Case report Medicine, Science and the Law 2015, Vol. 55(2) 82–85 ! The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav DOI: 10.1177/0025802414536153 msl.sagepub.com

Hydranencephaly in a case of suspected infanticide Andrea Verzeletti, Anna Leide and Francesco De Ferrari

Abstract 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. Keywords Hydranencephaly, suspected infanticide, stillbirth

Introduction Forensic investigation of fetuses, stillbirths and newborns and their differential diagnosis often present many difficulties. These bodies are often left in open-air places, and it is not always possible to identify their mother. Sometimes the medico-legal investigation is even more complex because of the putrefaction decay and post-mortem micro- and macro-fauna action. We report the case of fetal remains where the presence of maceration and postmortem artefacts, as well as an unusual abnormality of the central nervous system, resulted in a difficult diagnosis. To our knowledge, this is the second case report in forensic literature.1

Case report A body of an abandoned male baby was found lying on the grass of a garden, near a private house. The body was completely naked, with its umbilical cord lacerated at its placental end; the placenta was missing. Suspecting infanticide, the prosecutor ordered a medico-legal autopsy.

Autopsy findings

the fingers and toes were visible. The head was diffusely covered by black hair about 0.5 cm long; no abnormal masses were visible or palpable at the anterior and posterior fontanelles. The umbilical cord was 4 cm long, still anchored to the abdominal wall, untied and with its free end irregularly jagged and disrupted. On external examination, many areas of maceration were visible to the face, anterior surface of the chest and abdomen and upper and lower limbs (Figure 3). The left parietal bone was visible through an irregular scalp defect, showing small notches on the osteocartilagineal surface (Figure 4). The external surface of the skull was intact; the anterior and posterior fontanelles were 4  4 cm and 3  3 cm respectively. Once the cranium was opened, there was only abundant brown-coloured liquid, of water-like consistency, and a very small amount of pultaceus material at the cranial base; no tentoriuos cerebelli was identifiable (Figures 5 and 6). Cerebral arteries and the Willis’ Circle could not be found, although internal and external carotid arteries were found in the neck. No other abnormalities were found; organs were all present and macroscopically intact, although very soft and easily dispersed due to maceration (thymus 9 g; heart 10 g; right lung 12 g; left lung 11 g; liver 58 g; right kidney 5 g; left kidney 6 g). The testicles were correctly positioned in the abdomen cavity. The lungs were dark-red coloured, and solid

Grass and small leaves were seen on the body (Figures 1 and 2). The abdominal wall was diffusely green stained due to initial putrefaction. No congenital anomalies or deformities were observed. Universita` degli Studi di Brescia, Italy Anthropometric data were: length 44.5 cm; weight 1355 g; crown-rump length (CRL) 30 cm; head cirCorresponding author: cumference 29 cm; bisacromial diameter 7 cm; bitroAndrea Verzeletti, Universita` degli Studi di Brescia, Piazzale Spedali chanteric diameter 5 cm; foot length 5.6 cm. The Civili, 1 Brescia, 25123 Italy. testicles were not palpable in the scrotum. Nails of Email: [email protected] Downloaded from msl.sagepub.com by guest on November 15, 2015

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Figure 1. The fetus: frontal view.

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Figure 4. The scalp: small notches on the osteocartilagineal surface probably due to the action of teeth or nails of small animals.

Figure 2. The fetus: back view. Figure 5. Abundant brown-coloured liquid, of water-like consistency, in the cranium.

Figure 6. The empty cranium: a small amount of pultaceus material in the sub-tentorial region. Figure 3. The face: post-mortem injuries.Downloaded from msl.sagepub.com by guest on November 15, 2015

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Medicine, Science and the Law 55(2)

