We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.
Objective: To assess the demographics and clinical characteristics of children presenting with acute neurologic symptoms concerning for stroke. Background: Stroke leads to significant morbidity in the pediatric population. Stroke protocols were created as a means to help identify and triage these children. Despite implementation of these protocols, there have been few population-based studies evaluating the demographics and clinical features of children presenting with acute strokelike symptoms. Methods: A retrospective chart review of patients for whom the stroke alert process was activated from September 2016 through August 2018 at Children's Mercy Hospital. Results: There were a total of 61 activations. Acute ischemic stroke or transient ischemic attack comprised 18% and was the second leading diagnoses after seizure with postictal (Todd) paralysis (20%). Two activations were candidates for mechanical thrombectomy, and none received tissue plasminogen activator (tPA). Children with acute ischemic stroke / transient ischemic attack were likely to be younger in age (median 4 years, interquartile range [IQR] 3-9) compared to those with nonischemic stroke diagnoses (median 12.5 years, IQR 7-15.3) ( P = .010). The anatomical location of acute ischemic stroke was widespread, including both anterior and posterior circulations. Past medical history, family history, racial demographics, sex, and initial presenting symptoms were not predictive of the diagnosis of acute ischemic stroke / transient ischemic attack. 38% of activations with diagnoses other than transient ischemic attack / acute ischemic stroke required urgent treatment, with 16% requiring intensive care unit admission. Conclusion: Acute ischemic stroke / transient ischemic attack comprised nearly one-fifth of all pediatric stroke activations, highlighting the importance of developing protocols for early recognition and evaluation of children who present with symptoms concerning for stroke.
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