Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome.
The rigid spine syndrome is a disorder characterized by proximal muscle weakness and limitation in flexion of the cervical and dorsolumbar spine. Such phenotype may be caused by a variety of hereditary myopathies. We present the case of a 15-years-old boy with rigid spine syndrome and severe restrictive respiratory changes. Muscle biopsy revealed vacuolar myopathy with excessive deposition of PAS-positive material. Lysosomal acid maltase activity in cultured skin fibroblasts was reduced to 6% of control values. DNA analysis demonstrated novel mutation E888X of acid alpha-glucosidase gene with compound heterozygosity IVS1/E888X, confirming diagnosis of Pompe disease. We conclude that acid maltase deficiency should be considered in the diagnosis of rigid spine syndrome.
Kostera-Pruszczyk
Anna
A
Department of Neurology, Medical University of Warsaw, Poland. akostera@amwaw.edu.pl
Opuchlik
Andrzej
A
Lugowska
Agnieszka
A
Nadaj
Aleksandra
A
Bojakowski
Jacek
J
Tylki-Szymanska
Anna
A
Kaminska
Anna
A
D000293:Adolescent; D001706:Biopsy; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D018908:Muscle Weakness; D009132:Muscles / Q000473:pathology; D009154:Mutation; D013122:Spinal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D000520:alpha-Glucosidases / Q000235:genetics*
C509951:GAA protein, human; D000520:alpha-Glucosidases