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Background: Children with Chiari Malformation type II (CM-II) have an increased risk of sleep apnoea. The aim of the study was to describe the management of patients with CM-II in relation to sleep apnoea syndrome, clinical symptoms and magnetic resonance imaging (MRI) findings., Case Series Presentation: The paper reports 8 consecutive patients with CM-II followed between September 2013 and April 2017. The prevalence of sleep apnoea syndrome was high with 6 out of 8 patients having mild-to-severe sleep apnoea. Patients with severe sleep apnoea syndrome (3 patients) were treated with upper airway surgery and/or noninvasive ventilation., Conclusion: Our findings highlight the importance of respiratory polygraphy in the management of patients with CM-ΙΙ. Poly(somno)graphy is recommended in the follow-up care of children with CM-II.

Objectives: Children with Chiari malformation type I (CM-I) have an increased risk of sleep apnea. The aim of the study was to describe the management of CM-I patients in relation to symptoms, magnetic resonance imaging (MRI) findings and sleep apnea syndrome (SAS)., Methods: We performed a retrospective analysis of clinical charts of all 57 CM-I patients seen between September 2013 and April 2017., Results: A total of 45 patients had isolated CM-I or associated co-morbidity (CM-Iia), 5 had craniosynostosis (CM-Ics), and 7 a polymalformative syndrome (CM-Ipm). The prevalence of SAS, defined as an apnea-hypopnea index >1 event/h, was high in CM-I ranging from 50% to 80% according to the CM-I group. The prevalence of central sleep apnea (CSA) was low, with 5 (9%) patients having CSA and only 3 patients with CM-Iia having isolated CSA. A total of 17 patients (30%) had foramen magnum decompression (FMD). Neither positive symptoms of CM-I nor MRI findings alone, nor both combined were good indicators for FMD. No correlation was observed between the cerebellar tonsil descent and SAS in CM-I. But all 5 patients with CSA had a FMD. The combination of MRI findings and/or symptoms of CM-I together with moderate-to-severe SAS best discriminated patients who needed a FMD., Conclusion: Our findings highlight the importance of a combined evaluation of symptoms, MRI and polygraphy results in the management of CM-I patients., (© 2022 Wiley Periodicals LLC.)

Background: Diamond-Blackfan anemia is a rare inherited bone marrow failure disease. Typical findings include hypoplastic macrocytic anemia, congenital anomalies, and a predisposition to cancer. The molecular basis of the disease is heterozygous mutations of ribosomal proteins without a strict correlation between genotype and phenotype., Observation: We present 2 cases of Diamond-Blackfan anemia diagnosed during infancy with interesting clinical, molecular, and family characteristics., Conclusions: A thorough evaluation of all family members is imperative to identify possible 'silent carriers' who are those with no physical stigmata and minor or absent hematologic manifestations. New mutations could add in the map of the disease., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)