caused by the pressure of the presenting part of the scalp against the dilating cervix during delivery. To explain the death of the fetus, given the absence of signs of ante-mortem traumatic lesions, it is necesHistological findings sary to consider the findings inside the skull: abundant brown-coloured liquid, of water-like consistency, The lungs were in the saccular developmental stage. and a small amount of pultaceus material in the The walls of respiratory bronchioles, alveolar ducts sub-tentorial region. It must be assumed that the and alveoli were collapsed, without air inside. A post-mortem decay can hardly justify the pathological very low staining for surfactant at alveoli levels was findings in the case under discussion. In fact, even found through immunohistochemical staining. Skin considering that the brain is particularly vulnerable samples were analysed, showing mostly maceration to post-mortem decay, even in the later stages of areas. No haemorrhage, leukocytes or expression of this transformation, it tends to take on a ‘‘creamy’’ inflammatory molecules (P-Selectin) was seen. Some consistency and not the ‘‘watery’’ one found in this samples (from the forehead and occipital region where case. In any case, the good state of preservation of all the skin was intact) showed a little haemorrhagic infilother organs makes it even more difficult to attribute tration and a high P-Selectin expression. In samthe state of the brain to the simple post-mortem ples from the skull corresponding to scalp lesions, transformation. subperiosteal haemorrhagic infiltration without However, the almost complete replacement of P-Selectin expression was noted. At the umbilical the brain by abundant liquid of water-like consistcord, a reduced haemorrhagic infiltration with a ency suggests that the fetus had hydranencephaly. very intensive P-Selectin expression was found. Moreover, the enlarged head circumference (almost Other organs showed no pathological findings. 1 cm above that expected for 30 weeks gestational age) supports this hypothesis. Discussion Hydranencephaly is a very rare congenital condition characterised by the complete, or almost comThe macroscopic features of the lungs, in particular plete, absence of the cerebral hemispheres during their extremely compact appearance, indicate that, intrauterine development, and their replacement by once out of the womb, the fetus did not breathe indea cystic cavity with liquid content.2 The hallmark is pendently. Furthermore, histological investigations highlighted the compactness of the bronchi, the the extensive reduction in brain matter that has respiratory cavity collapse and the thickening of been replaced with cerebrospinal fluid. Infants with alveolar septa: all these elements indicate that there hydranencephaly have a reduced life expectancy, was not air in the lungs. The biometric collected data being either stillborn (more often) or dying within a (length, bisacromial diameter, bitrochanteric diamfew hours or weeks after birth, although McAbee eter, and foot length), the absence of ossification cenet al. reported two cases with 24 and 66 months surtres and the weight of the organs suggest that the fetus vival respectively,3 Bae et al. a case of a 22-year-old was around 30 weeks gestation. This is in agreement female,4 and Cecchetto et al. a 32-year-old Caucasian with the fact that the testicles were undescended. male.2 Some suspicious skin injuries, all characterized by The aetiology of this malformation is unknown, the absence of macroscopic and histological signs of and in some cases it is a complication of infections haemorrhagic infiltration, were due to maceration, contracted by the mother during pregnancy, especially while others were consistent with both the frictional toxoplasma or cytomegalovirus, while according to forces due to contact of the skin surface of the fetus other authors, it is due to an abnormal development with the ground and with the action of the micro- and of the fetal arteries (particularly carotid arteries) macro-fauna. In this regard, it should be noted that spraying the brain.5–10 the small notches on the osteocartilagineal surface of It is still debated when this malformation occurs, one lesion on the scalp in the left parietal region although it is generally accepted from the 12th to 26th (Figure 4) are consistent with the action of teeth or gestational week, because any later than this and there nails of small animals such as rats, cats, small dogs, would be multicystic encephalomalacia instead of and so on. hydranencephaly.11–15 The only exceptions were the histological pattern The elements now reported suggest that the fetus characterizing fragments of intact skin sampled from was suffering from hydranencephaly, that a preterm the occipital region and the forehead (Figure 3), where birth occurred, and that, once extracted from the the haemorrhagic infiltration of subcutaneous adipose womb, the fetus did not breathe independently. tissue was accompanied by an initial fibrinous reticuMoreover, the presence of a disrupted and untied lar and some white cells. However, these elements are umbilical cord suggests that the delivery was consistent with a ‘caput succedaneum’, a condition unassisted. involving a serosanguinous, subcutaneous, extraperAlthough very rare, hydranencephaly should be iosteal fluid collection with poorly defined margins kept in mind by forensic pathologists dealing with Downloaded from msl.sagepub.com by guest on November 15, 2015 in consistency. Once the distal epiphysis of the right femur was cut, no ossification centres were found.

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fetuses or newborns, above all because these cases often concern women living in economic and social difficulties, with a high chance of being exposed to pathogens and poor antenatal care including ultrasound examinations during pregnancy that could discover this (or other) congenital malformation. Funding This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

References 1. Ohshima T, Kondo T, Lin Z, et al. Suspected maternal infanticide in a case of hydranencephaly. Int J Leg Med 1993; 105: 351–354. 2. Cecchetto G, Milanese L, Giordano R, et al. Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol 2013; 48: 152–158. 3. McAbee GN, Chan A and Erde EL. Prolonged survival with hydranencephaly: report of two patients and literature review. Pediatr Neurol 2000; 23: 80–84. 4. Bae JS, Jang MU and Park SS. Prolonged survival to adulthood of an individual with hydranencephaly. Clin Neurol Neurosurg 2008; 110: 307–309. 5. Piantaz D, Joannard A, Pasquier B, et al. Hydranencephaly and congenital toxoplasmosis. A propos of 4 cases. Pediatrie 1987; 42: 161–165. 6. Tsai JD, Kuo HT and Chou IC. Hydranencephaly in neonates. Pediatr Nonatol 2008; 49: 154–157.

7. Lam YH and Tang MHY. Serial sonographic features of a fetus with hydranencephaly from 11 weeks to term. Ultrasound Obstet Gynecol 2000; 16: 77–79. 8. Stevenson DA, Hart BL and Clericuzio CL. Hydranencephaly in an infant with vascular malformations. Am J Med Genet 2001; 104: 295–298. 9. Jordan L, Raymond G, Lin D, et al. CT angiography in a newborn child with hydranencephaly. J Perinatol 2004; 24: 565–567. 10. Quek YW, Su PH, Tsao TF, et al. Hydranencephaly associated with interruption of bilateral internal carotid arteries. Pediatr Neonatol 2008; 49: 43–47. 11. Lin YS, Chang FM and Liu CH. Antenatal detection of hydranencephaly at 12 weeks, menstrual age. J Clin Ultrasound 1992; 20: 62–64. 12. Vaneckova M, Seidl Z, Goldova B, et al. Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly) – case report. Brain 2010; 32: 417–420. 13. Poe LB and Coleman L. MR of hydranencephaly. AJNR Am J Neuroradiol 1989; 10: S61. 14. Taori KB, Sargar KM, Disawal A, et al. Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas. Pediatr Radiol 2011; 41: 270–273. 15. Hahn JS, Lewis AJ and Barnes P. Hydranencephaly owing to twin-twin transfusion: serial fetal ultrasonography and magnetic resonance imaging findings. J Child Neurol 2003; 18: 367–370.

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Hydranencephaly in a case of suspected infanticide.

An abandoned fetus with suspicious skin injuries was found dead, lying on the grass of a garden, near a private house. Suspecting infanticide, the pro...
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