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Correlation of MRI with clinical features in adrenoleukodystrophy
and then remitted for several days. Examination during clicking revealed only synchronous myoclonic movements of the soft palate and posterior pharynx. Audiography and MRI were normal. Palatal myoclonus stopped completely after 1 year. Patient 2: At age 10 years, this normal girl developed continuous clicking. Examination was normal except for audible clicking and symmetric palatal and pharyngeal myoclonus at 30 twitches/min. MRI and audiography were normal. At age 11 ~/2years, the clicking suddenly stopped with a loud " p o p . " Even though the cause of palatal myoclonus in these children is unknown, knowledge of the benign evolution may be reassuring to other families.
170. CORRELATION OF MRI WITH CLINICAL FEATURES IN ADRENOLEUKODYSTROPHY Ki-Joong Kim, Jee-Suk Yu, Yong-Seung Hwang, and InOne Kim, Seoul, Korea Seven male patients with X-linked adrenoleukodystrophy, age of onset 5-13 years, were reviewed. The initial clinical manifestations were as follows: behavioral change in 4, visual disturbance in 3, skin pigmentation in 2, poor school performance in 2, and gait disturbance in 1. All 3 with dark pigmentation of skin had elevated plasma ACTH level and low serum cortisol concentration not increased by ACTH stimulation. CSF features included elevated albumin, IgG, and IgG index in 4. Of the 6 plasma very long chain fatty acid analyses performed, all demonstrated increased C26:0 level and C26:0/C22:0 ratio. Cranial MRI revealed typical bilaterally symmetric hyperintensity on T 2weighted images in the periventricular white matter of parietooccipital areas in 5. The other 2 had frontal or multifocal patchy involvement. All 5 who manifested visual disturbance or blindness, had involvement of the periventricular white matter of parieto-occipital areas. Of the 4 who manifested motor disturbance, including gait disturbance or quadriparesis, 3 had involvement of the internal capsule or corticospinal tract. Of the 4 who presented cognitive dysfunction or behavioral abnormality, 2 manifested frontal involvement. Involved locations on brain MRI findings were quite well correlated with the neurological manifestations.
171. CORRELATION OF MRI FINDINGS WITH CLINICAL FEATURES IN LISSENCEPHALY S o o - A h n Chae, T a e - S u n g Ko, K i - J o o n g Kim, YongSeung Hwang, Shi-Kyung Lee, and In-One Kim, Seoul, Korea We analyzed anatomic details in 15 patients with lissencephaly and correlated these findings with clinical manifestations. MRI findings were graded by the number of gyri anterior to the sylvian fissure at the level of the frontal horns on axial image as mild (>4), moderate (3-4), or severe (<3). All 7 patients with mild lissencephaly had appropriate myelination. The distribution of the pachygyric areas were as follows: frontal in 4, parietal in 3, occipital in 2, and temporal in 1. One patient had whole pachygyria and 1 had parietal agyria. The additional findings included colpocephaly and hypoplasia of the cerebellar vermis in 1 patient each. Two patients had heterotopia. Hypogenetic corpus callosum and brain atrophy each occurred in individual patients. Of the 6 patients with moderate lissencephaly, 4 had appropriate myelination. Five patients had whole pachygyria and
1 frontal pachygyria. Two patients had polymicrogyria, on the occipital and parietal regions, respectively. The other findings included colpocephaly in 5, hypoplasia of the cerebellar vermis in 1, agenesis of the corpus callosum in 2, brain atrophy in 2, and heterotopia in 1. Of the 2 patients with severe lissencephaly, 1 had appropriate myelination, and all exhibited agyria. All patients had colpocephaly and agenesis of the corpus callosum. Hypoplasia of the cerebellar vermis and brain atrophy were found in 1 respectively. The patients with mild lissencephaly demonstrated neurologic features as follows: microcephaly in 5, developmental delay in 6, mental retardation in 4, growth deficiency in 1, seizures in 3, and hypotonia in 1. Of the patients with moderate lissencephaly 4 had microcephaly, 6 developmental delay, 2 mental retardation, 1 growth deficiency, 5 seizures, and 2 spasticity. Two patients with severe lissencephaly had developmental delay with dysmorphism and 1 had microcephaly. The severity of the lissencephaly seems to be correlated with neurologic deficits.
