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Timely detection of severe infratentorial hemorrhage in neonates is crucial, especially in case of life-threatening brain stem compression and/or acute obstructive hydrocephalus, which need lifesaving neurosurgical intervention. Although the detection of infratentorial hemorrhage by ultrasound scanning is often considered as difficult, the use of additional acoustic windows and recognition of characteristic ultrasound features facilitate early diagnosis. In this case series, we report on newborns with severe, symptomatic infratentorial hemorrhage detected primarily by cranial ultrasound. We demonstrate the characteristic ultrasound features present in all cases and discuss how ultrasound diagnosis contributed to early diagnosis and treatment. [ABSTRACT FROM AUTHOR]

A term neonate displayed typical features of nonketotic hyperglycinemia (NKH). Conventional magnetic resonance imaging showed corpus callosum hypoplasia and increased signal intensity of the white matter.Magnetic resonance proton spectroscopy revealed high cerebral glycine levels. The liquor/plasma glycine ratio was increased. Genetic testing detected a known and a novel mutation in the glycine decarboxylase gene, leading to the classic form of glycine encephalopathy. Prenatal genetic testing in the subsequent pregnancy showed that this fetus was not affected. As features of neonatal NKH may not be very specific, recognition of the disease may be difficult. An overview of clinical, electroencephalography, and neuroimaging findings is given in this article. [ABSTRACT FROM AUTHOR]

We report a case of congenital brainstem disconnection including the second detailed autopsy. A full-term newborn presented with irreversible apnoea and died on the fifth day. MRI revealed disconnection of the brainstem. The autopsy included a series of transverse sections of the mesencephalon, medulla oblongata and bridging tissue fragments. A fragile tube walled by mature brainstem tissue could be reconstructed. It enveloped a cylinder of fluid within the ventral pons extending to the mesencephalon and the lower brainstem. The aqueduct was patent and outside the lesion. The basilar artery was represented by a tiny median vessel. The ventral and lateral parts of the posterior brainstem were surrounded by heterotopic glial tissue. The olivary nucleus was absent and the cerebellar dentate nucleus was dysplastic. Considering the maturity of the remaining parts of the pons, the onset of structural decline is likely to be close to the time of birth. Probable causes are progressively insufficient perfusion through an hypoplastic basilar artery, and obstructed venous drainage through an abnormal glial barrier surrounding the posterior brainstem. The morphological findings can be characterized as a syrinx, known from disorders in which brainstem or spinal cord are damaged by a combination of mechanical and circulatory factors. [ABSTRACT FROM AUTHOR]

Although bilateral injury to the thalami is often seen in (near)term infants with hypoxic ischemic encephalopathy (HIE), symmetrical thalamic lesions (STL) is a different, very rare condition, seen both in full-term and preterm infants often after an antenatal insult, although the history is not always clear. These lesions are usually first detected using cranial ultrasound (cUS). They may not always be seen on the first (admission) scan, but become apparent in the course of the 1st week after birth. Clinically, these infants present with hypo- or hypertonia, absence of sucking and swallowing reflexes, and they may have contractures and facial diplegia. Neuropathology commonly demonstrates a thalamic lesion with additional and variable involvement of basal ganglia and brainstem. The prognosis is very poor, the condition often leads to severe disabilities and/or death within the first years of life. The clinical course and neuroimaging findings of 13 patients with symmetrical thalamic lesions (STL) are reported., Competing Interests: None., (Georg Thieme Verlag KG Stuttgart · New York.)

Aim: Magnetic resonance imaging (MRI) is increasingly being used in high-risk preterm neonates. Cranial ultrasound (US) was compared with MRI in preterm patients with parenchymal injury and related to neurodevelopmental outcome., Patients and Methods: Studies were performed in 61 patients. Twelve infants with normal US (Group 1) had an MRI within the first 4 weeks of life (early MRI), and 10 also at term age (late MRI). Eight out of 20 infants with intraventricular haemorrhage with parenchymal involvement (IVH + PI) (Group 2) had an early as well as a late MRI and 12 a late MRI. Of the 20 patients with cystic-periventricular leukomalacia (c-PVL) (Group 3), 7 had an early MRI, 1 had an MRI on both occasions and 12 had a late MRI. All 9 children with focal infarction (FI) (Group 4) had a late MRI., Results: MRI was conform with cranial US in Group 1. Early MRI in Group 2 showed contralateral c-PVL in one infant and an additional contralateral occipital parenchymal haemorrhage and blood in the posterior fossa in another infant. Late MRI showed an asymmetrical posterior limb of the internal capsule (PLIC) (n=6), which predicted later hemiplegia. Early MRI in Group 3 showed more cysts (n = 5), punctate white matter lesions (n = 6), lesions in the basal ganglia (n = 1) and once involvement of the cerebellum. Late MRI showed involvement of the centrum semiovale (n = 2) lesions in the basal ganglia (n = 2) and bilateral abnormal signal intensity of the PLIC in 7 infants who all went on to develop cerebral palsy. In Group 4 MRI showed signal intensity changes suggestive of cystic lesions compared to persisting echogenicity on US (n = 3) and an asymmetrical PLIC (n = 5), which predicted hemiplegia in 4., Conclusion: Early MRI especially provided additional information in those with c-PVL. MRI at term age could assess the PLIC, which was useful in children with unilateral parenchymal involvement, for prediction of subsequent hemiplegia and, to a lesser degree, in bilateral c-PVL for prediction of diplegia or quadriplegia.

