A Case of Hereditary Sensory and Autonomic Neuropathy Type II with Retinitis Pigmentosa
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Accession number;06A0105396
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| Title;A Case of Hereditary Sensory and Autonomic Neuropathy Type II with Retinitis Pigmentosa |
| Author;
IWANAGA KEISUKE
(Nagasaki Kita Hospital, Nagasaki, Jpn)
NAKAO YOKO
(Nagasaki Kita Hospital, Nagasaki, Jpn)
TOMITA ITSURO
(Nagasaki Kita Hospital, Nagasaki, Jpn)
SATOH AKIRA
(Nagasaki Kita Hospital, Nagasaki, Jpn)
SETO MAKIKO
(Nagasaki Kita Hospital, Nagasaki, Jpn)
TSUJIHATA MITSUHIRO
(Nagasaki Kita Hospital, Nagasaki, Jpn)
OHNISHI AKIO
(Ipponmatsu Hospital, Fukuoka, Jpn)
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Journal Title;Acta Med Nagasaki Ensia
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Journal Code:X0952A
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ISSN:0001-6055
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VOL.50;NO.3;PAGE.119-121(2005)
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| Figure&Table&Reference;FIG.2, REF.17 |
| Pub. Country;Japan |
| Language;English |
| Abstract;A 20-year-old female had noted a mild truncal instability during her childhood. At 12 years of age, she became aware of decreased visual acuity. She was made a diagnosis of retinitis pigmentosa at that time. On admission, deep tendon reflexes were absent in all limbs. The patient's deep sensations were impaired throughout her entire body, except for her face and neck. Superficial sensations were impaired on her legs. Sensory nerve action potentials were not elicited, but motor nerve conductions were all within normal ranges. A biopsy of the sural nerve showed a marked reduction in the myelinated fibers, but not in the unmyelinated fibers. The neurological findings were consistent with the hereditary sensory and autonomic neuroathy type II disease. The relationship between these two diseases remains unsolved. (author abst.) |
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