A Case of a Middle-Aged Woman with Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome Associated with Atrophy of the Cerebral Cortex.
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Accession number;01A0695927
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| Title;A Case of a Middle-Aged Woman with Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome Associated with Atrophy of the Cerebral Cortex. |
| Author;
KATO SHIGEO
(Kiseikai Shinfujibyoin Naika)
NAKAJIMA KAZUHIKO
(Kiseikai Shinfujibyoin Naika)
KAWAKAMI MASATO
(Seimariannaidai Shinkeinaika)
INOUE YOSHITO
(Kanazawaidai Sogoiken Jinruiidengakukenkyubumon Seikagaku)
KUHARA TOMIKO
(Kanazawaidai Sogoiken Jinruiidengakukenkyubumon Seikagaku)
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Journal Title;Journal of the Medical Society of Toho University
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Journal Code:G0654A
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ISSN:0040-8670
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VOL.48;NO.3;PAGE.271-278(2001)
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| Figure&Table&Reference;FIG.2, TBL.1, REF.21 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;We treated a 52-year-old woman with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. For 19 years from birth, she had no mental retardation and lived a satisfactory life except for mildly slurred speech and cerebellar ataxia. She then began to show paresis of the lower extremities and frequent episodes of athetotic and convulsive attack, vomiting and unconsciousness. Because of progressive gait disturbance, namely (spastic) paraplegia in her lower extremities, she underwent elongation surgery for her legs at the age of 36. Though a congenital amino acid metabolism disorder was suspected by some neurologists then and later, she lived comparatively well under a regimen of lactulose and restricted protein intake. She was admitted to our hospital to establish a correct diagnosis. Neurological examination revealed mild impaired cognition without dysmnesia, and spastic paraplegia with gaze nystagmus, mild slurred speech, mild dysdiadochokinesis and mild dysmetria. By using fast atom bombardment tandem mass spectrometry (FABMS/MS), HHH syndrome was chemically diagnosed after the examination of homocitrulline in urine sample taken after cessation of lactulose administration. In addition, biochemical examination showed mild elevation of transaminases and mild deterioration in coagulation factor activity (Factors VII & X). Brain MRI showed cerebral atrophy (mainly in the anterior and parietal cortices) and high intensity areas (by T2-weighted images) in the anterolateral white matter and the left putamen, in addition to cerebellar atrophy. Our findings suggest that atrophy of both the cerebrum and the cerebellum was directly due to HHH syndrome. In conclusion, the existence of atrophy in cerebral cortices was remarkable in contrast to her mild cognitive impairment. (author abst.) |
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