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Suspected maternal infanticide in a case of hydranencephaly
Abstract
A medico-legal autopsy case of hydranencephaly in a male infant which was first suspected of maternal infanticide is reported. The infant was 48 cm in height, weighed 2.86 kg and the circumference of the head, the chest and the abdomen was 32.2 cm, 31.0 cm and 30.4 cm, respectively, with no deformities of the head or body. Autopsy examination, however, revealed a severe defect in the central nervous system. The cranial cavity was filled with a cloudy dark red fluid (ca. 310 ml) instead of the cerebral hemispheres. The residual central nervous tissues were mostly subtentorial structures from the midbrain to the spinal cord namely, corpus mamillare, corpora quadrigemina, corpus pineale, crus cerebri, pons, cerebellum, medulla oblongata and spinal cord. The basal ganglia, thalamus, hypothalamus and chiasma opticum could not be found, although atrophic hypophysis, eyeballs and optic nerves were present. The usual distribution of cerebral blood vessels, especially the branches of the anterior and middle cerebral arteries and Willis' ring, was absent despite the presence of the internal and external carotid arteries. Other organs were, in general, congestive. The marked cortical atrophy of the adrenal glands (left 0.5 g, right 0.6 g), especially the zona fasciculata, was characteristic. The hydrostatic lung test gave partially positive results, but this was considered to be due to artificial respiration by an ambulance man because amniotic fluid components were microscopically noted and fully expanded alveoli were not found. In conclusion, the cause of the infant's death was diagnosed as stillbirth due to aspiration of amniotic fluid caused by the severe defect of vegetative hypothalamic function through hydranencephaly.
... This is the third case study in forensic literature that we are aware of [4,5]. ...
Hydranencephaly is a central nervous system disorder at birth in which brain's cerebral hemispheres are absent and replaced by sacks filled with CSF. The prevalence of hydranencephaly is less than 1 in 10,000 births, with 0.2 percent of children autopsies showing the condition.
... Intrauterine infections, particularly toxoplasmosis [24] and viral infections (enterovirus, adenovirus, parvovirus, cytomegalic, herpes simplex, Epstein-Barr, and respiratory syncytial viruses) have been implicated in a number of cases [25][26][27][28]. Toxic exposures, such as smoking and cocaine abuse, [29][30][31][32] estrogens [33,34] and sodium valproate [35] have also been reported. HE has been associated with young maternal age [36] and has been described in association with rare syndromes. ...
The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months.
Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the cerebral mantle. In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid. Midbrain is usually not involved. Hydranencephaly is a relatively rare cerebral disorder. Differential diagnosis is mainly relevant when considering severe hydrocephalus, poroencephalic cyst and alobar holoprosencephaly. Ethical questions related to the correct criteria for the surgical treatment are also discussed.
Hydranencephaly is defined as a subtotal congenital absence of the cerebral hemispheres, with a vascular pattern in areas supplied by the anterior and middle cerebral arteries with intact meninx and skull; the resulting cavity being filled with cerebrospinal fluid. Its is classified as a circulatory encephalopathy. At birth, children may be normal, but frequent screaming is common from the first days. Enlargement of the head as well as seizures of several types have been described. A characteristic picture of gross retardation, blindness and spastic cuadriparesis develops. Hydranencephaly is easily diagnosed by CT scanning and MRI. MR angiography is useful in differentiating hydranencephaly from other congenital brain malformations, especially maximal hydrocephallus. The distinction between them should be made promptly because of different prognosis and treatment.
An abandoned fetus with suspicious skin injuries was found dead, lying on the grass of a garden, near a private house. Suspecting infanticide, the prosecutor ordered a medico-legal autopsy. The cause of death was identified as a congenital malformation of the central nervous system such as hydranencephaly, and infanticide was excluded.
In the case described, a completely uncomplicated pregnancy ended with a fatal outcome. Intrauterine fetal death, which was diagnosed prepartum at 40 weeks of gestation, was caused by hemorrhage of the fetus into the amniotic fluid following rupture of the umbilical vein at the site of furcate insertion of the umbilical cord. This insertion anomaly accompanied by rupture of a vessel occurs only very rarely but represents a placental cause of an abrupt and unpredicted end of a pregnancy. Although this process involved trauma, from a medico-legal point of view, there was no sign of external impact and death could, therefore, be classified as natural.
