Table 5 Frequency of neurologic features reported (n = 100) in trichothiodystrophy patients
Patients No. (%)
Developmental delay or intellectual impairment96 (86%)
    Intellectual impairment84 (75%)
    Developmental delay76 (68%)
    Impaired motor control/psychomotor retardation41 (37%)
    Sociable/outgoing behaviour17 (15%)
Clinical neurologic findings84 (75%)
    Microcephaly46 (50%)
    Abnormal gait/ataxia29 (26%)
    Audiologic exam performed: normal hearing; sensorineural hearing loss20 (18%); 5 (4%)
    Abnormal deep tendon reflex: increased; decreased15 (13%); 1 (1%)
    Electroencephalogram: normal; abnormal14 (13%); 13 (12%)
    Abnormal muscle tone: increased; diminished8 (7%); 11 (10%)
    Nerve conduction velocity performed: normal; slow9 (8%); 3 (3%)
    Spasticity11 (10%)
    Intention tremor8 (7%)
    Seizure7 (6%)
    Paresis/plegia6 (5%)
    Dysarthria5 (4%)
    Pyramidal signs5 (4%)
    Peripheral neuropathy2 (2%)
Neuroimaging abnormality26 (23%)
    Dysmyelination16 (14%)
    Atrophy: cerebellar; cortical5 (4%); 3 (3%)
    Dilated ventricles4 (4%)
    Calcifications2 (2%)
    Other*5 (4%)
No abnormality reported12 (11%)
Total112 (100%)
  • *“Other” refers to partial agenesis of corpus callosum (1 patient), slight widening of subarachnoid spaces (1), thin corpus callosum (1), cerebral infarction (1), focal grey matter heterotopia and acute necrotising encephalopathy (1).