Evaluation of hair structural abnormalities in children with neurological diseases

Hair microscopy is a fast and simple diagnostic method in many diseases affecting hair in daily practice. Hair shaft disorders are morphological pathologies resulting from congenital or acquired diseases of the hair. There are many diseases that can present with hair shaft disorders in pediatric neurology practice. In the diagnosis of these diseases, detection of hair shaft disorders by microscopy makes an important contribution. Pediatric patients with hair findings were included in our study. Microscopic evaluation of the hair was performed under light microscopy. Pathological hair shaft findings were recorded. The clinical findings, hair findings, laboratory tests and final diagnosis of the patients were evaluated. In our study, 16 patients with rare hair findings were identified. Of these 16 patients, 9 were diagnosed with giant axonal neuropathy, 3 with Griselli syndrome, 2 with Menkes disease, and 2 with autosomal recessive woolly hair disease. In hair inspection, curly and tangled hair in patients with giant axonal neuropathy; silvery blond hair in patients with Griselli syndrome; sparse, coarse and light-colored hair in patients with Menkes disease; and hypotrichosis in patients with autosomal recessive woolly hair were remarkable findings. Dystrophic hair was detected in most of the patients on light microscopy. In addition, signs of Trichorexia nodosa, tricoptylosis, pili torti were found. In particular, pigment deposition in the hair shaft in 2 patients diagnosed with Griselli syndrome and pili torti findings in two patients with Menkes disease were the most important findings lightening the diagnosis. Detection of hair findings in physical examination and performing light microscopic evaluation facilitates the diagnosis of rare diseases accompanied by hair findings. Hair examination should be performed in every patient who presents with any complaint. Key words: Hair microscopy, giant axonal neuropathy, Griselli syndrome, Menkes disease, autosomal recessive woolly hair disease