlapping and coincident features. Although ocular findings may be a part of the anomaly or syndrome itself, they also occur secondary to cervico-occipital structural defects and altered cerebrospinal fluid (CSF) dynamics. ARNOLD–CHIARI MALFORMATION Cleland, Chiari, and later Arnold described an anatomic mal- formation involving hydrocephalus with hindbrain herniation through the foramen magnum.6,19,25 Later, Chiari refined his description to include four types of malformations.20 The first 376 handbook of pediatric neuro-ophthalmology three types of Arnold–Chiari malformations (ACM) describe a gradient of anatomic distortion; the fourth type is structurally different. Type I ACM involves a partial caudal herniation of the cere- bellar tonsils and medial lobes through the foramen magnum with a normally positioned fourth ventricle. Although the foramen magnum is usually normal, type I ACM may incorpo- rate acquired defects of the foramen magnum as seen with basilar impression syndromes, and with defects more commonly associated
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