Growing skull fractures are rare complications of head injury, occurring almost exclusively in infants and children under the age of three. A retrospective review at our Institute yielded 41 patients with this entity over a period of 20 years (1975-1995). The age at presentation ranged from less than 1 year to 62 years, with 33 (80.5%) patients being less than 5 years of age. The cause of injury was either a fall from a height (93%) or a road traffic accident. The most common location of a growing skull fracture was either parietal or frontoparietal (56%). One patient had a posterior fossa growing skull fracture. CT scan was performed in 19 patients which demonstrated an underlying porencephalic cyst, hydrocephalus or a cyst communicating with the ventricle. In 5 children, a ventriculo-peritoneal shunt alone was performed. Twenty four patients underwent a duro- and cranioplasty while a duroplasty alone was performed in 8 patients. The material used for cranioplasty included acrylic, wire mesh, steel plates or autologous bone. Three patients died, one due to an anaesthetic complication and two as a result of postoperative meningitis. Post-operative CSF leaks occurred in 3 patients, which were managed by a lumbar drain. Six patients had local wound infection.
Although individual cases of inherited metabolic disorders are rare, overall they account for a substantial number of disorders affecting the central nervous system. Organic acidemias and aminoacidopathies include a variety of inborn errors of metabolism that are caused by defects in the intermediary metabolic pathways of carbohydrates, amino acids, and fatty acid oxidation. These defects can lead to the abnormal accumulation of organic acids and amino acids in multiple organs, including the brain. Early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurologic impairments or death. Neuroimaging findings can be nonspecific, and metabolism- and genetics-based laboratory investigations are needed to confirm the diagnosis. However, neuroimaging has a key role in guiding the diagnostic workup. The findings at conventional and advanced magnetic resonance imaging may suggest the correct diagnosis, help narrow the differential diagnosis, and consequently facilitate early initiation of targeted metabolism- and genetics-based laboratory investigations and treatment. Neuroimaging may be especially helpful for distinguishing organic acidemias and aminoacidopathies from other more common diseases with similar manifestations, such as hypoxic-ischemic injury and neonatal sepsis. Therefore, it is important that radiologists, neuroradiologists, pediatric neuroradiologists, and clinicians are familiar with the neuroimaging findings of organic acidemias and aminoacidopathies. RSNA, 2018.
BACKGROUND AND PURPOSE Neonatal hypoxic‐ischemic injury of the brain and resultant encephalopathy (HIE) leads to major developmental impairments by school age. Conventional/anatomical MRI often fails to detect hippocampal injury in mild cases. We hypothesize that diffusion tensor imaging (DTI) has greater sensitivity for identifying subtle hippocampal injury. METHODS We retrospectively analyzed DTI data collected from a cohort of neonates with HIE and controls. Conventional MRI sequences were classified qualitatively according to severity using a modified Barkovich scale. Using multivariate linear regression, we compared hippocampal DTI scalars of HIE patients and controls. Spearman correlation was used to test the association of DTI scalars in the hippocampal and thalamic regions. A multiple regression analysis tested the association of the DTI scalars with short‐term outcomes. RESULTS Fifty‐five neonates with HIE (42% males) and 13 controls (54% males) were included. Hippocampal DTI scalars were similar between HIE and control groups, even when restricting the HIE group to those with moderate‐to‐severe injury (8 subjects). DTI scalars of the thalamus were significantly lower in the moderate‐to‐severely affected patients compared to controls (right fractional anisotropy [FA] .148 vs. .182, P = .01; left FA .147 vs. .181, P = .03). Hippocampal and thalamic DTI scalars were correlated (P < .001). Hippocampal DTI scalars were not associated with short‐term outcomes. CONCLUSIONS Quantitative DTI analysis of the hippocampus in neonates following HIE is a feasible technique to examine neuronal injury. Although DTI scalars were useful in identifying thalamic injury in our cohort, hippocampal DTI analysis did not provide additional information regarding hippocampal injury following HIE.
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