Cerebral metabolic abnormalities have been previously detected by 1H-MRS in infants with the Zellweger syndrome as young as 3 months. We hypothesized that metabolic abnormalities could also be found shortly after birth. Two fullterm infants with Zellweger syndrome were studied at 12 days and two months of age, respectively, using single voxel 1H-MRS. In the first case 1H-MRS was performed using PRESS with variable TE (31, 136, 272 ms); in the second, STEAM and PRESS sequences were used with different TE (STEAM at 30 and 144 ms; PRESS at 270 ms). In both cases a significant decrease of N-acetylaspartate (NAA) and an abnormal signal at 1.33 and 0.9 ppm, consisting of lactate (Lac) and lipids (Lip) were found. The reported MRS abnormalities, although not specific for peroxisomal dysfunctions, may support the suspicion of Zellweger syndrome and may indicate direct referral to the specific laboratory and molecular studies necessary to establish the diagnosis and prognosis of this syndrome.

A longitudinal prospective follow-up study looking at the correlation between haemorrhagic-ischaemic lesions on neonatal cranial ultrasound (US) and the development of cerebral visual impairment (CVI) in infancy resulted in the detection of nine infants with severe visual impairment, which was not due to opthalmological abnormalities. Extensive cystic leukomalacia proved to be highly predictive of CVI, as well as of severe mental and motor deficit in these nine infants. The present report outlines the results of different examinations (acuity card procedure [ACP], visual evoked potential [VEPs], magnetic resonance imaging [MRI]) performed during the first 18 months, to find out which combination of examinations would be the most predictive of CVI at an early stage. The results indicated that infants with a gestational age of 35 weeks or more, who sustained extensive cystic leukomalacia during the neonatal period, and were subsequently not fixating at the acuity cards at term and at three months of age, invariably developed CVI. VEPs were also severely abnormal in the infants with the worst visual outcome, but were not providing a more reliable prognosis. Also, a good correlation between MRI-abnormalities of the optic radiations and/or the visual cortex and CVI was found, but MRI was usually performed beyond the age of 12 months.

To study cerebral metabolism in neonates after unilateral cerebral infarcts 4 neonates (3 full-terms, one preterm with a gestational age of 35 weeks) with unilateral cerebral infarcts were examined at 7 to 49 days of postnatal age, using proton magnetic resonance spectroscopic imaging (1H-MRSI). Three neonates had infarcts of the left middle cerebral artery (MCA), one had a right posterior cerebral artery infarct and a more localized anterior lesion. Examinations were repeated in the three fullterm infants aged 2-3 months. Lactate resonances, which are not present in normal brain after term age, were demonstrated in two patients tested at 7 and 10 days of age respectively, and in one of them lactate was still present at two months. In all four neonates a decrease of the N-acetylaspartate/choline (NAA/Cho) ratio was seen within the area of infarction. Repeated MRS of two infants at three months showed an increase in NAA/Cho ratios in all brain areas, but values remained below normal in the infarcts. In the third infant a further decrease in the NAA/Cho ratio was demonstrated in the area of infarction at two months. The NAA/Cho ratios in the surrounding and contralateral brain tissue were normal in all infants. All three infants with a MCA infarct developed a hemiplegia. The aforementioned metabolic alterations in neonates with cerebral infarcts, demonstrated using 1H-MRSI, were found to be confined to the area of infarction and abnormalities persisted beyond the neonatal period.

On the basis of detection of cardiac tumours and an intracerebral subependymal mass, the diagnosis of tuberous sclerosis was made in a fullterm neonate. To evaluate cerebral metabolism cerebral mass proton magnetic resonance spectroscopic imaging (1H-MRSI) was performed. A local decrease in N-acetyl-aspartate (NAA), and an increase in choline signals were found. Lactate could neither be demonstrated in the subependynal nodule, nor in the surrounding tissue, thereby rendering the possibility of a high-grade malignant tumour less likely. No major changes were found at 3 and 6 months of age. The present study demonstrates, that 1H-MRSI may be helpful in metabolic evaluation of cerebral masses in patients with tuberous sclerosis.

During a period of 30 months, 504 infants of 34 weeks gestation or less were enrolled in a prospective cranial ultrasound study. Ninety-two (18.4%) infants developed different degrees of periventricular leukomalacia (PVL), being transient periventricular echogenicities (PVE) in 75, localised cystic lesions in 7 and extensive cysts in 10. Eight of 75 (10.6%) infants with PVE, 4 of the 6 (66.6%) survivors with localised cysts and all 8 survivors with extensive cysts developed cerebral palsy in infancy and MRI studies could be performed in 15 of these 20 infants between 11 and 32 months of age. Neurological sequelae were most severe among the infants with extensive cysts and none were able to walk, while 6 of the 12 who developed cerebral palsy following either PVE or localised cysts had learned to walk independently. There appeared to be a good correlation between the degree of PVL, diagnosed using ultrasound, and the extent of MRI changes noted in infancy. Ventricular enlargement and delay in myelination were more common in infants with cystic lesions and periventricular hyperintensity (PVHI) was present in all infants, but most extensive in the cases with extensive cysts. MRI performed later in infancy may, even in the absence of neonatal cranial ultrasound, provide information about both the presence as well as the degree of leukomalacia, which the child may have suffered in the neonatal or antenatal period.