The case reported here relates to a male infant with hydranencephaly who was born at 37 weeks of gestation and died immediately after birth. Post-mortem examination revealed that the cerebral hemispheres had been replaced by fluid-filled cavities within a normal-sized cranium. The membranous hemispheric wall was composed of gliosed tissue with multiple foci of necrosis and hemosiderin-laden macrophages. The ependyma was absent. Many necrotic foci containing hemosiderin were also found around the aqueduct and fourth ventricle. These findings suggest that hemorrhagic necrosis had occurred throughout the periventricular region, and more severely in the cerebral hemispheres. Moreover, numerous glioneuronal nests were found throughout the subarachnoid space and ventricles. Glioneuronal nests, if present, are usually minimal in hydranencephaly, whereas it is one of the pathological features of multicystic encephalopathy. The transition of multicystic encephalopathy to hydranencephaly has been demonstrated repeatedly. The former is a condition resulting from a severe circulatory disturbance, most often at the end of gestation or in the perinatal period. These lesions date later than hydranencephaly. Considering that numerous glioneuronal nests were found in the present case, it is likely that the encephaloclastic process developed toward the end of gestation.
A fatal case of congenital toxoplasmosis is reported. Placental findings and features of hydranencephaly found at autopsy are described and briefly analyzed. The case serves as an example of the importance of placental examinations. Such examinations, unfortunately, have often been neglected in routine evaluation of the sick neonate.
Hydranencephaly may result from any of a variety of destructive or developmental abnormalities which may act to produce the defect at any time from the end of the 3rd month of gestation to the 2nd year of postnatal life. They have in common the effect of markedly reducing the total mass of cerebral tissue. Among the several forms presented, a previously unreported variety related to severe lissencephaly has been described. Although during long survival progressively increasing cranial size is common, and hydrocephalus usually has an accessory role in morphogenesis, there is no firm evidence that obstructive hydrocephalus operating as the only pathogenetic mechanism can reduce the cerebrum to membrane thickness within a cranium of relatively normal size. The finding of a transilluminable cranium of normal size, therefore, indicates the probability of an underlying destructive process or malformation.Normal anatomic relations, interconnections, and histologic structure are usually preserved among surviving elements of basal ganglia and brain stem tegmentum. In contrast with these, thalamic atrophy, hypoplasia of the cerebral peduncles and basis pontis, and absence of the medullary pyramids are characteristic of almost all cases. Cerebellar abnormalities are not uncommon, produced, when present, by the same pathologic process responsible for the cerebral abnormality. Integrity of the brain stem tegmentum, the hypothalamus, and probably some part of the corpus striatum are probably necessary for long survival.
Data are presented to define a unique group of preeclamptic/eclamptic patients with the finding of hemolysis (H), elevated liver enzymes (EL), and a low platelet count (LP). This entity has been termed the HELLP syndrome and may occur when the usual clinical findings to diagnose severe preeclampsia are absent. Often the patient is given a nonobstetric diagnosis and treatment is withheld or modified. The possible pathophysiology of this syndrome, the management of the patient, and the maternal and neonatal outcomes are presented. Recognition of the clinical and laboratory findings of the HELLP syndrome is important if early, aggressive therapy is to be initiated to prevent maternal and neonatal death. The practicing obstetrician must be knowledgeable about this severe consequence of hypertension in pregnancy.
Data are presented to define a unique group of preeclamptic/eclamptic patients with the finding of hemolysis (H), elevated liver enzymes (EL), and a low platelet count (LP). This entity has been termed the HELLP syndrome and may occur when the usual clinical findings to diagnose severe preeclampsia are absent. Often the patient is given a nonobstetric diagnosis and treatment is withheld or modified. The possible pathophysiology of this syndrome, the management of the patient, and the maternal and neonatal outcomes are presented. Recognition of the clinical and laboratory findings of the HELLP syndrome is important if early, aggressive therapy is to be initiated to prevent maternal and neonatal death. The practicing obstetrician must be knowledgeable about this severe consequence of hypertension in pregnancy.
A case of hydranencephaly - an autopsy case suspected of an infanticide
- M Ueda
- N Ishida
- S Hamana
- H Egi
Reports on medico-legal data from the massive investigation performed by the medico-legal society of Japan - Weight and size of internal organs of normal Japanese today
- Investigation Committee of the Medico-Legal Society of Japan