Question
T is a 12 year old girl born of consanguineous marriage, presented with tachypnea, easy fatigability, abdominal distention of 3 weeks duration. She has past history of progressive generalized muscle weakness of mild severity since 3 years of age associated with contracture of small joints of both hands. She has older brother 16 years old of age who also has progressive generalized muscle weakness associated with contracture of joints especially of lower legs and scoliosis. She has 2 sisters 10 and 14 year of age without medical problem.

On examination, she is thin, not dyspneic, has generalized muscle weakness, Gower’s sign positive, distant heart sound, pericardial rub, liver 2 cm below costal margin.

Investigation:
Echo study : normal size cardiac chamber with moderate pericardial effusion picture suggestive constrictive pericarditis .
CT scan : pericardial effusion and anterior localized thickening {6-8mm} of pericardium .
Thyroid function test : picture suggestive of hypothyroidism .
X ray of hand : no joint or bone deformity .
EMG study : consistent with chronic, diffuse, non-inflammatory, non-dystrophic myopathic process of mild to moderate severity. The proximal muscles are more significantly involved. Normal sensory and motor conduction studies, no evidence of anterior horn cell diseases.
CPK : 169 U, L .
Rheumatoid factor , ESR , blood urea is normal
Lysosomal enzyme study of blood show normal activity of alfa-iduronidase and beta-galactosidase within its reference range .
Treatment : She put on spironolactone and furosemide. Thyroxin supplementation was started.