Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy

Abe, Yuichi; Sakai, Tetsuro; Okumura, Akihisa; Akaboshi, Shinjiro; Fukuda, Mitsumasa; Haginoya, Kazuhiro; Hamano, Shin ichiro; Hirano, Kouichi; Kikuchi, Kenjiro; Kubota, Masaya; Lee, Soo Young; Maegaki, Yoshihiro; Sanefuji, Masafumi; Shimozato, Sachiko; Suzuki, Michitaka; Suzuki, Yasuhiro; Takahashi, Mitsugi; Watanabe, Kenji; Mizuguchi, Masashi; Yamanouchi, Hideo

doi:10.1016/j.braindev.2016.01.007

Cited by 18 publications

(16 citation statements)

References 26 publications

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“…More recently, a retrospective review of case reports in Japan surveyed 1061 child neurology patients who presented with CAH-associated encephalopathy (CAHE). 38 Twenty-five patients with suspected CAHE were identified, and clinical data for 15 patients with CAHE, ranging from 1 to 9 years of age, with an average CAHE onset of 3.3 years of age, were provided for further review. Eight completed MRI scanning with heterogeneous findings.…”

Section: Resultsmentioning

confidence: 99%

“…Specifically, it was a retroactive study that relied on requested data from clinicians; several clinicians did not respond, and others failed to provide sufficient demographic information. 38 Similarly, across the case reports, a consistent limitation was the lack of clear demographic descriptions of the patients (i.e., not reporting race, ethnicity, and socioeconomic status).…”

Section: Risk Of Bias Assessmentmentioning

confidence: 99%

“…All case series studies failed to provide site/clinic demographic information. Additionally, the case series conducted by Abe et al 38 failed to meet several criteria because of lack of cooperability. Specifically, it was a retroactive study that relied on requested data from clinicians; several clinicians did not respond, and others failed to provide sufficient demographic information.…”

Section: Risk Of Bias Assessmentmentioning

confidence: 99%

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Congenital Adrenal Hyperplasia and Brain Health: A Systematic Review of Structural, Functional, and Diffusion Magnetic Resonance Imaging (MRI) Investigations

et al. 2022

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Background Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affects the adrenal glands and is the most common cause of primary adrenal insufficiency in children. In the past few decades, magnetic resonance imaging (MRI) has been implemented to investigate how the brain may be affected by CAH. A systematic review was conducted to evaluate and synthesize the reported evidence of brain findings related to CAH using structural, functional, and diffusion-weighted MRI. Methods We searched bibliographical databases through July 2021 for brain MRI studies in individuals with CAH. Results Twenty-eight studies were identified, including 13 case reports or series, 10 studies that recruited and studied CAH patients vs unaffected controls, and 5 studies without a matched control group. Eleven studies used structural MRI to identify structural abnormalities or quantify brain volumes, whereas 3 studies implemented functional MRI to investigate brain activity, and 3 reported diffusion MRI findings to assess white matter microstructure. Some commonly reported findings across studies included cortical atrophy and differences in gray matter volumes, as well as white matter hyperintensities, altered white matter microstructure, and distinct patterns of emotion and reward-related brain activity. Conclusions These findings suggest differences in brain structure and function in patients with CAH. Limitations of these studies highlight the need for CAH neuroimaging studies to incorporate larger sample sizes and follow best study design and MRI analytic practices, as well as clarify potential neurologic effects seen across the lifespan and in relation to clinical and behavioral CAH phenotypes.

