Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition often presenting with chronic respiratory infections in early life. Transmission electron microscopy (TEM) is used to detect ciliary ultrastructural defects. In this study, we aimed to assess ciliary ultrastructural defects using quantitative methods on TEM to identify its diagnostic role in confirming PCD. Nasal samples of 67 patients, including 37 females and 30 males (20.3 ± 10.7 years old), with suspected PCD symptoms were examined by TEM. The most common presentations were bronchiectasis: 26 (38.8%), chronic sinusitis: 23 (34.3%), and recurrent lower respiratory infections: 21 (31.3%). Secondary ciliary dyskinesia, including compound cilia (41.4%) and extra-tubules (44.3%), were the most prevalent TEM finding. Twelve patients (17.9%) had hallmark diagnostic criteria for PCD (class 1) consisting of 11 (16.4%) outer and inner dynein arm (ODA and IDA) defects and only one concurrent IDA defect and microtubular disorganization. Also, 11 patients (16.4%) had probable criteria for PCD (class 2), 26 (38.8%) had other defects, and 18 (26.9%) had normal ciliary ultrastructure. Among our suspected PCD patients, the most common ultrastructural ciliary defects were extra-tubules and compound cilia. However, the most prevalent hallmark diagnostic defect confirming PCD was simultaneous defects of IDA and ODA.
Introduction: Alveolar hypoventilation is defined as insufficient ventilation. The primary feature of this disorder is insufficient sleep-related ventilation. The differential diagnosis of pediatric hypoventilation includes congenital central hypoventilation syndrome (CCHS), ROHHAD syndrome, Chiari malformation, Prader-Willi syndrome (PWS), and neuromuscular disorders (e.g. congenital myopathy, brain trauma, and central nervous system tumors). Case Presentation: In this article, we report two cases of hypoventilation in the first decade of life with abnormal presentations (e.g., arterial and venous thrombosis). We also present a case of hypoventilation with an uncommon etiology and compare the therapeutic strategies for these patients.
Conclusions:The aim of this case report was to raise awareness of this unusual presentation of ROHHAD syndrome. Due to the low incidence of this syndrome, further studies are warranted to collect more information about its pathophysiology and symptoms. In addition, we noticed a rare etiology of hypoventilation (brain trauma).
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