Differences in Activation and Deactivation in Children with Sickle Cell Disease Compared with Demographically Matched Controls.

BACKGROUND AND PURPOSE: Declines in both functional activation and functional connectivity have been reported in patients with sickle cell disease. In this study, we derived the functional and default mode responses to a word stem paradigm in age-, ethnicity-, and background-matched subjects with sickle cell disease and control groups, with the aim of testing whether both networks were similarly attenuated and whether the changes were related to physiologic parameters that characterize sickle cell disease. MATERIALS AND METHODS: Both the functional and default mode responses were obtained from age- and background-matched controls and the sickle cell population by using a visually presented word stem paradigm on a 3T scanner. RESULTS: We observed an attenuated response to both activation and deactivation in the sickle cell disease group. There were no significant differences in the activation response between the 2 groups for the contrast control > sickle cell disease; however, significant differences were observed in the medial parietal cortex, the auditory cortex, and the angular gyrus for the default mode. For the sickle cell group, a significant correlation between the activation z scores and the physiologic parameters was observed; for the deactivation, the results were not significant but the trend was similar. CONCLUSIONS: The results indicate that the physiologic parameters modulate the activation in the expected fashion, but that the effect was weaker for deactivation. Given that significant differences between the 2 groups were only seen for deactivation, additional factors must modulate the deactivation in sickle cell disease.

Strokes, cutis marmorata telangiectatica congenita, and factor V Leiden.

Cutis marmorata telangiectatica congenita is an uncommon, congenital cutaneous condition typified by persistent cutis marmorata and other associated abnormalities. Progressive neurologic complications are generally not a feature of the disorder. A case is reported of cutis marmorata telangiectatica congenita associated with diffuse cerebrovascular infarcts at 7 months of age. Moyamoya-like vascular abnormalities were demonstrated in addition to the factor V Leiden mutation, a congenital hypercoagulable disorder. This novel case illustrates the importance of evaluating children with strokes for congenital thrombophilic disorders.

Low-dose nonenhanced head CT protocol for follow-up evaluation of children with ventriculoperitoneal shunt: reduction of radiation and effect on image quality.

BACKGROUND AND PURPOSE: Children with a shunt for hydrocephalus often undergo multiple follow-up head CT scans, increasing the risk for long-term effects of ionizing radiation. The purpose of our study was to evaluate if an unenhanced low-dose head CT could consistently provide acceptable image quality and diagnostic information. MATERIALS AND METHODS: Ninety-two children (mean age, 9 years; range, 8 months to 21 years; 45 boys and 47 girls) with a shunt for hydrocephalus and no clinical evidence of shunt malfunction who were referred for a follow-up nonenhanced head CT were included in the study. All studies were performed on a 4-section multidetector CT. Two CT studies were selected retrospectively for each patient, 1 performed at standard dose (220 mA) and 1 at low dose (80 mAs). Two radiologists independently evaluated and graded both standard-dose and low-dose studies for various image quality parameters. Attenuation and noise levels were measured, and gray-white differentiation and contrast-to-noise ratio (CNR) were calculated. RESULTS: Low-dose CT resulted in 63% mean dose reduction. All low-dose CT scans were diagnostically acceptable. Image quality parameters were significantly lower at low dose (P = .0001) except for the parameters for streak artifacts (P = .46) and need for further imaging (P = .47), which were higher. Mean noise levels were significantly higher (P = .001) in low-dose studies, whereas CNR was significantly higher in standard dose CT (P = .001). A moderate to perfect agreement was noted between the 2 readers with regard to image quality assessment (65%-99%). CONCLUSION: Low-dose nonenhanced head CT consistently provides diagnostically acceptable images with relevant diagnostic information in children with VP shunts resulting in substantial dose savings.

Branchio-oto-renal dysplasia associated with tetralogy of Fallot.

Branchio-oto-renal dysplasia in its full expression consists of external ear malformations, cervical fistulas or cysts, preauricular pits, hearing loss of conductive sensorineural or mixed type, and renal anomalies. The syndrome is inherited in an autosomal dominant mode. We present a sporadic case of BOR dysplasia associated with tetralogy of Fallot in a 30-month-old girl. The clinical aspects of the disease are discussed briefly.

Central nervous system relapse following bone marrow transplantation in stage IV neuroblastoma.

Neuroblastoma is the most common extracranial solid tumor in pediatrics. The disease-free survival rate for patients with stage IV neuroblastoma has improved over the past 10 years secondary to more aggressive induction chemotherapy regimens combined with autologous bone marrow transplantation. The usual sites of recurrence include the site of primary tumor, residual gross disease, bone, and bone narrow. The central nervous system, a rare site of relapse, is being involved with increasing frequency. The authors report two cases of patients with treated stage IV neuroblastoma who had relapses isolated to the CNS.

Central nervous system relapse of treated stage IV neuroblastoma.

Neuroblastoma is the most common extracranial solid tumor in pediatrics. The long-term survival of patients with advanced-stage neuroblastoma has remarkably improved secondary to aggressive treatment protocols including autologous bone marrow transplant (BMT). As a result, a different natural history of this disease is being reported with unusual, late manifestations. The central nervous system (CNS), once a rare site of disease, is being involved with increasing frequency. Appropriate neuroimaging in these patients is important. Two cases of patients with treated stage IV neuroblastoma who developed isolated CNS metastases are presented. The proposed pathogenesis and neuroradiologic manifestations of this complication are reviewed.