Adult metachromatic leukodystrophy: three cases with normal nerve conduction velocities in a family.

Here, we report three cases of late onset metachromatic leukodystrophy (MLD) within a family. The patients presented with psychiatric disturbances and dementia. The arylsulphatase A (ASA) level in leucocytes was zero in all the patients. The cranial magnetic resonance imaging (MRI) revealed bilateral symmetrical demyelination but the nerve conduction velocities were normal in all three cases. The clinical, biochemical, imaging and electrophysiological data of the family has been discussed.

Demonstration of frontal hypoperfusion in benign exertional headache by Technetium-99m-HMPAO SPECT.

We present a case of benign exertional headache (BEH) in a 15-yr-old boy. The patient suffered from exclusively exercise-induced headaches with migraine-like accompanying symptoms. No pathology could be detected by routine cardiovascular or neurological examinations by CT. The postexercise 99mTc-HMPAO brain SPECT performed during the provoked headache attack showed asymmetric bifrontal hypoperfusion. A second 99mTc-HMPAO study during a symptom-free phase under resting conditions was normal. The detection of impaired regional cerebral blood flow (rCBF) by 99mTc-HMPAO brain SPECT indicates a perfusion-related pathology in this type of headache. Analysis of rCBF with 99mTc-HMPAO in larger studies could be helpful in the clarification of BEH pathogenesis.