Yukio Sawaishi - Academia.edu (original) (raw)
Papers by Yukio Sawaishi
Tohoku Journal of Experimental Medicine, 1998
Tohoku Journal of Experimental Medicine, 1998
Journal of Child Neurology, Mar 1, 2002
Usually, however, this type of reaction would be accompanied by skin eruption as well as stomatit... more Usually, however, this type of reaction would be accompanied by skin eruption as well as stomatitis.lz From the limited published reports, it appears that valproateinduced stomatitis can have varied manifestations. Perhaps this lack of a single, easily described oral lesion has made this side effect more difficult for clinicians to recognize. Patients taking a valproic acid derivative with severe inflammatory mucosal abnormalities, particularly those functionally impaired in eating and speaking, should be evaluated by an oral health care specialist for this adverse effect and therapy cessation considered.
Journal of Child Neurology, Mar 1, 2002
Usually, however, this type of reaction would be accompanied by skin eruption as well as stomatit... more Usually, however, this type of reaction would be accompanied by skin eruption as well as stomatitis.lz From the limited published reports, it appears that valproateinduced stomatitis can have varied manifestations. Perhaps this lack of a single, easily described oral lesion has made this side effect more difficult for clinicians to recognize. Patients taking a valproic acid derivative with severe inflammatory mucosal abnormalities, particularly those functionally impaired in eating and speaking, should be evaluated by an oral health care specialist for this adverse effect and therapy cessation considered.
No to hattatsu. Brain and development, Sep 1, 2006
Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal m... more Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.
No to hattatsu. Brain and development, Sep 1, 2006
Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal m... more Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.
Pediatric Neurology, 1999
The authors report a case of subacute sclerosing panencephalitis in a child who had measles durin... more The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.
Pediatric Neurology, 1999
The authors report a case of subacute sclerosing panencephalitis in a child who had measles durin... more The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.
Journal of Inherited Metabolic Disease, Feb 1, 1999
3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deÐciency (3-MGC acidur... more 3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deÐciency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This Ðnding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.
Journal of Inherited Metabolic Disease, Feb 1, 1999
3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deÐciency (3-MGC acidur... more 3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deÐciency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This Ðnding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.
日本先天代謝異常学会雑誌, Oct 15, 1997
日本先天代謝異常学会雑誌, Oct 15, 1997
No to hattatsu = Brain and development, 2006
Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal m... more Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.
No to hattatsu = Brain and development, 2006
Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal m... more Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.
Journal of Inherited Metabolic Disease, 1999
3‐Methylglutaconic (3‐MGC) aciduria with 3‐methylglutaconyl‐CoA hydratase deficiency (3‐MGC acidu... more 3‐Methylglutaconic (3‐MGC) aciduria with 3‐methylglutaconyl‐CoA hydratase deficiency (3‐MGC aciduria type I) is a rare inherited metabolic disease of L‐leucine catabolism. We describe a 9‐month‐old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3‐MGC aciduria type I, suggesting it may present as a neurometabolic disease.
Journal of Inherited Metabolic Disease, 1999
3‐Methylglutaconic (3‐MGC) aciduria with 3‐methylglutaconyl‐CoA hydratase deficiency (3‐MGC acidu... more 3‐Methylglutaconic (3‐MGC) aciduria with 3‐methylglutaconyl‐CoA hydratase deficiency (3‐MGC aciduria type I) is a rare inherited metabolic disease of L‐leucine catabolism. We describe a 9‐month‐old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3‐MGC aciduria type I, suggesting it may present as a neurometabolic disease.
Pediatric Neurology, 1999
The authors report a case of subacute sclerosing panencephalitis in a child who had measles durin... more The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.
Pediatric Neurology, 1999
The authors report a case of subacute sclerosing panencephalitis in a child who had measles durin... more The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.
