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.
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