A severely brain-damaged case of 3-hydroxyisobutyric aciduria

• Published in: Brain & development (Tokyo. 1979) 2001-07, Vol.23 (4), p.243-245
• Main Authors: Sasaki, Masayuki, Iwata, Hideki, Sugai, Kenji, Fukumizu, Michio, Kimura, Masahiko, Yamaguchi, Seiji
• Format: Article
• Language: English
• Subjects: 3-Hydroxyisobutyric aciduria; Acidosis - drug therapy; Acidosis - urine; Biological and medical sciences; Brain Damage, Chronic - etiology; Child; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes; Dysmorphic features; Gas chromatography–mass spectrometry; Humans; Hydroxybutyrates - urine; Male; Medical sciences; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - drug therapy; Metabolism, Inborn Errors - urine; Nervous system (semeiology, syndromes); Neurology
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/S0387-7604(01)00196-6

We report a male case of 3-hydroxyisobutyric aciduria (3HiB-uria) with severe brain damage. He had mild asphyxia at birth. He needed tube feeding for a month. He showed mild dysmorphic features, including low set ears, a long philtrum and micrognathia. At 4 months of age he had acute encephalopathy. Thereafter, severe brain damage remained and mechanical ventilation care was needed all day. After he had been admitted to our hospital at 3 years of age, repeated organic acid analysis of urine confirmed the diagnosis of 3HiB-uria. This patient had been previously diagnosed as having cerebral palsy and sequelae of acute encephalopathy.