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Cephaloceles and Related Malformations

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Cephaloceles and Related Malformations Cephaloceles and Related Malformations Thomas P. Naidich, 1 Nolan R. Altman, Bruce H. Braffman, David G. MeLone, and Robert A. Zimmerman From Baptist Hospital of Miami, Miami, FL (TPN); Miami Children's Hospital, Miami, FL (NRA); Radiology Associates of Hollywood, Hollywood, FL (BHB); Children's Memorial Hospital, Chicago, IL (DGM); and Children's Hospital of Philadelphia, Philadelphia, PA (RAZ) This chapter addresses the gross pathology 1. Cranial meningoceles are cephaloceles in and imaging of anencephaly, exencephaly and which the structures protruding consist cephaloceles, and includes the clinical, epidemi­ solely of leptomeninges and cerebrospinal ologic, and pathologic features that have helped fluid (CSF). the authors to understand these conditions and 2. Cranial glioceles are cephaloceles in which to contribute meaningfully to their diagnosis and the structures protruding consist only of a management. This paper specifically excludes the glial-lined cyst containing CSF (22). fronto-ethmoidal (sincipital) cephaloceles, the re­ 3. Cranial meningoencephaloceles are cephal­ lated nasal gliomas and nasal dermal sinuses, and oceles in which the structures protruding the median cleft face syndrome, because these consist of leptomeninges, CSF, and brain. subjects have already been reviewed, in detail, in Some authors also distinguish cranial men­ the American College of Radiology Self-Evalua­ ingoencephaloventriculocele in which por­ tion Program No. 28, Neuroradiology Text and tions of the ventricles protrude into the Syllabus (1), in texts (2-6), and in articles (7-22). hernia sac, perhaps in association with her­ niating choroid plexus. Definitions 4. Atretic cephaloceles are formes fruste of cephaloceles that are characterized by a Cranium bifidum occultum designates simple small, noncystic, flat, or nodular lesion sit­ midline or paired paramedian skull defect(s) with­ uated in the midline of the scalp, either near out prolapse of meninges or brain (23). to vertex (parietal form) or just cephalic to Acrania is absence of the calvarium. The skull the external occipital protuberance (occipi­ base may be intact. tal form) (25). Exencephaly is acrania with protrusion of a substantial portion of the central nervous system Cutis aplasia congenita signifies a (multi)focal (CNS) into the amnionic cavity in utero and then congenital defect of the scalp, with or without into the environment postnatally. absence of the underlying bone and meninges Anencephaly is acrania with absence of most (26). or all of the brain tissue. Cephalocele signifies a congenital defect in the cranium and dura with extracranial herniation of any intracranial structure (23, 24). Cephaloceles Cranium Bifidum are subdivided into four types (23). Cranium bifidum is characterized by the per­ sistence of wide fontanelles into childhood (27). 1 Address reprint requests to Dr Naidich, Baptist Hospital of Miami, The normal frontal and parietal bones form from Department of Radiology, 8900 North Kendall Drive, Miami, FL 33176. intramembranous ossification centers that arise Index terms: Anencephaly; Exencephaly; Brain, abnormalities and anom­ laterally and expand toward the midline to enclose al ies; Pediatric neuroradiology the brain (28). The normal fontanelles are tran­ AJNR 13:655- 690 Mar/ Apr 1992 0195-6108/ 92/1302-0655 sient zones of nonossified tissue that lie between © American Society of Neuroradiology the converging ossification centers. They narrow 655 656 AJNR: 13, March/April1992 Fig. ] . Cranium bifidum; median cleft face syndrom e; Sedano facies D; 3-m onth­ old girl. Anterior view of a three-dimensional bone surface reformation shows deficient ossification of the entire frontal midline and most of the parietal midline. Fig. 2. Large symmetrical parietal foram ­ ina; 12-year-old boy. Vertex view of a three­ dimensional bone surface reformation. 1 2 progressively after birth, typically close by 12- ening and may bulge outward when the child 18 months (or earlier), and persist into adulthood cries. Stroking or pressure at the defect may only rarely (<1 %) (27). cause unusual pains and severe headaches (32). In some patients, delay in the ossification of Vomiting and seizures are rare (31 ). Mentation is the anterior or posterior parietal bones leads to normal. No herniation of brain, no spina bifida, large anterior, posterior, or confluent frontopari­ and no other gross cerebral anomaly has been etal defects that persist into early childhood. This reported with this condition. Midline cranium bi­ is cranium bifidum (Fig. 1) (29, 30). The under­ fidum may be associated with cleidocranial dys­ lying brain is covered by a fibrous membrane plasia, median cleft face syndrome (Fig. 1), and made of dura and pericranium (31 ). The overlying aminopterin fetopathy (31). Some studies show scalp is usually intact (31 ). With time, continued a slight association with cleft lip and cleft palate. ossification of the midline membrane may divide the single defect into two symmetrical frontal or Exencephaly parietal foramina at perhaps 6-8 years of age. These foramina may then close progressively, or Exencephaly is defined as acrania with persist­ persist (Fig. 2). ence of a substantial portion of the CNS (Fig. 3) In approximately 60% of the population, fo­ (33-37). It is a rare condition believed by some ramina persist in one or both parietal bones as to be an early form of anencephaly, that, given small, approximately 1 mm, ostia to transmit the time, would evolve to frank anencephaly by pro­ emissary veins that connect the epicranial veins gressive destruction of the protruding neural tis­ to the superior sagittal sinus. These are normal. sue. The precise etiology and epidemiology are In approximately 1 person in 25,000, the foram­ unknown. ina persist as large full-thickness defects in the In exencephaly, the flat intramembranous frontal or parietal calvarium (Fig. 2). Such per­ bones of the vault are absent. The skull base and sistently large foramina appear in families and the facial bones are typically preserved. The ex­ may show autosomal dominant inheritance (27). encephalic brain is covered by a highly vascular They are so common in the Catlin family that epithelium (33, 34) that may be intimately related · they may be known medically by the eponym to the residual cerebral tissue (35, 36). The dura "Catlin Mark" (32). Since individuals in the same may fuse with an underlying loose connective family may exhibit defects at either frontal or tissue that contains tortuous vascular channels parietal locations, the variability in the location of and foci of dysplastic neural elements (33). The the foramina appears to represent genetic heter­ subarachnoid "space" is obliterated (35, 36). ogeneity (27). The cerebral remnant is usually midline and Clinically, patients with cranium bifidum man­ extends from the nasion to the inion. Typically, ifest "soft spots" at the calvarial defect(s). The it is a disorganized mass of nervous tissue, blood overlying tissue shows slightly corrugated thick- vessels, fibrous tissue, and fluid-filled spaces. AJNR: 13, March/April1992 657 A B c Fig. 3. Exencephaly; Postmortem specimen of a 38-week-gestation, stillborn. (Reprinted with permission from Cox et al (33). Color images and additional material courtesy of Dr John J. Kepes and Dr Michael S. Handler, University of Kansas Medical Center, Kansas City, KA.). A and B, Anterior (A) and posterior (B) views show a large multilobed exencephaly covered by a highly vascular layer of skin. The face is dysplastic with low-set ears. The flat bones of the cranium were absent. C, Following intravascular injection of dilute barium, reflection of the skin revealed the outer surface of a 2 to 4-cm thick rind of soft connective tissue that occupied the expected position of the leptomeninges and subarachnoid space-a dermal meningeal membrane. D, Removal of the meningeal rind revealed the posterior surface of roughly symmetrical cerebral hemispheres with flattened gyri, shallow sulci, and foci of hemorrhage. The ventricular system is open and displays a single chamber lined by numerous multilobular soft-tissue masses. No normal midline structures could be identified. The cerebellar tissue protruded as a single dysplastic bulb to the right of the medulla. E, Photomicrograph (X 100) of the dermal meningeal membrane oriented with skin at the top reveals a loose connective tissue containing numerous tortuous vascular channels and foci of dysplastic neural elements. 658 AJNR: 13, March/April 1992 Fig. 4. Syndrome of amnionic bands; two specimens. (Cases courtesy of Dr Ellsworth C. Alvord, Jr., Seattle, WA.) A and B, Lateral (A) and posterior (B) views of a stillborn show acrania, substantial residual dysplastic cerebral and meningeal tissue, and constriction lines (white arrows) at the site of crossing bands. A small papilloma lies along the lower margin of the crease (black arrow). There is facial-palatal clefting. C, In this specimen, the exencephaly is continuous superiorly with an amnionic band (arrow). The face and orbits are dysplastic. Fig. 5. Syndrome of amnionic bands with encephalocele. (Reprinted with permission from Naidich et al (5).) A , Facies. Lateral view of a 12-year-old mentally retarded girl shows a long, thin band-like scar extending across the scalp and face from the temporoparietal region through the cheek and corner of the mouth to the lower lip. The large posterior zone of atrophic skin and absent hair bulged laterally and displaced the ear inferiorly. B, Noncontrast axial
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