1/15. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
2/15. central nervous system in twin reversed arterial perfusion sequence with special reference to examination of the brain in acardius anceps.The twin-reversed arterial perfusion (TRAP) sequence, or acardia, is the most severe complication in monozygotic twinning. Although more than 400 cases with TRAP sequence were reported since 1533, thorough investigations of the brain in those cases with a rudimentary head remained infrequent. We report a TRAP sequence with microcephaly and a severely rudimentary brain anlage. Neuropathologic examination clearly demonstrated two types of change: (1) developmental arrest of brain at the prosencephalic stage (holoprosencephaly), and (2) hypoxic damage to the holospheric brain mantle with cystic change (hydranencephaly). With reference to previous studies in experimental animals showing that lack of oxygen during early embryogenesis can induce severe disruptions of head-brain and heart formation, it is concluded that oxygen deficiency due to TRAP may be responsible not only for the encephaloclastic changes in the acardius anceps, but for the developmental arrest of the brain cases as well. This would make it unnecessary to postulate additional primary causes such as asymmetric zygote cleavage (Schwalbe, '07) for the maldevelopment.- - - - - - - - - - ranking = 0.2keywords = anencephaly (Clic here for more details about this article) |
3/15. Polymicrogyria in monozygous twins and an elder sibling.Monozygous twin births have been associated with brain lesions such as hydranencephaly, multicystic encephalomalacia, and porencephaly. Prenatal circulatory injury has been considered to be the cause. Polymicrogyria is rare but has been reported in autopsied cases. The sibship in this case report, comprising monozygotic male twins and their elder sister from the same non-consanguineous parents, all had global developmental delay. brain MRI showed polymicrogyria. We suggest that, apart from circulatory compromise, genetic etiology must be implicated as the cause of polymicrogyria.- - - - - - - - - - ranking = 0.2keywords = anencephaly (Clic here for more details about this article) |
4/15. Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature.Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advocated in managing discordant monoamniotic twins. We report two cases managed expectantly with good outcomes and review other previously reported cases. The first case was a primigravid woman diagnosed with MATDA at 18 weeks. She was managed expectantly until 32 5 weeks when a cesarean section was performed for preterm labor. The surviving female infant weighed 1610 g. The second case was a multigravid woman who was diagnosed with MATDA at 17 5 weeks and was managed as an outpatient. An emergency cesarean section was performed at 31 weeks for non-reassuring monitoring and the surviving male infant weighed 1790 g. In both cases, the survivors were discharged home in good condition. A review of these two cases and those in the literature suggests that expectant management should be considered among management options for this rare condition.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
5/15. Biamnial elevated alpha-fetoprotein and positive acetylcholinesterase in twins, one with anencephaly.Anencephaly in twin B was accompanied by elevated amniotic fluid alpha-fetoprotein (AFP) and a positive acetylcholinesterase (AChE) band on gel electrophoresis in both twin sacs, although twin A was normal. AChE results did not help distinguish the false positive AFP in this set of twins, implying that AChE may diffuse transamniotically as has been previously postulated for AFP. In light of the low concordance rate for neural tube defects in twins, patient counselling in this situation must include the information that AFP and AChE may be falsely elevated in normal twin when the other twin has a neural tube defect.- - - - - - - - - - ranking = 0.8keywords = anencephaly (Clic here for more details about this article) |
6/15. Nonsyndromal anencephaly: possible autosomal recessive variant.The recurrence of anencephaly in families has been explained on a multifactorial basis. We present two unrelated families with three sibships of several nonsyndromal anencephalics including two pairs of concordantly affected like-sex twins. A rare autosomal recessive variant is proposed and inheritance is discussed in view of parental consanguinity among the two affected sibships in one family.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
7/15. Vascular basis for malformations in a twin.A twin is described who was born with ileal atresia and hydranencephaly, the co-twin having died at about 24 weeks' gestation. If a macerated or autolysed twin is found at birth, the paediatrician should be alerted to the possibility of serious and not immediately obvious defects in the surviving infant.- - - - - - - - - - ranking = 0.2keywords = anencephaly (Clic here for more details about this article) |
8/15. hydranencephaly in a twin gestation.hydranencephaly in a twin gestation was demonstrated prenatally by ultrasonography and confirmed following delivery by cranial computerized axial tomography (CAT). prenatal diagnosis of intracranial anomalies is possible with the use of ultrasonography. This is the third report of the occurrence of hydranencephaly in a twin gestation.- - - - - - - - - - ranking = 1.2keywords = anencephaly (Clic here for more details about this article) |
9/15. Detection by ultrasound of abnormality in twin pregnancies during the second trimester.Five cases of abnormality in twin pregnancies, detected by ultrasound examination during the second trimester, are reported. In four pregnancies there was a fetal malformation: discordant anencephaly, a monozygotic, heterokaryotypic twin pregnancy with coexistant Turner's syndrome and intrauterine death, concordant body stalk syndrome, and a dicephalus monster. In the other pregnancy one fetus dies in utero to become a fetus papyraceous. Four of the pregnancies were associated with raised levels of maternal serum alpha-fetoprotein, by singleton standards. Ultrasound examination proved of value in each case. Three pregnancies were terminated.- - - - - - - - - - ranking = 0.2keywords = anencephaly (Clic here for more details about this article) |
10/15. Development of EEG activity after ten days of electrocerebral inactivity: ten days of electrocerebral inactivity: a case report in a premature neonate-hydranencephaly or massive ventricular enlargement.This premature girl demonstrated electrocerebral inactivity in four records over a ten day period. After another eight days with no records, low voltage activity was present at a time when clinical responsiveness increased although the child never developed a prognostically favorable clinical state. The clinical responses never became well developed and the outlook never appeared favorable. If electrocerebral inactivity can be followed by active cortical function in a child who at best had islands of neurons on a deafferented cortex, then some recovery may potentially be possible in the premature child with post bleeding distress and electrocerebral inactivity with apparently present hemisphere tissue. It must be emphasized that "cerebral death" is a syndrome requiring more than electrocerebral inactivity alone. The presently accepted criteria of a single inactive EEG record is not sufficient evidence in itself to predict lack of potential survival in neonates. On the other hand, the return of EEG activity does not predict potential for recovery but only demonstrates a change in CNS function which has to be considered in conjunction with, but not in isolation of, other clinical data to assist the clinician.- - - - - - - - - - ranking = 0.8keywords = anencephaly (Clic here for more details about this article) |
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