Abstract
The manual “Monogenic Strokes in Children” represents a large-scale, conceptually coherent, and highly relevant scientific and practical work devoted to the complex problem of hereditary cerebrovascular pathology in childhood. The publication comprises 612 pages and provides a comprehensive analysis of modern concepts regarding the etiology, pathogenesis, clinical manifestations, diagnosis, and treatment of pediatric stroke, with particular emphasis on monogenic forms. The work is distinguished by a high scientific standard, a well-structured organization, and a logical presentation of the material. The book is the result of the systematic work of an experienced team of authors who successfully integrate clinical expertise, contemporary genetic knowledge, and the principles of evidence-based medicine.
The first section, “Characteristics of Strokes in Children,” consistently outlines the modern understanding of pediatric stroke—from definitions to the main clinical variants of the disease. The authors convincingly demonstrate that stroke in children represents a distinct nosological entity with its own pathophysiological mechanisms and clinical features. The clarity of presentation, logical structure, and careful attention to detail provide a solid foundation for further exploration of the topic.
This section establishes the theoretical framework of the monograph. In the “Definition of Stroke” subsection, the authors clearly shape the modern concept of stroke in childhood, emphasizing its differences from stroke in adults in terms of etiology and clinical presentation. The effective integration of international classifications with practical clinical aspects makes the material both systematic and applicable. The “Types of Strokes in Children” subsection provides a structured overview of major cerebrovascular disorders. Particular attention is given to “Arterial Ischemic Stroke in Children,” where pathogenetic mechanisms, risk factors, clinical syndromes, and potential outcomes are described in detail. The discussion demonstrates a deep understanding of neurovascular physiology and the specific characteristics of the pediatric organism.
The “Hemorrhagic Stroke” subsection complements this overview by describing the causes of intracranial hemorrhage, including vascular malformations and coagulopathies. Meanwhile, “Cerebral Venous Thrombosis” highlights the diagnostic challenges and variability in clinical manifestations, issues particularly important for practicing physicians. Overall, the first section provides an essential conceptual foundation without which a comprehensive understanding of genetically determined stroke would be impossible.
The second section, “Monogenic Diseases Associated with Strokes,” is central and conceptually defining for the entire monograph. Here, the authors demonstrate the depth of genetic analysis and a strong interdisciplinary approach. In the “Hereditary Connective Tissue Diseases Associated with Strokes” subsection, the hereditary collagenopathies and hereditary pathology of elastin fibers are examined in detail. The tables presented in this section summarize collagen genes, their expression patterns, and hereditary diseases associated with them. Mutations affecting connective tissue and vascular integrity that may increase stroke risk are clearly described. The material is presented from the perspectives of molecular biology, pathomorphology, and clinical medicine, allowing the reader to trace the path from genetic mutation to vascular catastrophe.
The “Monogenic Diseases of Small Cerebral Vessels” subsection is particularly informative. It discusses such complex disorders as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), adenosine deaminase 2 deficiency, Fabry disease, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Each disorder is described with consideration of its genetic mechanisms, inheritance patterns, clinical phenotypes, neuroimaging characteristics, and modern therapeutic approaches.
The “Monogenic Diseases of Large Cerebral Vessels” subsection covers a broad spectrum of conditions—from Moyamoya disease and sickle cell anemia to rare syndromes, such as Aicardi–Goutières syndrome and Menkes disease. The depth and systematic nature of the presentation create a comprehensive picture of hereditary vasculopathies as complex and multifaceted disorders. Thus, the second section can justifiably be regarded as a concise encyclopedic overview of monogenic cerebrovascular diseases in childhood.
The third section of the manual, “Principles of Diagnosis and Treatment of Strokes in Children,” is particularly practical. In the “Diagnosis of Strokes in Children” subsection, the authors systematize diagnostic algorithms, paying attention to both neuroimaging and laboratory methods, including the subsection “Laboratory Examinations.” This part of the book is devoted to the diagnosis of specific stroke types, facilitating the practical use of the material in clinical settings. It also discusses modern therapeutic strategies ranging from emergency care to secondary prevention. Clear wording and strong emphasis on evidence-based medicine significantly enhance the practical relevance of the publication. The manual promotes a deeper understanding of the problem and stimulates both clinical thinking and further scientific research.
Particular attention should be paid to the publication’s structural organization, with emphasis on the numbering system. The monograph’s subsections are considerably fragmented, as reflected in the multi-level numbering structure (e.g., 1.2.3.3., 2.1.1.3.2.9., 2.3.4.2.5., etc.). On the one hand, such detailed structuring reflects the authors’ intention to systematize the material as precisely as possible and to clearly differentiate between various nosological forms. This approach facilitates thematic navigation and makes the book convenient for use as a reference source. On the other hand, excessive fragmentation of subsections can create the impression of structural overload. A large number of small subsections covering closely related material may sometimes complicate the holistic perception of chapters and distract the reader from the overall conceptual line of presentation. It might therefore be advisable to combine some related topics into broader thematic blocks with internal subheadings rather than separate numerical levels. Nevertheless, this detailed numbering simultaneously emphasizes the work’s encyclopedic nature and its aspiration to the maximum systematization of complex material.
The manual is distinguished by the depth of its analysis, systematic organization, and high scientific standard. The book is richly illustrated with drawings, tables, diagrams, radiographs, computed tomography images, and clinical photographs, which significantly enhance the comprehension of the material. The publication contains more than 200 illustrations and images that not only complement the text but also facilitate understanding of complex pathophysiological processes and diagnostic features. Owing to the well-balanced combination of textual and visual material, the book is engaging, logically structured, and relatively easy to read despite the high academic level of the content. References to modern scientific publications accompany each subsection. At the end of the manual, 30 test questions and practical tasks for self-assessment are provided to evaluate the reader’s understanding and consolidate the acquired knowledge.
The authors successfully integrate fundamental genetics, clinical neurology, and pediatrics into a unified conceptual framework. Their goal is not only to systematize knowledge but also to assist physicians in real clinical situations by providing clear, practical, and professionally oriented guidance.
Genetic disorders, particularly collagenopathies, play an important role in the development of stroke in children, as they can lead to structural weakness of the vascular wall. Identification of pathogenic mutations allows clinicians to determine the cause of a cerebrovascular event, assess the risk of recurrent stroke, and provide appropriate medical and genetic counseling for the family. Early genetic diagnosis contributes to individualized patient monitoring and preventive strategies.
The work has not only educational but also strategic importance for the development of pediatric neurology in Ukraine. It contributes to a new level of understanding of monogenic strokes, promotes early diagnosis, and supports a personalized approach to treatment. The book can be recommended to pediatric neurologists, geneticists, pediatricians, intensive care specialists, neurosurgeons, and researchers as a comprehensive modern guide to the problem of monogenic strokes in children.
In the current circumstances, when the aggressor state, Russia, continues to destroy Ukrainian cities, medical universities, libraries, and museums, the preservation and dissemination of professional knowledge acquire particular importance. The creation of this manual represents a meaningful contribution to supporting medical education and scientific development, which the aggressor attempts to undermine alongside national infrastructure. Thus, this publication is not only an educational resource but also a symbol of the resilience of Ukrainian medicine and the academic community. The dissemination of knowledge during wartime becomes a form of resistance and a step toward preserving life and Ukraine’s future.
The manual is available at: https://repo.dma.dp.ua/9704/