Introduction: The neuroaxonal dystrophies make up a group of neurodegenerative disorders of unknown origin, which are characterized by all showing axonal lesions. The infantile form, or Seitelberger s disease, is one of the forms of earliest onset and rapid progression. The clinical, neurophysiological and pathological criteria described by Aicardi and Castelein in 1979 are still valid. However, we should emphasise the great usefulness of cerebral MR scanning in making an early diagnosis of this condition.
Clinical cases: We report two brothers, sons of consanguineous parents, who fulfilled the above clinical criteria. Their illness presented before the age of three years, with arrested psychomotor development followed by regression, an initial hypotonia syndrome which progressed to spastic tetraplegia, optic atrophy and progressive deafness, blindness and dementia. Neurophysiological findings were of central conduction disorders, and chronic denervation was shown on EMG. On EEG there were high frequency, high voltage rhythms. MR scanning showed the cerebral cortex to become atrophied and hyperintense at an early stage. On biopsy of the sural nerve and of skin there was spheroid swelling of the axons with tubulous vesicular material seen in myelinated and nonmyelinated axons.
Conclusions: We reviewed the literature published over the past ten years (1990 2000). From this we conclude that on the initial clinical and neurophysiological criteria of Aicardi and with the aid of current neuroimaging techniques, the diagnosis may be suspected sufficiently early so as to permit genetic counselling. This would help to avoid further, high risk pregnancies, even before the diagnosis had been confirmed by the biopsy findings.