A two-month-old girl was admitted to a pediatric university hospital because of convulsions (Table 1). Twenty days prior to admission she was seen by her local doctor because of a 1st to 2nd degree burn of the chest (<10% total body surface). According to the caregivers this resulted from a leaking bottle cap. Although the pattern could be consistent with this explanation there was a delay in presentation at that time which, in retrospect, should have warranted further evaluation.
On admission cranial ultrasonography showed diffuse hyperechogeneity of the brain parenchyma with increased demarcation of the white matter—cortical border; flow reversal as a sign of increased cranial pressure was also seen (Fig. 1). Computed tomography performed 1 day after admission showed diffuse severe ischemic brain injury (Fig. 2). Skeletal survey findings are shown in Table 2. Fundoscopy showed bilateral intra- and pre-retinal hemorrhages. MRI on day 7 showed a post-anoxic brain with a subdural hematoma. A subsequent MRI performed on day 38 showed MCE (Fig. 3).
The clinical, ophthalmological and radiological findings were all highly suggestive of AHT. The girl died at the age of five-and-a-half months, and as the death was related to child abuse a judicial autopsy was performed.
Neuropathological examination of the brain and the spinal cord revealed a unilateral, several month old neo-membrane, consistent with an old subdural hematoma. The neo-membrane showed complete organization with moderately cellular connective tissue, normal size blood vessels and extensive iron deposits. There was evidence of several small recent rebleedings in the neo-membrane as well. The brain was extremely atrophic, weighing 200 g (normal weight for age approximately 490 g) . Atrophy was due to a diffuse loss of the cerebral cortical neurons and mainly subcortical necrosis of the white matter. In these areas small to medium sized cavitations occurred (Table 3). The deep white matter revealed extensive reactive gliosis but no cavitation. The ventricular system was moderately enlarged. The cerebellum was less affected; loss of the Purkinje cells and the small neurons of the granular layer were observed in the depths of the cerebellar folia, whereas more superficially neurons were mainly spared. The brainstem and the spinal cord showed no major abnormalities apart from secondary degeneration of the corticospinal tracts due to the loss of cortical motor neurons.
Severe MCE was considered to be related to a generalized hypoxic accident which must have occurred several months prior to the patient’s demise. The cause of death was ruled as a result of brain dysfunction.
A four-month-old boy was admitted to a pediatric university hospital (Table 1). According to the parents he suddenly became unresponsive during feeding.
On admission computed tomography showed a subdural hematoma near the falx cerebri (Fig. 4). Skeletal survey findings are shown in Table 2. Fundoscopy showed bilateral retinal hemorrhages and right-sided pre-retinal hemorrhages. There were no bruises or other visible lesions at admission. CT on day 2 of admission showed again the subdural hematoma, but also signs of a disturbed flow posteriorly. MRI on day 4 showed signs of severe of cerebral hypoxia and multicystic encephalomalacia (Fig. 5). A subsequent MRI, performed on day 17 confirmed multicystic encephalomalacia. He died at the age of 3 years.
The neuropathological examination revealed a partly hyalinised, unilateral neo-membrane consistent with an at least 12-months-old subdural hematoma. The brain was atrophic (weight 480 g—normal for age approximately 1,140 g). The cerebral hemispheres and the cerebellum showed loss of almost all neurons in the cortex as well as in the subcortical cerebral and cerebellar nuclei. The cerebral hemispheres showed multiple small cysts in the subcortical white matter of the frontal, temporal and parietal lobes and in the subcortical and deeper parts of the white matter of the occipital lobes (Fig. 6). The ventricular system was significantly dilated. The brainstem revealed loss of neurons in the brainstem nuclei, mineralization of neuronal bodies and capillaries, small cavitations around the aqueduct and the fourth ventricle and secondary degeneration of the long tracts due to the loss of the cortical nuclei.
Histological examination of the eyes showed iron deposits in both eyes, anteriorly as well as posteriorly. Both eyes also showed atrophy of the retina.
The boy died as a result of an infection, clinically most likely a pulmonary infection although at autopsy no signs of a pulmonary infection were seen.
A six-week-old boy presented to an outpatient clinic because of increasing head circumference. Ultrasound showed benign enlargement of the subarachnoid space (BESS) (Table 1). One day later the child was found unresponsive and resuscitation was performed. At admission a bruise on the right side of the face was seen. CT, performed upon admission in a pediatric university hospital, showed wide a subarachnoid space with signs of subarachnoid hemorrhage (Fig. 7). MRI performed 2 days after admission showed diffuse cerebral atrophy, abnormal white matter signal intensity and bilateral subdural hematomas. Fundoscopy showed no retinal hemorrhages. On skeletal survey fractures of the sixth and seventh rib were seen (Table 2).