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Section: Resultsmentioning

confidence: 99%

Section: Risk Of Bias Assessmentmentioning

confidence: 99%

Section: Risk Of Bias Assessmentmentioning

confidence: 99%

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Congenital Adrenal Hyperplasia and Brain Health: A Systematic Review of Structural, Functional, and Diffusion Magnetic Resonance Imaging (MRI) Investigations

et al. 2022

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“…Comments: Some patients with congenital adrenal hyperplasia develop AE in infancy and childhood characterized by acute CNS dysfunctions associated with features of acute adrenal insufficiency. Neurological sequelae of various degrees are encountered in spite of quick and appropriate managements [167,168] Clinical features (diagnostic criteria) include the following: The same dose of hydrocortisone should be given for over 24 h. 2) Bolus administration of 5% glucose with 0.9% saline, 20 mL/kg for 1 h. When hypoglycemia persists even after this treatment, administer a bolus injection of glucose 0.5-1 g/kg (10% glucose 5-10 mL/ kg). The initial bolus administration of saline may be repeated up to 60 mL/kg until the disappearance of hypovolemia.…”

Section: (Cq7-2) Diagnosis and Treatment Of Ae Associated With Congenmentioning

confidence: 99%

Guidelines for the diagnosis and treatment of acute encephalopathy in childhood

Mizuguchi

Ichiyama

Imataka

et al. 2021

Brain and Development

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137

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The cardinal symptom of acute encephalopathy is impairment of consciousness of acute onset during the course of an infectious disease, with duration and severity meeting defined criteria. Acute encephalopathy consists of multiple syndromes such as acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late reduced diffusion and clinically mild encephalitis/ encephalopathy with reversible splenial lesion. Among these syndromes, there are both similarities and differences. In 2016, the Japanese Society of Child Neurology published 'Guidelines for the Diagnosis and Treatment of Acute Encephalopathy in Childhood', which made recommendations and comments on the general aspects of acute encephalopathy in the first half, and on individual syndromes in the latter half. Since the guidelines were written in Japanese, this review article describes extracts from the recommendations and comments in English, in order to introduce the essence of the guidelines to international clinicians and researchers.

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“…Aldosterone deficiency exacerbates adrenal crisis through sodium and water loss and potassium retention, and adrenomedullary dysfunction (adrenaline deficiency) contributes to the risk of cardiovascular instability and hypoglycaemia 58 , 68 . Life-threatening hypoglycaemia can be associated with seizures and can rarely result in permanent neurological sequelae in children with adrenal crises 58 , 69 , 70 . Having low blood levels of adrenaline in CAH is a risk factor for needing emergency care in children and is associated with increased illnesses in infants and adults 58 , 68 .…”

Section: Management Challengesmentioning

confidence: 99%

Management challenges and therapeutic advances in congenital adrenal hyperplasia

Mallappa

Merke

2022

Nat Rev Endocrinol

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Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s following the discovery of the structure and function of adrenocortical hormones. Although major advances in molecular biology have delineated steroidogenic mechanisms and the genetics of CAH, management and treatment of this condition continue to present challenges. Management is complicated by a combination of comorbidities that arise from disease-related hormonal derangements and treatment-related adverse effects. The clinical outcomes of CAH can include life-threatening adrenal crises, altered growth and early puberty, and adverse effects on metabolic, cardiovascular, bone and reproductive health. Standard-of-care glucocorticoid formulations fall short of replicating the circadian rhythm of cortisol and controlling efficient adrenocorticotrophic hormone-driven adrenal androgen production. Adrenal-derived 11-oxygenated androgens have emerged as potential new biomarkers for CAH, as traditional biomarkers are subject to variability and are not adrenal-specific, contributing to management challenges. Multiple alternative treatment approaches are being developed with the aim of tailoring therapy for improved patient outcomes. This Review focuses on challenges and advances in the management and treatment of CAH due to 21-hydroxylase deficiency, the most common type of CAH. Furthermore, we examine new therapeutic developments, including treatments designed to replace cortisol in a physiological manner and adjunct agents intended to control excess androgens and thereby enable reductions in glucocorticoid doses.

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Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy

Cited by 18 publications

References 26 publications

Congenital Adrenal Hyperplasia and Brain Health: A Systematic Review of Structural, Functional, and Diffusion Magnetic Resonance Imaging (MRI) Investigations

Congenital Adrenal Hyperplasia and Brain Health: A Systematic Review of Structural, Functional, and Diffusion Magnetic Resonance Imaging (MRI) Investigations

Guidelines for the diagnosis and treatment of acute encephalopathy in childhood

Management challenges and therapeutic advances in congenital adrenal hyperplasia

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