PP04.10 – 2544: Trichothiodystrophy presenting with cardiomyopathy and recurrent arterial ischemic strokes

• Published in: European journal of paediatric neurology Vol. 19; p. S44
• Main Authors: Harmsen, S, Distelmaier, F, Frank, J, Karenfort, M, Tibussek, D
• Format: Journal Article
• Language: English
• Published: Elsevier Ltd 01-05-2015
• Subjects: Neurology; Pediatrics
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/S1090-3798(15)30143-4

Objective Considerable differences exist between arterial ischemic stroke (AIS) in childhood and adults. Among others, a wider spectrum of rare etiologies has to be considered in children. Trichothiodystrophy (TTD) is a rare genetic syndrome characterized by typical hair texture, variable photosensitivity, xerosis cutis, short stature and psychomotor retardation. We report a child with TTD and recurrent AIS. Methods Case report. Results A 3-year-old boy presented with acute onset of left hemiparesis and facial nerve palsy. Brain magnetic resonance imaging (MRI) revealed an extensive acute ischemic infarction involving the right middle cerebral artery (MCA) territory with sparing of the basal ganglia. Intravenous thrombolysis with tPA within 3 hours after onset led to recanalisation and dramatic clinical improvement. Aspirin treatment was initiated for secondary stroke prevention. However, on day 7 a focal epileptic seizure occurred. MRI showed acute DWI/ADC positive lesions in the left MCA territory. Intravenous thrombolysis was administered again, however, without success. Two days later he suffered from reinfarction involving his right MCA and left posterior cerebral artery. There was no evidence of thrombophilia, dyslipidaemia, sickle cell disease, metabolic or autoimmune disease. His past medical history was relevant for developmental delay and dilated cardiomyopathy of unknown origin. A dilated left ventricle but no thrombi could be detected with echocardiography. Since birth he had been suffering from dry, scaly skin. A striking hair texture with brittle, short hair with patchy thinning and alopecic areas was found. Electron and polarization microscopy confirmed TTD. Conclusion This is the second documented case of AIS associated with TTD (Toelle et al., 2001). Uncommon hair structure in combination with cardiomyopathy and stroke should lead to investigations for TTD. Although AIS secondary to cardiac embolism has been suggested, the aggressive course in our patient led us to speculate that additional factors inherent in TTD might have contributed.