[2 familial cases of metachromatic leukodystrophy of late onset]. / Deux cas familiaux de leucodystrophie métachromatique à expression tardive.

We report here a familial observation of metachromatic leukodystrophy (MLD) in 2 sisters. The very beginning, with only psychiatric manifestations at adolescence, could be precisely established. The evolution towards a dementia, and the evidence of a pyramidal syndrome oriented later towards a clearly organic disease. A very wide bilateral and symmetrical demyelination was shown by Magnetic Resonance imaging. The deficiency in arylsulfatase A activity oriented towards MLD which was confirmed by metachromatic deposits in the nerve biopsy. Molecular biology evidenced in the two, compound heterozygoty with both the classical mutation of the infantile form with loss of a splicing site at the level of intron 2, and the ileu > Ser 179 mutation frequent in adult forms.

[Pauci-symptomatic sensory polyneuropathy in Refsum's disease]. / Polyneuropathie sensitive pauci-symptomatique au cours d'une maladie de Refsum.

Refsum's disease is an autosomal recessive disease caused by defective alpha-oxidation of phytanic acid. The usual clinical presentation is the association of retinitis pigmentosa, ataxia and chronic severe sensorimotor polyneuropathy. A case of mild purely sensory neuropathy in a 40-year-old patient associated to high CSF protein level led to the diagnosis of Refsum's disease. The paucity of sensory symptoms and signs of neuropathy contrasted with severe reduction of motor and sensory nerve conduction velocities and markedly signs of sensory neuropathy observed in the nerve biopsy. Typical ring-scotomas, retinitis pigmentosa, anosmia, deafness, and high plasma phytanic acid level were present in extensive examination. There was no other case in the family.

Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). Report of a case and review of the literature.

The authors report the third published case of a Lhermitte-Duclos disease diagnosed preoperatively with the help of MRI, stressing its possible extension beyond the limits of the posterior fossa. The pertinent literature is reviewed concerning the clinical and radiological picture of this disease, as well as the different pathogenic hypothesis.