172. DIVERSITY OF BRAIN IMAGING IN MELAS Tae-Sung Ko, Ki-Joong Kim, Yong-Seung Hwang, and InOne Kim, Seoul, Korea
Eight patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS), age of onset 1-9 years, were reviewed. All had multiple strokelike episodes with neurologic deficits (i.e., seizure, altered consciousness, hemiplegia, or hemiparesis). Other neurologic manifestations included muscle weakness in 6, episodic headache with vomiting in 4, aphasia or dysarthria in 4, visual disturbance in 3, heating loss in 2, and short stature in 2. All had lactic acidosis. On modified Gomori trichrome straining of the muscle biopsy specimen, 6 had typical ragged-red fibers and 2 had suspicious findings. On ultrastructural examination all demonstrated structurally abnormal mitochondria (pleoconial or megaconial type). Of the 3 mitochondrial DNA analyses performed, one had point mutation at position 3,243 in the tRNA I~u
173. POLYSOMNOGRAPHIC STUDY OF BIOELECT R I C A L M A T U R A T I O N IN P R E T E R M AND TERM NEWBORNS Magda Lahorgue Nunes, Jaderson Costa da Costa, and Maria Valeriana Moura Ribeiro, Porto Alegre and Campinas, Brazil The maturational changes in EEG patterns during sleep in preterm and term newborns (NB) have been described by many
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170. CORRELATION OF MRI WITH CLINICAL FEATURES IN ADRENOLEUKODYSTROPHY Ki-Joong Kim, Jee-Suk Yu, Yong-Seung Hwang, and InOne Kim, Seoul, Korea Seven male patients with X-linked adrenoleukodystrophy, age of onset 5-13 years, were reviewed. The initial clinical manifestations were as follows: behavioral change in 4, visual disturbance in 3, skin pigmentation in 2, poor school performance in 2, and gait disturbance in 1. All 3 with dark pigmentation of skin had elevated plasma ACTH level and low serum cortisol concentration not increased by ACTH stimulation. CSF features included elevated albumin, IgG, and IgG index in 4. Of the 6 plasma very long chain fatty acid analyses performed, all demonstrated increased C26:0 level and C26:0/C22:0 ratio. Cranial MRI revealed typical bilaterally symmetric hyperintensity on T 2weighted images in the periventricular white matter of parietooccipital areas in 5. The other 2 had frontal or multifocal patchy involvement. All 5 who manifested visual disturbance or blindness, had involvement of the periventricular white matter of parieto-occipital areas. Of the 4 who manifested motor disturbance, including gait disturbance or quadriparesis, 3 had involvement of the internal capsule or corticospinal tract. Of the 4 who presented cognitive dysfunction or behavioral abnormality, 2 manifested frontal involvement. Involved locations on brain MRI findings were quite well correlated with the neurological manifestations.
171. CORRELATION OF MRI FINDINGS WITH CLINICAL FEATURES IN LISSENCEPHALY S o o - A h n Chae, T a e - S u n g Ko, K i - J o o n g Kim, YongSeung Hwang, Shi-Kyung Lee, and In-One Kim, Seoul, Korea We analyzed anatomic details in 15 patients with lissencephaly and correlated these findings with clinical manifestations. MRI findings were graded by the number of gyri anterior to the sylvian fissure at the level of the frontal horns on axial image as mild (>4), moderate (3-4), or severe (<3). All 7 patients with mild lissencephaly had appropriate myelination. The distribution of the pachygyric areas were as follows: frontal in 4, parietal in 3, occipital in 2, and temporal in 1. One patient had whole pachygyria and 1 had parietal agyria. The additional findings included colpocephaly and hypoplasia of the cerebellar vermis in 1 patient each. Two patients had heterotopia. Hypogenetic corpus callosum and brain atrophy each occurred in individual patients. Of the 6 patients with moderate lissencephaly, 4 had appropriate myelination. Five patients had whole pachygyria and
1 frontal pachygyria. Two patients had polymicrogyria, on the occipital and parietal regions, respectively. The other findings included colpocephaly in 5, hypoplasia of the cerebellar vermis in 1, agenesis of the corpus callosum in 2, brain atrophy in 2, and heterotopia in 1. Of the 2 patients with severe lissencephaly, 1 had appropriate myelination, and all exhibited agyria. All patients had colpocephaly and agenesis of the corpus callosum. Hypoplasia of the cerebellar vermis and brain atrophy were found in 1 respectively. The patients with mild lissencephaly demonstrated neurologic features as follows: microcephaly in 5, developmental delay in 6, mental retardation in 4, growth deficiency in 1, seizures in 3, and hypotonia in 1. Of the patients with moderate lissencephaly 4 had microcephaly, 6 developmental delay, 2 mental retardation, 1 growth deficiency, 5 seizures, and 2 spasticity. Two patients with severe lissencephaly had developmental delay with dysmorphism and 1 had microcephaly. The severity of the lissencephaly seems to be correlated with neurologic deficits.
172. DIVERSITY OF BRAIN IMAGING IN MELAS Tae-Sung Ko, Ki-Joong Kim, Yong-Seung Hwang, and InOne Kim, Seoul, Korea
Eight patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS), age of onset 1-9 years, were reviewed. All had multiple strokelike episodes with neurologic deficits (i.e., seizure, altered consciousness, hemiplegia, or hemiparesis). Other neurologic manifestations included muscle weakness in 6, episodic headache with vomiting in 4, aphasia or dysarthria in 4, visual disturbance in 3, heating loss in 2, and short stature in 2. All had lactic acidosis. On modified Gomori trichrome straining of the muscle biopsy specimen, 6 had typical ragged-red fibers and 2 had suspicious findings. On ultrastructural examination all demonstrated structurally abnormal mitochondria (pleoconial or megaconial type). Of the 3 mitochondrial DNA analyses performed, one had point mutation at position 3,243 in the tRNA I~u
173. POLYSOMNOGRAPHIC STUDY OF BIOELECT R I C A L M A T U R A T I O N IN P R E T E R M AND TERM NEWBORNS Magda Lahorgue Nunes, Jaderson Costa da Costa, and Maria Valeriana Moura Ribeiro, Porto Alegre and Campinas, Brazil The maturational changes in EEG patterns during sleep in preterm and term newborns (NB) have been described by many
PEDIATRIC NEUROLOGY Vol. 11 No. 2 129