The boy remained in a permanent vegetative state and more than one year after the initial incident died. As child abuse was the cause of the initial incident, a judicial autopsy was performed.
The neuropathological examination showed a bilateral, at least several months old, neo-membrane of collagenized connective tissue with normal sized capillaries, iron deposits and small recent hemorrhages. The brain was atrophic weighing about half of normal (430 g—normal weight approximately 925 g). Microscopy of the basal ganglia showed total loss of cortical and subcortical cerebral neurons, diffuse reactive gliosis, atrophy of the subcortex and subcortical small to medium-sized cavities mostly in the frontal and temporal lobes. There was a large cavum septum pellucidum and significant enlargement of the lateral and the third ventricle. The cerebellum showed patchy degeneration of the cortical neurons with remaining neurons on the outers sections of some cerebellar folia. In the brainstem degeneration of the olivary neurons was found with other nuclei showed varying degrees of neuronal loss. The spinal cord revealed secondary degeneration of the long tracts.
Histological examination of the eyes showed no iron deposits in either eye.
The cause of death was ruled to be the result of a pulmonary infection in combination with a poor clinical condition, resulting from the initial AHT.
A seven-day-old girl was found unresponsive in bed. Upon emergency transport to a pediatric university hospital she was intubated with a Glasgow coma scale of E1M1Vtube (Table 1).
CT scan showed diffuse cerebral ischemia, white cerebellar sign, both a subdural and subarachnoid hematoma, and a fracture of the left orbit (Fig. 8). Skeletal survey findings are shown in Table 2. Fundoscopy was normal without signs of retinal hemorrhage.
As the clinical and radiological findings were inconsistent with the presented history AHT was suspected. Although eventually AHT was proven in this case no prosecution could be started as the perpetrator could not be identified. On day 27 after the incident the child suffered brain death.
The neuropathological examination showed a few-weeks old neo-membrane of cellular, discretely collagenized connective tissue with small capillarys. On the arachnoid surface of the neo-membrane was located an at most few days old blood clot consisting of erythrocytes and few fibroblasts on the dural surface. There was recent subarachnoid hemorrhage on the poles of both temporal lobes. The brain was atrophic (weight 330 g—normal weight for age approximately 490 g). The cerebral hemispheres consisted of multiple, mainly large cysts covered only by remnants of the molecular layer of the cortex and extending into the whole subcortex (Fig. 9). Only several gyri of the parietal lobe showed extensive gliosis, loss of the cortical neurons but no cavitation. There was mineralization of parts of the scar tissue and extreme distension of the ventricular system. The cerebellum and the brain stem were spared and revealed normal architecture and no substantial cell loss. The spinal cord showed secondary degeneration of the corticospinal tracts.
The cause of death was ruled to be general brain dysfunction as a result of previously sustained trauma.
A fifteen-month-old boy suffered AHT at the age of 3 weeks. At that time imaging showed subarachnoid, subdural and intraparenchymal hemorrhages. Fundoscopy showed bilateral retinal hemorrhages. Skeletal survey findings are shown in Table 2. A shaking incident was admitted by the father (Table 1).
After the incident the child had severe long term complications: hydrocephalus (for which a ventriculoperitoneal shunt, VPD, was inserted), failure-to-thrive for which a percutaneous gastrostomy was inserted, and severe epilepsy. Several days prior to his demise his clinical situation deteriorated severely. Post mortem CT showed hydrocephalus and multicystic encephalomalacia (Fig. 10).
The neuropathological examination revealed an acute bacterial meningitis and ventriculitis. There were no signs of extension of the infection into the brain parenchyma. The dura showed a patchy, acute inflammatory infiltrate. Distinct subdural hemorrhage was not found in the examined parts of the dura, although there were some intradural iron deposits. The cerebral hemispheres showed extensive loss of cortical and subcortical neurons and in part asymmetrical atrophy of the white matter, with small and larger cavities especially in the left cerebral hemisphere. The cerebellum revealed irregular loss of neurons predominantly in the depths of the cerebellar folia with reactive glial changes and no cavitation. The dentate nucleus, the brain stem and the spinal cord showed no neuronal loss; there was a secondary degeneration of the long tracts due to the loss of cortical neurons.
Histological examination of the eyes showed iron deposits in both eyes.
Purulent meningitis was ruled to be the cause of death.