Cognitive and neuroradiological findings in congenital adrenal hyperplasia

Sinforiani, Elena; Livieri, C.; Mauri, M.; Bisio, P.; Sibilla, L.; Chiesa, L.; Martelli, A

doi:10.1016/0306-4530(94)90059-0

Cited by 69 publications

(52 citation statements)

References 11 publications

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“…MRI studies have demonstrated subclinical white matter abnormalities in adult patients with CAH [11][12][13]. The distribution of these abnormalities was variable: focal, diffuse and both focal and diffuse.…”

Section: Discussionmentioning

confidence: 96%

Clinical and MRI characteristics of acute encephalopathy in congenital adrenal hyperplasia

Lee¹,

Sanefuji²,

Watanabe³

et al. 2011

Journal of the Neurological Sciences

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Acute encephalopathy in childhood is frequently associated with common infections, especially in East Asia. Various types have been identified although many cases remain unclassified. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease presenting impairment of cortisol biosynthesis. We report three CAH children with acute infection-related encephalopathy. They exhibited disturbed consciousness or seizures, which did not improve after glucocorticoid administration, accompanied by clinical and laboratory findings of adrenal insufficiency. Brain MRI disclosed various patterns of white matter lesions, suggesting different types of acute encephalopathy such as clinically mild encephalitis/encephalopathy with a reversible splenial lesion or hemiconvulsion-hemiplegia syndrome. Acute encephalopathy should be considered and brain MRI immediately performed when impairment of consciousness does not improve after intravenous glucocorticoid administration in CAH patients. Further research is required to elucidate the epidemiology and pathogenic mechanisms of acute encephalopathy in CAH.

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Section: Discussionmentioning

confidence: 96%

Clinical and MRI characteristics of acute encephalopathy in congenital adrenal hyperplasia

Lee¹,

Sanefuji²,

Watanabe³

et al. 2011

Journal of the Neurological Sciences

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“…Most prior studies of intellectual functioning in CAH have not included measures of spatial ability, but instead focused on general intelligence or neuropsychological functions that exhibit little sexual dimorphism (e.g., Money & Lewis, 1966;Sinforiani, et al, 1994). Past attempts to assess spatial ability in CAH have been subject to a variety of methodological or sampling factors that might have reduced the potential to detect significant differences, including use of spatial tests that elicit only small or no sex differences or that are contaminated by other sources of variance, lack of appropriate control groups, small sample sizes, sampling variations in IQ that might have obscured differences in spatial ability, and progress over time in the treatment and medical management of CAH Helleday et al, 1994;McGuire et al, 1975;Perlman, Downloaded by [McMaster University] at 06:05 08 December 2014 1973).…”

Section: Discussionmentioning

confidence: 99%

Spatial reasoning in children with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

Hampson¹,

Rovet

Altmann

1998

Developmental Neuropsychology

156

103

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“…12,58,[70][71][72][73][74][75][76][77] These studies studies focused on the presence of ventricular dilatation (present in 1 out of 19 to 6 out of 7 patients), general atrophy (present in 3 out of 19 to 22 out of 37 patients) and frontal hyperostosis (10 out of 37 to 14 out of 16 patients). Two uncontrolled ultrasound studies examined 24 newborn congenital DM1 patients and found ventricular dilatation and macrocephaly in the majority of patients (11 out of 14 and 8 out of 10, respectively).…”

Section: Structural Imaging Studiesmentioning

confidence: 99%

Brain imaging in myotonic dystrophy type 1

Okkersen

Monckton

et al. 2017

Neurology

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Objective:To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1).Methods:We searched Embase (index period 1974–2016) and MEDLINE (index period 1946–2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible.Results:In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64–77), compared with 6% (95% CI 3–12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce.Conclusions:DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.

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Cognitive and neuroradiological findings in congenital adrenal hyperplasia

Cited by 69 publications

References 11 publications

Clinical and MRI characteristics of acute encephalopathy in congenital adrenal hyperplasia

Clinical and MRI characteristics of acute encephalopathy in congenital adrenal hyperplasia

Spatial reasoning in children with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

Brain imaging in myotonic dystrophy type 1

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