Abstract：
INTRODUCTION:The recent discovery of the dystrophin-associated complex of glycoproteins led to the delineation of sarcoglycanopathies, a phenotypically similar to dystrophinopathies group of clinically heterogeneous and progressive muscular dystrophies. The objective of this paper is to report the clinical, biochemical, histological, immunohistochemical and molecular genetics characteristics observed in a case of adhalinopathy (alpha-sarcoglycanopathy or LGMD2D) presenting in early months of life and resembling congenital muscular dystrophy. 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.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Castro-Gago M,Novo-Rodríguez MI,Pintos-Martínez E,Gallano P,Eirís-Puñal Jsubject
Has Abstractpub_date
2001-04-01 00:00:00pages
631-5issue
7eissn
0210-0010issn
1576-6578journal_volume
32pub_type
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