Trichothiodystrophy with neurologic involvement: an adult and fertil case

Abstract

Background: Trichothiodystrophy (TTD) is a rare multisystem, autosomal recessive disease characterized by numerous symptoms affecting organs derived from the ectoderm and neuroectoderm mainly. Findings: Here, we reported a case with TTD that is adult, nonphotosensitive, fertile and important neurological signs. Our patient has mental retardation, ataxia, peripheral neurophathy, sphincter dysfunctions, dysmorphologic face,short satuture, skeletal abnormalities, sparse hair, and ichthyosis. Conclusion: TTD with its typical phenotypical and neurological findings-such as in our case- should be considered in differantial diagnosis of variety neurologic diseases.