Abstract | INTRODUCTION: CLINICAL CASE: An 12-year old school boy, the third son of a healthy, young, non consanguineous couple, presented at birth with bilateral cleft lip, cleft palate and mild hypotonia. At age 6 months it was believed he suffered from a benign form of congenital muscular dystrophy on the basis of clinical, biochemical, electrophysiological and histological findings. From 5 years onwards he had frequent falls and climbing stairs had become increasingly difficult. Also, a positive Gowers 'sign, mild calf hypertrophy, high serum creatine-phosphokinase level and myopathic electromyographic features were present; otherwise, cardiological evaluation and intelligence were normal. A repeated muscular biopsy at 10 years showed dystrophic features as well as selective deficiency of adhalin on immunostaining. DNA analysis demonstrated the patient being homozygote for a R77C mutation. Actually, a marked lumbar lordosis and waddling gait, an impossibility of climbing stairs and arising from the floor in addition to absent rotulian reflexes and mild Achilles retraction are present. CONCLUSIONS:
LGMD2D may present in the first months of life mimicking congenital muscular dystrophy. It seems reasonable that biopsies of all new cases of muscular dystrophies be selectively immohistochemical analyzed, and when it is possible the diagnosis should be confirmed by DNA analysis.
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Authors | M Castro-Gago, M I Novo-Rodríguez, E Pintos-Martínez, P Gallano, J Eirís-Puñal |
Journal | Revista de neurologia
(Rev Neurol)
2001 Apr 1-15
Vol. 32
Issue 7
Pg. 631-5
ISSN: 0210-0010 [Print] Spain |
Vernacular Title | Adhalinopatía primaria (LGMD2D) de inicio en los primeros meses de la vida que simula una distrofia muscular congénita. |
PMID | 11391490
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- Biomarkers
- Biopsy
- Child
- Child, Preschool
- Humans
- Infant
- Male
- Muscle, Skeletal
(pathology)
- Muscular Dystrophies, Limb-Girdle
(genetics, pathology, physiopathology)
- Mutation
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