Early occurrence of cerebral white matter abnormality detected in a neonate with salt-wasting congenital adrenal hyperplasia

Winfeld, Matthew; Patel, Payal R.; Shah, Bina; Nass, Ruth; Milla, Sarah Sarvis

doi:10.1515/jpem-2012-0154

Cited by 9 publications

(11 citation statements)

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“…Of note, several studies based on MRI have described brain white matter abnormalities in children with CAH, with the radiological changes that can be sometimes detected from the first days of life in children with classic CAH [49, 55]. In addition to the white matter changes, moderate atrophy in the right temporal cortex, small volume hippocampus, and agenesis or thinning of the corpus callosum were observed in the long term follow-up of children with classic CAH [56–58].…”

Section: Adrenal Insufficiency and The Paediatric Brainmentioning

confidence: 99%

“…In addition, hyponatremia, potentially leading to myelinolysis, has been suggested as a potential contributing factor to the impaired myelin formation in these patients [55, 56]. Some authors have also suggested that hormonal imbalance related to a deficiency in cortisol and aldosterone and an overproduction of 17-OH-progesterone and androgen may further cause a destabilisation of the myelin molecule leading to its degeneration [56].…”

Section: Adrenal Insufficiency and The Paediatric Brainmentioning

confidence: 99%

“…Clinically, these children may present with seizures, lethargy, postural and intentional tremor, tendon reflex asymmetry, or cerebellar symptoms [49, 55–58]. Standard MRI sequences performed in the first days of life in some newborns with classical CAH typically showed diffuse hyperintensity on T1-weighted sequences (Figure 2(a)), with reduced diffusion in the periventricular white matter on the diffusion-weighted imaging (DWI) sequences.…”

Section: Adrenal Insufficiency and The Paediatric Brainmentioning

confidence: 99%

“…Standard MRI sequences performed in the first days of life in some newborns with classical CAH typically showed diffuse hyperintensity on T1-weighted sequences (Figure 2(a)), with reduced diffusion in the periventricular white matter on the diffusion-weighted imaging (DWI) sequences. Follow-up radiological studies often showed complete reduction in the previously detected imaging abnormalities (Figure 2(b)), although long-lasting abnormalities and irreversible atrophic changes have also been documented in some patients [55]. …”

Section: Adrenal Insufficiency and The Paediatric Brainmentioning

confidence: 99%

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Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

Salpietro

Polizzi

Rosa

et al. 2014

International Journal of Endocrinology

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Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case-studies and case-series we focused on the pathophysiological and clinical implications of glucocorticoid-related, mineralcorticoid-related, and catecholamine-related paediatric nervous system involvement. Childhood Cushing syndrome can be associated with long-lasting cognitive deficits and abnormal behaviour, even after resolution of the hypercortisolism. Exposure to excessive replacement of exogenous glucocorticoids in the paediatric age group (e.g., during treatments for adrenal insufficiency) has been reported with neurological and magnetic resonance imaging (MRI) abnormalities (e.g., delayed myelination and brain atrophy) due to potential corticosteroid-related myelin damage in the developing brain and the possible impairment of limbic system ontogenesis. Idiopathic intracranial hypertension (IIH), a disorder of unclear pathophysiology characterised by increased cerebrospinal fluid (CSF) pressure, has been described in children with hypercortisolism, adrenal insufficiency, and hyperaldosteronism, reflecting the potential underlying involvement of the adrenal-brain axis in the regulation of CSF pressure homeostasis. Arterial hypertension caused by paediatric adenomas or tumours of the adrenal cortex or medulla has been associated with various hypertension-related neurological manifestations. The development and maturation of the central nervous system (CNS) through childhood is tightly regulated by intrinsic, paracrine, endocrine, and external modulators, and perturbations in any of these factors, including those related to adrenal hormone imbalance, could result in consequences that affect the structure and function of the paediatric brain. Animal experiments and clinical studies demonstrated that the developing (i.e., paediatric) CNS seems to be particularly vulnerable to alterations induced by adrenal disorders and/or supraphysiological doses of corticosteroids. Physicians should be aware of potential neurological manifestations in children with adrenal dysfunction to achieve better prevention and timely diagnosis and treatment of these disorders. Further studies are needed to explore the potential neurological, cognitive, and psychiatric long-term consequences of high doses of prolonged corticosteroid administration in childhood.

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Section: Adrenal Insufficiency and The Paediatric Brainmentioning

confidence: 99%

Section: Adrenal Insufficiency and The Paediatric Brainmentioning

confidence: 99%

Section: Adrenal Insufficiency and The Paediatric Brainmentioning

confidence: 99%

Section: Adrenal Insufficiency and The Paediatric Brainmentioning

confidence: 99%

See 2 more Smart Citations

Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

Salpietro

Polizzi

Rosa

et al. 2014

International Journal of Endocrinology

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“…However, the brain MRI findings in newborn infants with CAH have not been clarified except in one case report (8). …”

Section: Introductionmentioning

confidence: 99%

Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia

Kaga

Saito-Hakoda

Uematsu

et al. 2013

Clin Pediatr Endocrinol

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Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 11 after birth, he had a generalized tonic seizure. No evidence of serum electrolyte abnormalities was observed. Brain MRI revealed white matter abnormalities that consisted of bilateral small diffuse hyperintensities on T1-weighted images with slightly low intensity on T2-weighted images in the watershed area. Several factors associated with brain white matter abnormalities in adults with CAH, such as increasing age, hypertension, diabetes and corticosteroid replacement, were not applicable. Although the cause of the phenomenon in this case is unclear, brain white matter abnormality could be observed in newborn infants with CAH as well as in adult patients.

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Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development

Vilain

Lipson

Vashist

2016

J of Neuroscience Research

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Sex differences in brain development and postnatal behavior are determined largely by genetic sex and in utero gonadal hormone secretions. In humans however, determining the weight that each of these factors contributes remains a challenge because social influences should also be considered. Cases of disorders of sex development (DSD) provide unique insight into how mutations in genes responsible for gonadal formation can perturb the subsequent developmental hormonal milieu and elicit changes in normal human brain maturation. Specific forms of DSDs such as complete androgen insensitivity syndrome (CAIS), congenital adrenal hyperplasia (CAH), and 5α-reductase deficiency syndrome have variable effects between males and females, and the developmental outcomes of such conditions are largely dependent on sex chromosome composition. Medical and psychological works focused on CAH, CAIS, and 5α-reductase deficiency have helped form the foundation for understanding the roles of genetic and hormonal factors necessary for guiding human brain development. Here we highlight how the three aforementioned DSDs contribute to brain and behavioral phenotypes that can uniquely affect 46,XY and 46,XX individuals in dramatically different fashions. © 2016 Wiley Periodicals, Inc.

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Early occurrence of cerebral white matter abnormality detected in a neonate with salt-wasting congenital adrenal hyperplasia

Cited by 9 publications

References 0 publications

Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia

Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development

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