Madelung's Disease with a Charcot-Marie-Tooth (CMT) Neuropathy Phenotype

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Madelung's Disease with a Charcot-Marie-Tooth (CMT) Neuropathy

Phenotype

(ANN April 15, 2008)

Marcelo M. Cruzeiro, Osvaldo J. M. Nascimento, Leopoldo A. Pires,

Juiz de Fora, Minas Gerais, Brazil, Giseli Quintanilha, Rio de

Janeiro, Brazil

OBJECTIVE: To report four patients of the same family presenting an

association of Madelung s disease with a Charcot-Marie-Tooth (CMT)

neuropathy phenotype.

BACKGROUND: Madelung s disease or multiple symmetric lipomatosis is a

rare disease, which is characterized by non-encapsulated accumulation

of fat, generally located symmetrically around the neck and

shoulders. The aetiology is unknown, but is often seen in patients

with a history of chronic alcoholism and it is accompanied by

metabolic abnormalities. Madelung s cervical lipomatosis associated

with a polyneuropathy is a rare clinical presentation.

DESIGN/METHODS: Three men (75, 78 and 63 y.o.) and one woman (72

y.o) of the same family presented systemic lipomatosis with cervical

Madelung characteristics. Their parents had no neurological problem.

All the three patients referred difficult to walk since infancy.

Actually they are not able to walk alone. Cervical fat deposits

appeared during adult life. The neuropathy phenotype is conspicuous

with a previous CMT diagnosis.

RESULTS: Wasting distal muscles and contractures of the hands and

feet; absent of tendon reflexes, sensory loss (thermal, pain,

vibration and pressure) in distal lower and upper limbs and pes cavus

were seen in all three cases. Drop foot was present in all the

patients and they needed support to walk. Neuropathic pain was

referred by the female patient. EDx showed reduced CMAP and SNAP

amplitudes in all cases. NCV was >38 m/s. Family history disclosed a

case of death due to a complicated mediastinal lipomatosis surgery.

CONCLUSIONS/RELEVANCE: Facing a patient with a family history and

presenting a sensory and motor axonal polyneuropathy associated to

Madelung s phenotype we should disclose CMT neuropathy and consider

familial lipomatosis polyneuropathy.