Muscle cramps, insuline resistance, acanthosis nigricans and acral hypertrphy sindrome : a potentially treatable condition
Altro
Data di Pubblicazione:
2009
Citazione:
Muscle cramps, insuline resistance, acanthosis nigricans and acral hypertrphy sindrome : a potentially treatable condition / A. Malavazos, A. Zanolini, V. Sansone, B. Fossati, M.C. Panzeri, G. Meola. ((Intervento presentato al 19. convegno Meeting of the European Neurological Society - ENS tenutosi a Milan nel 2009.
Abstract:
Objectives: A distinct syndrome characterized by muscle cramps,
insulin resistance, acanthosis nigricans and acral hypertrophy (Flier’s
syndrome) has been described as a sporadic or an autosomal recessive
condition. The patients described so far have no definite weakness or
S131
123
specific abnormalities on neurological examination. The muscle
cramps occur in proximal muscles and in the calves and worsen after
exercise. CK levels in this syndrome are frequently increased, while
EMG findings are usually normal. Muscle biopsy can show mild non
specific abnormalities. Diphenylhydantoin has been suggested to
improve muscle cramps and pain and to a minor degree, to improve
glucose intolerance, in a limited number of patients. We describe 3
related and 1 unrelated patient with muscle cramps associated with
insulin resistance, acanthosis nigricans, obesity.
Methods: The patients were subjected to: (1) physical examination
(search for acanthosis nigricans, waist to hip ratio, body mass index-
BMI); (2) muscle strength testings; (3) blood tests (CK; plasma
hormone levels; fasting insulin, oral glucose tolerance test, homeostasis
model assessment-HOMA to quantify the insulin resistance
index); (4) EMG; (5) abdomen CT scan; (6) muscle biopsy. Patients
were then subjected to: (1) diet and increased physical activity; (2)
oral phenytoin 50 mg tid.
Results: The diagnostic work-up and differential diagnosis of
painful myopathies and high CK is presented in 4 patients, including
screening for insulin resistance, led to rule out muscular dystrophies
and metabolic myopathies. The findings of mild proximal weakness,
high CK, acanthosis nigricans and insulin resistance fulfilled the
diagnosis of Flier’s Syndrome. In the most affected patient, phenytoin
controlled muscle cramps completely 4 months after starting treatment.
Insulin resistance was also reduced significantly (HOMA before
treatment: 5.2; HOMA after treatment: 1.68).
Conclusions: Unexplained muscle cramps or painful myopathy, in
the presence of acanthosis nigricans should alert the clinician towards a
possible associated insulin resistant condition. This underlying metabolic
disorder should be thoroughly looked for, because despite the
degree of severity of the insulin resistance, this may be clinically silent
as it was in our patients. The diagnosis of the syndrome of muscle
cramps, insulin resistance and acanthosis nigricans has important
clinical implications given the treatable nature of this condition.
Tipologia IRIS:
14 - Intervento a convegno non pubblicato
Keywords:
Muscle cramps ; insuline resistance ; acanthosis nigricans ; acral hypertrophy syndrome
Elenco autori:
A. Malavazos, A. Zanolini, V. Sansone, B. Fossati, M.C. Panzeri, G. Meola
Link alla scheda completa: