The New Journal of Medicine 2012;29(3):187-188
Case report
Amniotic Band Sequence Associated with FrontoEthmoidal Meningo-Encephalocele Ali KARAMAN 1, Hasan KAHVECİ 2, Cengiz ÖZTÜRK
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Erzurum Nene Hatun Obstetrics and Gynecology Hospital Department of Medical Genetics, ERZURUM 2 Erzurum Nene Hatun Obstetrics and Gynecology Hospital Department of Neonatal Intensive Care Unit, ERZURUM 3 Erzurum Training and Research Hospital Department of Anatomy, ERZURUM ÖZET Fronto-etmoyidal meningo-ensefalosel ile birlikte amniyotik bant sekansı Amniyotik bant sekans (ABS) ekstremite amputasyonlar, konstrüksiyon bantlar, psödosindaktili, çeşitli kraniyofasiyal, iç organ ve karn duvar defektleri ile karakterize sporadik, konjenital, nadir bir anomalidir. Biz ABS’li on günlük yenidogan bir olguyu sunduk. Bu çocuk meningo-ensefalosel ve bilateral kriptoftalmusa sahip idi. Anahtar Kelimeler: Amniyotik bant sekans, meningoensefalosel, kriptoftalmus
INTRODUCTION The amniotic band sequence (ABS) is a rare, sporadic congenital anomaly characterized by amputation of limbs, constriction bands, pseudosyndactyly, multiple craniofacial, visceral and abdominal wall defects1,2. Because the result of amnion rupture is external compression or disruption, internal anomalies do not occur. Hence, the features evident by surface examination are usually the only abnormalities1. Here, we report a female infant with ABS, who also had meningo-encephalocele and bilateral cryptophthalmos. CASE A ten-day-old female term neonate with nonconsanguineous parents was born by cesarean section with fetal distress. On examination at birth, she weighed 2.5 kg and measured 47 cm in length. She had a fronto-ethmoidal meningo-encephalocele, bilateral cryptophthalmos, partial midfacial cleft, dysplastic nose, dysplastic mouth and a fibrous band entering the mouth. The ears were low set and dysplastic (Figure 1). Her hands were dorsiflexed and the fingers were partial amputated (Figure 2 A-B). Correspondence: Ali KARAMAN M.D. Erzurum Nene Hatun Obstetrice and Gynecology Hospital Department of Medical Genetics, Erzurum e-mail:
[email protected] Arrival Date : 27.12.2010 Acceptance date : 24.02.2011
ABSTRACT Amniotic band sequence (ABS) is a rare sporadic congenital anomaly characterized by amputation of limbs, constriction bands, pseudosyndactyly, multiple craniofacial, visceral and abdominal wall defects. We report a case of a ten day old neonate with ABS. This child had meningo-encephalocele and bilateral cryptophthalmos. Key Words: Amniotic band encephalocele, cryptophthalmos
sequence;
meningo-
She had partial amputation of the right toes (Figure 3). The genitalia and anal opening were normal. Her echocardiography, chest radiograph and ultrasound examination of the abdomen were normal. Karyotype analysis was 46,XX.
Figures 1.
Figure 2 A-B.
DISCUSSION
Amniotic band sequence is a disruption sequence presenting with fibrous bands, possibly 187
The New Journal of Medicine 2012;29(3):187-188
A. Karaman et al.
emerging as a result of amniotic tear in the first trimester of gestation. Secondary to amnion rupture, small strands of amnion can encircle developing structures (usually the limbs) leading to annular constrictions, pseudosyndactyly, intrauterine amputations, and umblical cord constriction1. Deformational defects can occur secondary to decreased fetal movement, the result of tethering of a limb by an amniotic band; or constraint, the result of decreased amniotic fluid. The decreased fetal activity may result in scoliosis or foot deformities. It may also cause oedema, haemorrhage, and resorptive necrosis1,3.
Figure 3. Figure 1, 2A-B, 3. The physical appearance of the present patient with amniotic band sequence
Incorrectly, thoraco-or abdominoschisis, exencephaly/encephalocele, and facial clefts usually associated with amnion adhesions and sometimes complicated by rupture of the amnion with amputation defects have been considered part of the ABS1-3. Neonatal diagnosis of ABS is frequently difficult, but the presence of fibrous bands at constriction points is helpful in the diagnosis. It is widely accepted that the primary event in the amniotic band sequence is early rupture of the amnion. The mechanism of the initial rupture is unknown. Examination of the placenta and membranes is diagnostic1,4,5. The etiology of this disorder has been, with rare exceptions, idiopathic. These rare exceptions are known or presumed to be caused by trauma
infection, ischaemia, amniocentesis, pathology of connective tissue, intake of acetaminophene, and busulphan during gestation1,6. It has generally been a sporadic event in an otherwise normal family, and hence the recurrence risk is usually stated as being negligible. Although the disruptive defect resulting from amniotic bands may ocur at any time during gestation, amnion rupture most likely occurs before 12 weeks’ gestation1. The mother of our case had no chronic disease (i.e., diabetes mellitus, hypercholesterolemia, hypertension and cardiovascular disease), history of trauma, infection and intake of drug. In more recent studies, the anomalies seen in some patients included facial malformation and clefting, brain anomalies (encephalocele, agenesis of the corpus callosum, holoprosencephaly), eye anomalies (anophthalmia, microphthalmia, and microcornea), and extremity and digit anomalies (talipes equinovarus, amputation of an extremity, syndactyly, and polydactyly). Other systems involved include genito-urinary anomalies, and skin appendages3,5. Our patient had meningoencephalocele, cryptophthalmos, partial midfacial cleft, dysplastic nose, dysplastic mouth structure, a fibrous band entering the mouth, hand dorsiflexion, partial amputation of the fingers and partial amputation of the toes. There is etiologic heterogeneity for the meningo-encephalocele anomaly. With meningoencephalocele, prognosis with regard to sight is uniformly poor7-9. In an early study, Goldhammer et al.7 showed an infant with absence of the right ear and eye, cleft lip and palate, two encephaloceles, ventricular and atrial septal defects, and aberrant right subclavian artery. In another study, Tayel et al. reported four ABS cases with syndactyly, amputation of fingers and toes and anencephaly, cleft lip and palate, ear malformations10. The prognosis is dependent on the severity of the associated defects. Prenatal diagnosis by means of ultrasonography, fetal magnetic resonance imaging and fetoscopy is possible.
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maternal factors and amniotic band defects. Birth. Defects. Res. A Clin Mol Teratol 2003;67(1):68-72. 7. Goldhammer Y, Smith JL. Cryptophthalmos syndrome with basal encephaloceles. Am J Ophthalmol 1975; 80: 146-49. 8. Gündüz K, Günalp I. Congenital symblepharon (abortive cryptophthalmos) associated with meningoencephalocele. Ophthal Plast Reconstr Surg 1997;13(2):139-41. 9. Huang QB, Wang JG, Li XG, Zhou XD, Wang DH, Wang XY. Neurofibromatosis complicated with meningoencephalocele: one case report. Chin Med J 2007;120(23):2151-52. 10. Tayel SM, Fawzia MM, Al-Naqeeb NA, Gouda Sç, Al Awadi SA, Naguib KK. A morpho-etiological description of congenital limb anomalies. Ann Saudi Med 2005;25(3):219-27.
