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Leigh syndrome
controlled with phenobarbitone and carbamazepine. Cerebral hemiatrophy was documented in all patients by CT and/or MRI. EEG showed ipsilateral slowing of background activity (delta and theta waves) associated in 2 patients, with low-voltage spike-and-slow-wave discharges involving the atrophic hemisphere. Until now, the syndrome has not been reported from the Middle East.
361. LEVELS OF FREE AMINO ACIDS IN CSF OF CHILDREN WITH MENTAL RETARDATION Shao Can-Zhen, Suzhou, China In order to evaluate the status of protein metabolism of brain tissue, we measured the concentrations of 7 individual amino acids in the CSF of 20 children with mental retardation (MR). All of them were first identified by the David Developmental screening test. Their ages were between 9 months and 12 years and the sex ratio was 1:0.66. Another group of 18 children were chosen as normal controls. We found that the CSF levels of isoleucine, leucine, valine, phenylalanine, and lysine were significantly lower in children with MR than in normal controls. The CSF levels of glycine and glutamine were within normal ranges. Our results strongly indicate that children with MR may have associated nutritional deficiency of brain tissue in protein metabolism, which is likely to affect mental development.
Table 361-1. Comparison of free amino acid concentration between normal children and children with MR
Amino Acid
Normal (n = 18)
MR group (n = 20)
P Value
Isoleucine Leucine Valine Phenylalanine Lysine Glycine Glulamine
0.92 --- 0.22 1.55 ± 0.21 3.36 ± 0.62 3.41 - 0.48 4.26 +-- 0.83 1.90 ± 0.09 22.40*
0.51 -+ 0.08 1.00 ± 0.17 1.30 ± 0.35 1.48 ± 0.20 0.42 --- 0.26 1.56 --- 0.28 38.99 ± 5.97
<.05 <.05 <.01 <.01 <.01 <.01
* From Pemy et al; J Chem Invest 1961; 40:1367.
Table 361-2. Regression analysis of 7 free amIno acids in CSF of children with MR
Code
Amino Acid
X4
Phenylalanine
Standard Regression Factor
F
r(MCR)
- 0.54
14.88
0.54
LEIGH SYNDROME Andrey Kesman, Ratil Cordoba, and Zen6n M. Sfaello, Cordoba, Argentina 362.
Two patients with Leigh syndrome are presented with acute evolution and atypical course. Both patients were males and were 5
months and 6 years of age. Vomiting, hypotonia, abnormal ocular movements, obnubilation, respiratory difficulty, and in the first patient convulsions began suddenly. In both boys, there was elevation in CSF protein concentration and hyperlacticacidemia. Areas of low attenuation occurred at the level of the basal ganglia in CT. Both boys died, the first one after 9 days and the second after 7 days of evolution. The anatomopathologic study demonstrated in both patients marked spongiosis involving mainly the neuropil. White matter lesions included loss of myelin. An intense capillary proliferation with endothelial swelling, in the tegmentum of the midbrain and pons, the periaqueductal gray matter, the substantia nigra and the posterior colliculi, the floor of the fourth ventricle, dentate nuclei, basal ganglia, and especially the putamen and caudate nuclei was seen.
CONVULSIVE DISORDERS IN FIRST YEAR OF LIFE: ETIOLOGIC-CLINICAL STUDY AND PROGNOSIS Zen6n M. Sfaello, Ratil Cordoba, and Andrey Kesman, Cordoba, Argentina 363.
Three hundred seventy-two children were studied who had more than one convulsive crisis between 2 and 12 months of life. They were grouped according to the age of their first crisis (between 2 and 6 mos and 7 and 12 mos). In all patients, sex, etiology, clinical form, and EEG were considered. Therapeutic responses and evaluations of their neurologic and intellectual states were conducted as well in a longitudinal way for 1 month to 18 years. In our series, 43.3% evolved toward normality, 51.6% had mental retardation-epilepsy-cerebral palsy, and 5.1% had trouble in learning. The most severe sequelae were observed among infants who had convulsive crises between 2 and 6 months and there were no therapeutic responses in the symptomatic convulsions of severe encephalopathy.
THE DEFECT OF DNA REPAIR IN A PATIENT WITH ATAXIA, MENTAL RETARDATION, MICROCEPHALY, AND SHORT STATURE Takanori Yamagata, Masutomo Miyao, Mariko Momoi, and Kumiko Takadaya, Tochigi and Tokyo, Japan 364.
The defect of DNA repair was detected in an 18-year-old girl with progressive cerebellar ataxia, pyramidal tract signs, mental retardation, microcephaly, and short stature, and without photosensitive skin lesions. She developed gradually progressing ataxia at the age of 12 years. MRI studies showed atrophy of the cerebellum and brainstem. The unscheduled DNA synthesis of her fibroblasts after ultraviolet irradiation was decreased to 50% compared with that of normal fibroblasts. The survival rate of her fibroblasts after ultraviolet irradiation was at the lower border of the normal range. Other laboratory tests of the serum including lactate, pyruvate, and amino acid were normal. These results suggested xeroderma pigmentosum (XP) group E; however, there has been no reported case of XP group E associated with involvement of the nervous system. In addition, she did not have photosensitive skin lesions. The clinical signs and impaired DNA repair system detected in this patient suggest a pathology similar to XP and Cockayne syndrome.
