• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.295-301
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• 2003

Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.

• PNF and Movement
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• v.14 no.3
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• pp.237-244
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• 2016

Purpose: This case report examines the influence of proprioceptive neuromuscular facilitation (PNF) combined with a dynamic neuromuscular stabilization approach on balance in patients with cerebellar atrophy. Methods: The target subject of this case report was a 34-year-old woman who was informed of the purpose of this research and voluntarily agreed to participate in it. The case report conformed to research ethics based on the Helsinki Declaration. The target subject was confirmed to have cerebellar atrophy from an unknown cause in 2009 and was diagnosed with slight ataxia. At that time, she could carry out daily activities without physical therapy. On May 19, 2015, she suffered both a subdural hemorrhage (SDH) and subarachnoid hemorrhage (SAH) in a traffic accident. She was urgently moved to the emergency room and managed by nonsurgical treatment, and then, the cerebellar atrophy and ataxia gradually deteriorated. To evaluate the patient's balance capacity before and after intervention, the trunk impairment scale (TIS), trunk impairment scale (OLST) during eye-closing/opening, timed up and go test (TUG), and visual analogue scale (VAS) were conducted. The PNF intervention program was executed for 30 min, four times a week, for three weeks. Results: The TIS and OLST during eye-closing/opening were improved by as much as a point, by 8.15 s and 6.21 s, respectively, after applying the PNF program. TUG and VAS decreased by 1.33 s and 3 points, respectively, after intervention. According to the result, the OLST during eye-closing/opening and VAS improved remarkably in comparison with those before intervention. Conclusion: As the final result of the case report, PNF intervention combined with DNSA more effectively improved the static balance capacity, such as the OLST during eye-closing/opening and VAS, compared to the dynamic balance capacity. In addition, the intervention duration and period of the exercise program are recommended to be more than 1 h a day for four weeks considering the learning ability of a patient with cerebellar atrophy.

• Sleep Medicine and Psychophysiology
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• v.12 no.1
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• pp.58-63
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• 2005

Objectives: REM sleep behavior disorder (RBD), characterized by excessive motor activity during REM sleep, is associated with loss of muscle atonia. In recent years, it has been reported that RBD has high co-morbidity with CNS disorders (especially, Parkinson's disease, dementia, multiple system atrophy, etc.). We aimed to assess differences in clinical and polysomnographic findings among RBD patients, depending on the presence or absence of central nervous system (CNS) disorders. Methods: The medical records and polysomnographic data of 81 patients who had been diagnosed as having RBD were reviewed. The patients were classified into two groups: associated RBD (aRBD, i.e., with a clinical history and/or brain MRI evidence of CNS disorder) and idiopathic RBD (iRBD, i.e., without a clinical history and/or brain MRI evidence of CNS disorder) groups. Twenty-one patients (25.9%) belonged to the aRBD group and 60 patients (74.1%) belonged to the iRBD group. The clinical characteristics and polysomnographic findings of the two groups were compared. Results: Periodic limb movement disorder (PLMD), i.e., PLMI (periodic limb movement index)>5, was observed more frequently in the aRBD group than in the iRBD group (p<0.001, Fisher's exact test). Also, obstructive sleep apnea syndrome (OSAS), i.e., RDI (respiratory disturbance index)>5, was found more frequently in the aRBD group (p=0.0042, Fisher's exact test). The percentages for slow wave sleep and sleep efficiency were significantly lower in the aRBD group than in the iRBD group. Conclusion: We found that 1 out of 4 RBD patients had associated CNS disorders, warranting more careful neurological evaluation and follow-up in this category of RBD. In this category of RBD patients, we also found more frequent PLMD and OSAS. These patients were also found to have lower slow wave sleep and sleep efficiency. In summary, RBD patients with associated CNS disorders suffer from more disturbed sleep than those without them.