Akademik Veri Yönetim Sistemi
Türkiye Klinikleri Pediatri Dergisi, ss.37-41, 2024 (Hakemli Dergi)
Hereditary neuropathies are a heterogeneous group of diseases. The etiologies of childhood
peripheral neuropathies are different from those in adults, and hereditary diseases, especially autosomal
recessive conditions, are common. In most patients, diagnostic studies are limited to clinical evaluation.
Although Charcot-Marie-Tooth disease is the most common neuromuscular disease, neuropathies accompanying hereditary metabolic diseases, neurodegenerative and other complex neurological diseases
also common in childhood neuropathies. Recognizing these also helps in the diagnosis and treatment of
the underlying disease. Some clinical clues may aid the diagnostic process. In addition to typical findings such as weakness, muscle atrophy, gait disorders, foot deformities, areflexia, findings such as respiratory failure, upper extremity involvement, visual or hearing impairment, pyramidal symptoms and
mental retardation may be observed. While advances in genetics have made it easier for patients to be
diagnosed, they have also led to increased heterogeneity and difficulties in the use of classifications.
Typical mutations expected in childhood-onset neuropathies are less common, and neuropathies often
presents as findings of multisystemic diseases. In these patients, it is necessary to insist on further investigations to determine the etiology.