A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Intellectual Disability

The document reported a case of trichothiodystrophy in a patient who also exhibited autism, mental retardation, and seizures. The diagnosis was confirmed by identifying brittle hair with a significant reduction in sulfur-rich amino acids and specific microscopic features, such as "tiger tail" patterns under polarizing microscopy and trichoschisis under scanning electron microscopy. The most notable hair alterations were found in the frontal and occipital regions, with only microscopic changes observed in the occipital hair. This case was considered an unusual manifestation of trichothiodystrophy.