Adult Fanconi syndrome with proximal muscle weakness and hypophosphatemic osteomalacia: report of a case.
A 42-year-old female presented with progressive proximal muscle weakness, generalized hyperreflexia, marked bone pain, severe lumbago and knee arthralgia. Electromyographic study showed short-duration (5-10 msec), variable amplitude (200-2500 microV) polyphasic potentials. A muscle biopsy specimen revealed non-specific type II fiber atrophy. After a comprehensive laboratory work-up, adult Fanconi syndrome was diagnosed. The patient's symptoms, including bone pain and proximal muscle weakness, were relieved after a six-week supplement of tricalcium phosphate, vitamin D3 and sodium bicarbonate. The hyperreflexia also became less brisk.
Department of Neurology, National Taiwan University Hospital, Taipei, R.O.C.
L M
LM
Lian
Y C
YC
Chang
C C
CC
Yang
J C
JC
Yang
K P
KP
Kao
M Y
MY
Chung
D000328:Adult; D005198:Fanconi Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D017674:Hypophosphatemia / Q000209:etiology*; D009133:Muscular Atrophy / Q000209:etiology; D009135:Muscular Diseases / Q000209:etiology*; D010018:Osteomalacia / Q000209:etiology*