Raghu H. Ramakrishnaiah

Pontine Tegmental Cap Dysplasia With a 2q13 Microdeletion Involving the NPHP1 Gene: Insights Into Malformations of the Mid-Hindbrain

The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome--although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations included a magnetic resonance image of the brain, that was found to be consistent with pontine tegmental cap dysplasia. Chromosomal microarray studies showed a 2q13 deletion. A gene associated with Joubert syndrome, NPHP1, is within this region. This case highlights several important aspects of the diagnosis and nosology of malformations of the mid-hind brain.

Imaging findings in 512 children following all-terrain vehicle injuries.

BackgroundInjuries related to all-terrain vehicle (ATV) use by children have increased in recent years, and the pattern of these injuries is not well known among radiologists.ObjectiveOur purpose was to identify different radiologically diagnosed injuries in children suffering ATV-related trauma and determine associations among various injuries as well as between injuries and outcome.Materials and methodsThe study included 512 consecutive children suffering from ATV injuries treated at a tertiary care pediatric hospital. All imaging studies were reviewed and correlated with injury frequency and outcome using multivariate analysis.ResultsHead injuries occurred in 244 children (48%) and in five of six deaths. Calvarial skull fractures occurred in 104 children and were associated with brain, subdural and epidural injuries. Brain and orbit injuries were associated with long-term disability. A total of 227 extremity fractures were present in 172 children (34%). The femur was the most commonly fractured bone. Nine children had partial foot amputations. Multiorgan injuries occurred in nearly half of the 97 children with torso injuries. Determinants for long-term disability or death were head injuries (odds ratio 3.4) and extremity fractures (odds ratio 3.3).ConclusionHead and extremity injuries are the two most common injuries in children suffering ATV injuries and are associated with long-term disability. ATV use by children is dangerous and is a significant threat to child safety.

Ectopic pituitary adenoma in persistent craniopharyngeal canal: case report and literature review.

An ectopic location of pituitary adenoma is rare. Nasopharyngeal location of ectopic pituitary adenoma has been attributed to remnants of the Rathke pouch. We describe an interesting case of ectopic pituitary adenoma in the setting of partially persistent craniopharyngeal canal. Embryological basis of ectopic pituitary adenoma and craniopharyngeal canal have been discussed.

White Matter Injury in Newborns With Congenital Heart Disease: A Diffusion Tensor Imaging Study

BACKGROUND Brain injury is observed on cranial magnetic resonance imaging preoperatively in up to 50% of newborns with congenital heart disease. Newer imaging techniques such as diffusion tensor imaging provide sensitive measures of the white matter integrity. The objective of this study was to evaluate the diffusion tensor imaging analysis technique of tract-based spatial statistics in newborns with congenital heart disease. METHODS Term newborns with congenital heart disease who would require surgery at less than 1 month of age were prospectively enrolled (n = 19). Infants underwent preoperative and postoperative brain magnetic resonance imaging with diffusion tensor imaging. Tract-based spatial statistics, an objective whole-brain diffusion tensor imaging analysis technique, was used to determine differences in white matter fractional anisotropy between infant groups. Term control infants were also compared with congenital heart disease infants. Postmenstrual age was equivalent between congenital heart disease infant groups and between congenital heart disease and control infants. RESULTS Ten infants had preoperative brain injury, either infarct or white matter injury, by conventional brain magnetic resonance imaging. The technique of tract-based spatial statistics showed significantly lower fractional anisotropy (P < 0.05, corrected) in multiple major white matter tracts in the infants with preoperative brain injury compared with infants without preoperative brain injury. Fractional anisotropy values increased in the white matter tracts from the preoperative to the postoperative brain magnetic resonance imaging correlating with brain maturation. Control infants had higher fractional anisotropy in multiple white matter tracts compared with infants with congenital heart disease. CONCLUSION Tract-based spatial statistics is a valuable diffusion tensor imaging analysis technique that may have better sensitivity in detecting white matter injury compared with conventional brain magnetic resonance imaging in term newborns with congenital heart disease.

Cavernous sinus syndrome from an internal carotid artery aneurysm in an infant with tuberous sclerosis.

Aneurysms are associated with tuberous sclerosis complex. We describe the first case of cavernous sinus syndrome from an intracavernous internal carotid artery aneurysm in a 9-month-old boy with tuberous sclerosis. The presence of an intracranial aneurysm should be considered in the differential diagnosis of children with tuberous sclerosis who develop cranial nerve deficits.

Erythropoietin and Brain Magnetic Resonance Imaging Findings in Hypoxic-Ischemic Encephalopathy: Volume of Acute Brain Injury and 1-Year Neurodevelopmental Outcome

&NA; In the Neonatal Erythropoietin and Therapeutic Hypothermia Outcomes study, 9/20 erythropoietin‐treated vs 12/24 placebo‐treated infants with hypoxic‐ischemic encephalopathy had acute brain injury. Among infants with acute brain injury, the injury volume was lower in the erythropoietin than the placebo group (P = .004). Higher injury volume correlated with lower 12‐month neurodevelopmental scores. Trial registration ClinicalTrials.gov: NCT01913340.