Tohoku Journal of Experimental Medicine, 1998
Tohoku Journal of Experimental Medicine, 1998
Journal of Child Neurology, Mar 1, 2002
Usually, however, this type of reaction would be accompanied by skin eruption as well as stomatit... more Usually, however, this type of reaction would be accompanied by skin eruption as well as stomatitis.lz From the limited published reports, it appears that valproateinduced stomatitis can have varied manifestations. Perhaps this lack of a single, easily described oral lesion has made this side effect more difficult for clinicians to recognize. Patients taking a valproic acid derivative with severe inflammatory mucosal abnormalities, particularly those functionally impaired in eating and speaking, should be evaluated by an oral health care specialist for this adverse effect and therapy cessation considered.
Journal of Child Neurology, Mar 1, 2002
Usually, however, this type of reaction would be accompanied by skin eruption as well as stomatit... more Usually, however, this type of reaction would be accompanied by skin eruption as well as stomatitis.lz From the limited published reports, it appears that valproateinduced stomatitis can have varied manifestations. Perhaps this lack of a single, easily described oral lesion has made this side effect more difficult for clinicians to recognize. Patients taking a valproic acid derivative with severe inflammatory mucosal abnormalities, particularly those functionally impaired in eating and speaking, should be evaluated by an oral health care specialist for this adverse effect and therapy cessation considered.
No to hattatsu. Brain and development, Sep 1, 2006
Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal m... more Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.
No to hattatsu. Brain and development, Sep 1, 2006
Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal m... more Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.
Pediatric Neurology, 1999
The authors report a case of subacute sclerosing panencephalitis in a child who had measles durin... more The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.
Pediatric Neurology, 1999
The authors report a case of subacute sclerosing panencephalitis in a child who had measles durin... more The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.
Journal of Inherited Metabolic Disease, Feb 1, 1999
3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deÐciency (3-MGC acidur... more 3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deÐciency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This Ðnding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.
Journal of Inherited Metabolic Disease, Feb 1, 1999
3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deÐciency (3-MGC acidur... more 3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deÐciency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This Ðnding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.
日本先天代謝異常学会雑誌, Oct 15, 1997
日本先天代謝異常学会雑誌, Oct 15, 1997
No to hattatsu = Brain and development, 2006
Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal m... more Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.
No to hattatsu = Brain and development, 2006
Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal m... more Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.
Journal of Inherited Metabolic Disease, 1999
3‐Methylglutaconic (3‐MGC) aciduria with 3‐methylglutaconyl‐CoA hydratase deficiency (3‐MGC acidu... more 3‐Methylglutaconic (3‐MGC) aciduria with 3‐methylglutaconyl‐CoA hydratase deficiency (3‐MGC aciduria type I) is a rare inherited metabolic disease of L‐leucine catabolism. We describe a 9‐month‐old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3‐MGC aciduria type I, suggesting it may present as a neurometabolic disease.
Journal of Inherited Metabolic Disease, 1999
3‐Methylglutaconic (3‐MGC) aciduria with 3‐methylglutaconyl‐CoA hydratase deficiency (3‐MGC acidu... more 3‐Methylglutaconic (3‐MGC) aciduria with 3‐methylglutaconyl‐CoA hydratase deficiency (3‐MGC aciduria type I) is a rare inherited metabolic disease of L‐leucine catabolism. We describe a 9‐month‐old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3‐MGC aciduria type I, suggesting it may present as a neurometabolic disease.
Pediatric Neurology, 1999
The authors report a case of subacute sclerosing panencephalitis in a child who had measles durin... more The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.
Pediatric Neurology, 1999
The authors report a case of subacute sclerosing panencephalitis in a child who had measles durin... more The authors report a case of subacute sclerosing panencephalitis in a child who had measles during the neonatal period. At 3 years, 6 months of age, over a period of a few weeks, the patient lost the ability to sit unaided as a result of progressive truncal ataxia, without apparent cognitive changes, simulating acute cerebellar ataxia. His symptoms improved in 1 month, and he was able to walk again with support, but mental alteration and periodic mild head nodding on awakening followed. His illness was diagnosed as subacute sclerosing panencephalitis on the basis of the elevated titers of measles antibodies in the cerebrospinal fluid. Measles infection before 1 year of age is a risk factor of subacute sclerosing panencephalitis, but reports about patients with neonatal measles infection are rare. Immaturity of the brain at the time of measles infection may not only be a risk factor but may also influence the clinical course of the disease.