Clinical case analysis reveals comorbidities in central nervous system malformations, suggesting treatment improvements. Comprehensive therapy enhances patient care and outcomes.
Congenital malformations of the central nervous system (CNS CMs) represent a significant medical and social issue. These anomalies are characterized by a high variability of clinical manifestations and are often accompanied by comorbid pathologies such as congestive pneumonias, protein-energy malnutrition (PEM), and anemia. Despite the rarity of these diseases, studying their clinical features and developing effective treatment methods remain urgent tasks. This is due to the need to improve the quality of life for patients and to facilitate care methods for their caregivers. Objective – to describe the treatment experience of a comorbid patient with CNS CMs, analyze clinical manifestations and comorbid pathologies, and develop recommendations for comprehensive therapy and rehabilitation. The article presents a clinical case of a patient with hydranencephaly, accompanied by severe congestive pneumonias and PEM. The following methods were used in the study: collection of anamnesis and complaints, thorough analysis of the patient’s medical history and current symptoms, clinical examination, laboratory tests, instrumental studies, and specialist consultations. The patient with hydranencephaly demonstrated the following clinical manifestations: 1) neurological symptoms (pronounced hypodynamia, spastic scoliosis, swallowing and protective reflex disorders); 2) respiratory complications (frequent congestive pneumonias requiring prolonged treatment and hospitalization); 3) PEM: weight loss, nutritional disorders; 4) immunological disorders (decreased levels of CD4 and CD8 T-cells, impaired T-helper to T-suppressor ratios). The comprehensive treatment included: 1) antibiotic therapy for the treatment of infectious complications; 2) rehabilitation measures (physiotherapy, breathing exercises); 3) nutritional correction (special diets and additional nutrition); 4) immunocorrection (immune system support using immunomodulators). The importance of an interdisciplinary approach, the need for joint examinations and specialist consultations to develop an effective treatment strategy, rehabilitation and support for children with such pathologies, complication prevention. There should be a serious approach to family planning, preparation for pregnancy and childbirth, and maternal health protection. Thus, a comprehensive approach to treating patients with CNS CMs allows for an improved prognosis and enhanced quality of life despite the severity of the underlying disease.
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Lagunova et al. (2025) studied this question.
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