Current Overview of CDKL-5 Deficiency Disorder Treatment.

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine-threonine kinase involved in neural maturation and synaptogenesis [...].

Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a genetically determined disorder with a variable phenotype. Since the original description of AGS, advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes, and new clinical pictures have emerged beyond the classic presentation. The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies. DATA SOURCES: Literature reviews and original research articles were collected from databases, including PubMed and ClinicalTrials.gov. Relevant articles about AGS were included. RESULTS: The involvement of the nervous system certainly represents the major cause of mortality and morbidity in AGS patients. However, other clinical manifestations, such as chilblains, hepatosplenomegaly, and hematological disturbances, may lead to the diagnosis and considerably impact the prognosis and overall quality of life of these patients. Therapeutic approaches of AGS are limited to interventions aimed at specific symptoms and the management of multiple comorbidities. However, advances in understanding the pathogenesis of AGS could open new and more effective therapies. CONCLUSIONS: The over-activation of innate immunity due to upregulated interferon production plays a critical role in AGS, leading to multi-organ damage with the main involvement of the central nervous system. To date, there is no specific and effective treatment for AGS. New drugs specifically targeting the interferon pathway may bring new hope to AGS patients.

Imaging Findings in Neonatal and Pediatric Posterior Reversible Encephalopathy Syndrome (PRES) Differ From Adults.

BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is classically a reversible clinical radiographic syndrome associated with predominantly posterior leukoencephalopathy on neuroimaging. Magnetic resonance imaging (MRI) in adults demonstrates almost universally reversible parietal-occipital disease. We aimed to demonstrate in a cohort of children that "atypical" distribution is expected, acutely and on follow-up. METHODS: A retrospective review of children diagnosed with PRES from 2010 to 2018 at our children's hospital was performed. All had MRI at diagnoses, with over half having follow-up MRIs. Images were reviewed by a neuroradiology-trained pediatric radiologist for confirmation of findings consistent with PRES/identification of involved regions. RESULTS: Nineteen patients (aged zero to 18 years, 53% female) were included. Notably, two were infants. Nearly all had seizures; all had altered mental status and hypertension. Fifteen (84%) had MRI described as "atypical." Distribution of MRI findings was anatomically widespread, including nine with frontal findings. Twelve (63%) had follow-up imaging, of which approximately half remained abnormal. CONCLUSIONS: Pediatric PRES MRI findings were more often atypical at time of diagnosis. Vasogenic edema related to the acute phases of PRES typically resolved; however, follow-up imaging identified new volume loss in the areas affected. Two of our subjects were younger than 13 months, younger than typically described. Our series demonstrates that imaging distribution in children with PRES does not mirror the classical posterior, reversible distribution described in adults and continues the recent trend of identifying PRES in infants.

Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury.

AIM: To assess the prognostic capabilities of various diagnostic modalities for childhood brachial plexus injuries (BPIs) and brachial plexus birth injury (BPBI) and postneonatal BPI. METHOD: In this single-center retrospective cross-sectional study, we examined children with BPIs diagnosed or confirmed by electrodiagnostic studies between 2013 and 2020, and compared the prognostic value of various components of the electrophysiologic findings, magnetic resonance imaging (MRI) data, and the Active Movement Scale (AMS). We developed scoring systems for electrodiagnostic studies and MRI findings, including various components of nerve conduction studies and electromyography (EMG) for electrodiagnostic studies. RESULTS: We identified 21 children (10 females and 11 males) aged 8 days to 21 years (mean 8y 6.95mo) who had a total of 30 electrodiagnostic studies, 14 brachial plexus MRI studies, and 10 surgical procedures. Among the diagnostic modalities assessed, brachial plexus MRI scores, EMG denervation scores, and mean total EMG scores were the most valuable in predicting surgical versus non-surgical outcomes. Correspondingly, a combined MRI/mean total EMG score provided prognostic value. INTERPRETATION: Brachial plexus MRI scores and specific electrodiagnostic scores provide the most accurate prognostic information for children with BPI. Our grading scales can assist a multidisciplinary team in quantifying results of these studies and determining prognosis in this setting. WHAT THIS PAPER ADDS: A new scoring system to quantify results of electrodiagnostic and magnetic resonance imaging (MRI) studies is presented. Severity of denervation has good prognostic value for childhood brachial plexus injuries (BPIs). Composite electromyography scores have good prognostic value for childhood BPIs. Brachial plexus MRI has good prognostic value for childhood BPIs.

Hereditary hemorrhagic telangiectasia presenting as a recurrent epistaxis in an adolescent: A case report.

BACKGROUND: Epistaxis can be an isolated finding or a manifestation of a systemic disease. Some of the potential etiologies are usage of anticoagulants, bleeding disorders, vascular aneurysms, nasal neoplasm, hypertension and nasal steroids. Hereditary hemorrhagic telangiectasia (HHT) as a cause of recurrent epistaxis is uncommon. CASE SUMMARY: In this report, we describe an 18-year-old adolescent with recurrent epistaxis, mucocutaneous telangiectasia and family history of HHT, consistent with HHT. CONCLUSION: Timely diagnosis is needed not only to treat the epistaxis but also to be vigilant for other serious manifestations of this condition.