Hemifacial Spasm in Albright's Hereditary Osteodystrophy with Pseudopseudohypoparathyroidism and Nephrogenic Diabetes Insipidus--Case Report
| Title: | Hemifacial Spasm in Albright's Hereditary Osteodystrophy with Pseudopseudohypoparathyroidism and Nephrogenic Diabetes Insipidus--Case Report |
|---|---|
| Authors: | Oyama, MD, Hirofumi; Kida, Yoshihisa; Tanaka, Takayuki; Iwakoshi, Takanori; Niwa, Masahiro; Kitamura, Ryuuji; Kobayashi, Tatsuya |
| Publisher: | Neurologia Medico-Chirurgica |
| Date Published: | June 01, 1995 |
| Reference Number: | 66 |
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This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)
We describe a patient who suffered from an unusual combination of symptoms and diseases. Albright's hereditary osteodystrophy (AHO), some physical manifestations of which are a round face, and short fingers and height, is often associated with pseudopseudohypoparathyroidism (PPHPT). AHO is rarely associated with hemifacial spasms or nephrogenic diabetes insipidus (NDI). This man suffered from all of these maladies.
Case Report
Our patient was a stocky 30-year-old man with short fingers and toes. (His mother also had short fingers.) One side of his face had been spasming for two years.
The diagnoses of AHO and PPHPT were made after computed tomography, tests, laboratory examinations, and angiography revealed some disturbing abnormalities. There was calcification and tissue damage in the brain. The ureters and pelvis were dilated. His phosphorous excretion rate was somewhat low. And some very tortuous arteries were inhibiting blood passage and nerve transmission.
The results of an operation were mixed. The hemifacial spasms attenuated somewhat but did not cease completely. Hypernatremia (excessive sodium in the blood) occurred. There was slightly more than the normal amount of antidiuretic hormone (ADH) in the serum. The urine volume and osmolality did not respond to continuous intravenous infusion of vasopressin. This led to a diagnosis of NDI. Dehydration disappeared when he drank as much water as he wanted.
Discussion
Based on operative and post-operative findings, we determined that the facial muscles were spasming for one of two reasons:
- Messages from the brain did not reach the face because the twisted arteries compressed the facial nerves; thus the facial muscles spasmed. (A malfunction of a G protein may have disfigured the arteries.)
- An impaired central and peripheral nervous system could have caused the muscles to spasm. AHO and PPHPT have been known to affect this system.



