Search

• Brain-stem auditory evoked responses (BAERs) and somatosensory evoked responses (SERs) were studied in three patients and seven female relatives in three families with adrenoleukodystrophy (ALD). All patients with ALD had abnormal BAERs and SERs, reflecting the central demyelination occurring in ALD. Four of the seven female family members had abnormalities of SERs with or without abnormalities of BAERs, similar to those seen in the patients. We suggest that these abnormalities demonstrate the morphological effects of the ALD gene in the CNS and reflect the physiological alteration in the heterozygous females in families with ALD.

• In colpocephaly, a specific form of fetal ventricular configuration persists into postnatal life. The occipital horns are disproportionately large and dilated. The condition is associated with mental retardation and is easily recognized by computed tomography or pneumoencephalography. Eight new cases of this condition are described and the pathogenesis is discussed. It is concluded that colpocephaly is an error in morphogenesis of diverse origins.

• Six affected members from a family of 15 patients with familial startle disease (hyperexplexia) underwent extensive electrophysiologic evaluation. The most marked abnormality consisted of prominent C response 60 to 75 ms after median and peroneal nerve stimulation. The somatosensory evoked responses were also relatively high in amplitude. These findings suggest that hyperactive long-loop reflexes may constitute the physiologic basis of startle disease.