A Rare Case of Hereditary Sensory and Autonomic Neuropathy Type 4 in a 3-Year-Old: Clinical and Genetic Findings Üç Yaşındaki Bir Çocukta Nadir Görülen Herediter Sensörial ve Otonom Nöropati Tip 4 Vakası: Klinik ve Genetik Bulgular

YÜCEL ŞEN A. D., KOLSUZ H. Ö., ÇİLİNGİR O., ÇARMAN K. B., YARAR C.

Turkiye Klinikleri Pediatri, cilt.34, sa.2, ss.72-76, 2025 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 2
  • Basım Tarihi: 2025
  • Doi Numarası: 10.5336/pediatr.2025-110707
  • Dergi Adı: Turkiye Klinikleri Pediatri
  • Derginin Tarandığı İndeksler: Scopus, Academic Search Premier, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.72-76
  • Anahtar Kelimeler: child, congenital insensitivity to pain with anhidrosis, Hereditary sensory and autonomic neuropathy
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Hereditary sensory and autonomic neuropathy (HSAN) is a diverse collection of illnesses that impact sensory and autonomic neurons. HSAN Type 4 (HSAN-4), or congenital insensitivity to pain with anhidrosis (CIPA), is an uncommon autosomal recessive disorder marked by the lack of pain perception, self-injurious behaviour, and anhidrosis, resulting in repeated febrile episodes. Here, we report a case of a 3-year-old Afghan-born male with chronic non-healing wounds and recurrent febrile episodes due to anhidrosis. Genetic testing confirmed a homozygous mutation in the neurotrophic tyrosine kinase receptor-1 gene, supporting the diagnosis of HSAN-4. This case underscores the importance of early genetic diagnosis, highlights key clinical and therapeutic challenges in managing HSAN-4, and emphasizes the need for multidisciplinary approaches to improve patient outcomes.