Predictors of poor outcome in patients with posterior reversible encephalopathy syndrome

Purpose: Posterior reversible encephalopathy syndrome (PRES) is an acute neurotoxic syndrome that, although characteristically reversible, can be fatal or result in long-term disability in a subset of patients. Our aim was to identify factors associated with poor discharge outcome in PRES patients. Materials and methods: We retrospectively reviewed the clinical and radiological records of all patients with PRES admitted at our tertiary care medical center from 2007 to 2014. They were divided based their modified Rankin Score at discharge and compared for their baseline variables, clinical, laboratory and imaging features. Poor outcome was defined by a modified Rankin scale 2–6 and was subdivided based on the primary mechanism that led to poor outcome. Results: Out of 100 PRES subjects, 36% had poor discharge outcomes. Factors associated with poor outcomes on univariate analysis were history of diabetes mellitus, coma, high Charlson comorbidity index, post-transplantation, autoimmune condition, lack of systolic or diastolic hypertension, elevated blood urea nitrogen and involvement of the corpus callosum. On multivariate analysis, only prior diabetes mellitus odd ratio (OR) = 6.8 (95% CI 1.1–42.1, p = 0.04), corpus callosum involvement (OR = 11.7; 95% CI 2.4–57.4, p = 0.00) were associated with poor outcome. Poor outcome also correlated with increased length of hospital stay (OR = 7.9; 95% CI 1.3–49.7, p = 0.03). Conclusion: Large prospective studies incorporating serial blood glucose values and advanced imaging studies are required to validate these findings.

Elevation of serum lactate dehydrogenase at posterior reversible encephalopathy syndrome onset in chemotherapy-treated cancer patients

The pathophysiology of posterior reversible encephalopathy syndrome (PRES) is incompletely understood; however, an underlying state of immune dysregulation and endothelial dysfunction has been proposed. We examined alterations of serum lactate dehydrogenase (LDH), a marker of endothelial dysfunction, relative to the development of PRES in patients receiving chemotherapy. A retrospective Institutional Review Board approved database of 88 PRES patients was examined. PRES diagnosis was confirmed by congruent clinical diagnosis and MRI. Clinical features at presentation were recorded. Serum LDH values were collected at three time points: prior to, at the time of, and following PRES diagnosis. Students t-test was employed. LDH values were available during the course of treatment in 12 patients (nine women; mean age 57.8 years [range 33-75 years]). Chemotherapy-associated PRES patients were more likely to be normotensive (25%) versus the non-chemotherapy group (9%). LDH levels at the time of PRES diagnosis were higher than those before and after (p=0.0263), with a mean difference of 114.8 international units/L. Mean time intervals between LDH measurement prior to and following PRES diagnosis were 44.8 days and 51.4 days, respectively. Mean elapsed time between last chemotherapy administration and PRES onset was 11.1days. In conclusion, serum LDH, a marker of endothelial dysfunction, shows statistically significant elevation at the onset of PRES toxicity in cancer patients receiving chemotherapy. Our findings support a systemic process characterized by endothelial injury/dysfunction as a factor, if not the prime event, in the pathophysiology of PRES.

CT findings in pediatric blunt intestinal injury

Trauma is the leading cause of morbidity and mortality in children. Computed tomography examinations play an important role in the management of patients with major trauma. Though abdominal trauma is less common compared to head injuries, the associated morbidity and mortality are substantial. It is easier to diagnose solid abdominal injuries than intestinal or mesenteric injuries on CT examinations. However, recognition of bowel injury is very important as a delay in diagnosis increases the morbidity and mortality. Hence, with every CT of the abdomen and pelvis, the radiologist must look for signs of bowel and mesenteric injury. This pictorial review presents various CT findings of blunt intestinal injury in children.

Progressive multifocal leukoencephalopathy mimicking glioma in a patient with idiopathic CD4 lymphocytopenia

Progressive multifocal leukoencephalopathy (PML) was described for the first time in 1958 by Astrom et al. as a demyelinating disease in patients with leukemia and lymphoma. A viral etiology for this condition was suggested as the oligodendrocytes contained inclusion bodies [1]. MRI features described in classical PML include hyperintense lesions on T2-weighted and FLAIR sequence which are asymmetric, devoid of contrast enhancement or mass effect, and relatively spare periventricular white matter [2]. We are reporting a case of PML in a patient with ICL (idiopathic CD4 lymphopenia) in which MRI brain showed punctate contrast enhancement, gyral swelling, and a pattern on MR spectroscopy concerning for a glioma.