PEDIATRIC NEUROLOGY Vol. 11 No. 2 179
361. LEVELS OF FREE AMINO ACIDS IN CSF OF CHILDREN WITH MENTAL RETARDATION Shao Can-Zhen, Suzhou, China In order to evaluate the status of protein metabolism of brain tissue, we measured the concentrations of 7 individual amino acids in the CSF of 20 children with mental retardation (MR). All of them were first identified by the David Developmental screening test. Their ages were between 9 months and 12 years and the sex ratio was 1:0.66. Another group of 18 children were chosen as normal controls. We found that the CSF levels of isoleucine, leucine, valine, phenylalanine, and lysine were significantly lower in children with MR than in normal controls. The CSF levels of glycine and glutamine were within normal ranges. Our results strongly indicate that children with MR may have associated nutritional deficiency of brain tissue in protein metabolism, which is likely to affect mental development.
Table 361-1. Comparison of free amino acid concentration between normal children and children with MR
Amino Acid
Normal (n = 18)
MR group (n = 20)
P Value
Isoleucine Leucine Valine Phenylalanine Lysine Glycine Glulamine
0.92 --- 0.22 1.55 ± 0.21 3.36 ± 0.62 3.41 - 0.48 4.26 +-- 0.83 1.90 ± 0.09 22.40*
0.51 -+ 0.08 1.00 ± 0.17 1.30 ± 0.35 1.48 ± 0.20 0.42 --- 0.26 1.56 --- 0.28 38.99 ± 5.97
<.05 <.05 <.01 <.01 <.01 <.01
* From Pemy et al; J Chem Invest 1961; 40:1367.
Table 361-2. Regression analysis of 7 free amIno acids in CSF of children with MR
Code
Amino Acid
X4
Phenylalanine
Standard Regression Factor
F
r(MCR)
- 0.54
14.88
0.54
LEIGH SYNDROME Andrey Kesman, Ratil Cordoba, and Zen6n M. Sfaello, Cordoba, Argentina 362.
Two patients with Leigh syndrome are presented with acute evolution and atypical course. Both patients were males and were 5
months and 6 years of age. Vomiting, hypotonia, abnormal ocular movements, obnubilation, respiratory difficulty, and in the first patient convulsions began suddenly. In both boys, there was elevation in CSF protein concentration and hyperlacticacidemia. Areas of low attenuation occurred at the level of the basal ganglia in CT. Both boys died, the first one after 9 days and the second after 7 days of evolution. The anatomopathologic study demonstrated in both patients marked spongiosis involving mainly the neuropil. White matter lesions included loss of myelin. An intense capillary proliferation with endothelial swelling, in the tegmentum of the midbrain and pons, the periaqueductal gray matter, the substantia nigra and the posterior colliculi, the floor of the fourth ventricle, dentate nuclei, basal ganglia, and especially the putamen and caudate nuclei was seen.
CONVULSIVE DISORDERS IN FIRST YEAR OF LIFE: ETIOLOGIC-CLINICAL STUDY AND PROGNOSIS Zen6n M. Sfaello, Ratil Cordoba, and Andrey Kesman, Cordoba, Argentina 363.
Three hundred seventy-two children were studied who had more than one convulsive crisis between 2 and 12 months of life. They were grouped according to the age of their first crisis (between 2 and 6 mos and 7 and 12 mos). In all patients, sex, etiology, clinical form, and EEG were considered. Therapeutic responses and evaluations of their neurologic and intellectual states were conducted as well in a longitudinal way for 1 month to 18 years. In our series, 43.3% evolved toward normality, 51.6% had mental retardation-epilepsy-cerebral palsy, and 5.1% had trouble in learning. The most severe sequelae were observed among infants who had convulsive crises between 2 and 6 months and there were no therapeutic responses in the symptomatic convulsions of severe encephalopathy.
THE DEFECT OF DNA REPAIR IN A PATIENT WITH ATAXIA, MENTAL RETARDATION, MICROCEPHALY, AND SHORT STATURE Takanori Yamagata, Masutomo Miyao, Mariko Momoi, and Kumiko Takadaya, Tochigi and Tokyo, Japan 364.
The defect of DNA repair was detected in an 18-year-old girl with progressive cerebellar ataxia, pyramidal tract signs, mental retardation, microcephaly, and short stature, and without photosensitive skin lesions. She developed gradually progressing ataxia at the age of 12 years. MRI studies showed atrophy of the cerebellum and brainstem. The unscheduled DNA synthesis of her fibroblasts after ultraviolet irradiation was decreased to 50% compared with that of normal fibroblasts. The survival rate of her fibroblasts after ultraviolet irradiation was at the lower border of the normal range. Other laboratory tests of the serum including lactate, pyruvate, and amino acid were normal. These results suggested xeroderma pigmentosum (XP) group E; however, there has been no reported case of XP group E associated with involvement of the nervous system. In addition, she did not have photosensitive skin lesions. The clinical signs and impaired DNA repair system detected in this patient suggest a pathology similar to XP and Cockayne syndrome.
PEDIATRIC NEUROLOGY Vol. 11 No. 2 179