Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with CMT presentation.

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J Neurol. 2005 Mar 7

Clinicopathological aspects of the neuropathy of neurogastrointestinal

encephalomyopathy (MNGIE) in four patients including two with a

Charcot-Marie-Tooth presentation.

Said G, Lacroix C, Plante-Bordeneuve V, Messing B, Slama A, Crenn P,

Nivelon-Chevallier A, Bedenne L, Soichot P, Manceau E, Rigaud D, Guiochon-Mantel

A, Matuchansky C.

Service de Neurologie, Centre Hospitalier Universitaire de Bicetre, 94275, Le

Kremlin Bicetre, France.

We report on four patients with severe polyneuropathy associated with intestinal

pseudoobstruction (MNGIE). Three patients presented characteristic supranuclear

ophthalmoplegia, and hyperdense signals on T2 weighted cerebral MRI and

dystrophic mitochondria in Schwann cells and in endothelial cells in nerve

biopsy specimens. Two of these patients had a Charcot-Marie-Tooth (CMT)

presentation. All three were heterozygous for a recessively transmitted double

substitution in the TP gene: Glu286Lys/Glu289Ala, Asp156Gly/Leu177Pro and

Glu289Ala/Gly387Asp. The fourth patient, who was the only patient of this series

with an affected sib, had no oculomotor manifestations, nor T2 hyperdense

signals on brain MRI, and no TP gene mutation and or morphological abnormalities

of mitochondria on electron microscopic examination. He was the only patient of

this series with an affected sib. The three patients with the full MNGIE

syndrome died before the age of 30 years. Detailed results of nerve pathology

show that severe axonal degeneration is associated with segmental abnormalities

of the myelin sheath in this syndrome which appears genetically heterogeneous.

Our findings suggest that only ophthalmoplegia and hyperdense signals on

cerebral MRI are directly related to the mitochondriopathy.