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A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.

Lee JM, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, Kim DK, Ki CS, Kim JW - J. Korean Med. Sci. (2006)

Bottom Line: Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade.Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI.Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Dongguk University College of Medicine, Gyeongju, Korea.

ABSTRACT
Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade. Its characteristic magnetic resonance imaging (MRI) findings have been described as demyelination predominantly in the frontal lobe. Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. The disease can now be detected by genetic diagnosis. We report the Korean case of an 8-month-old male patient with AD. He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI. Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine.

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Related in: MedlinePlus

General appearance (A) and traction response (B) of the patient at the age of 8 months on admission are compared with (C) and (D) at the age of 20 months.
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Figure 1: General appearance (A) and traction response (B) of the patient at the age of 8 months on admission are compared with (C) and (D) at the age of 20 months.

Mentions: An 8-month-old boy (Fig. 1A, B) was admitted to our emergency room because of repeated seizures. A seizure had occurred a day prior to this presentation. It persisted for 30 min, and his parents observed upward eyeball fixation and tonicclonic movement of the extremities. However, treatment was not sought at the time. At his home on the day of this hospitalization, a seizure redeveloped, persisted for about an hour and then spontaneously stopped. Several hours later the third seizure occurred and did not stop. His parents then brought the patient to our emergency room where the seizure was observed by doctors. Pupils were fixed without deviation with nictitating of eyelids, lip smacking, and stiffness of the right extremities. The seizure stopped after a diazepam injection. Subsequently, seizures were controlled by valproic acid administration.


A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.

Lee JM, Kim AS, Lee SJ, Cho SM, Lee DS, Choi SM, Kim DK, Ki CS, Kim JW - J. Korean Med. Sci. (2006)

General appearance (A) and traction response (B) of the patient at the age of 8 months on admission are compared with (C) and (D) at the age of 20 months.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2722014&req=5

Figure 1: General appearance (A) and traction response (B) of the patient at the age of 8 months on admission are compared with (C) and (D) at the age of 20 months.
Mentions: An 8-month-old boy (Fig. 1A, B) was admitted to our emergency room because of repeated seizures. A seizure had occurred a day prior to this presentation. It persisted for 30 min, and his parents observed upward eyeball fixation and tonicclonic movement of the extremities. However, treatment was not sought at the time. At his home on the day of this hospitalization, a seizure redeveloped, persisted for about an hour and then spontaneously stopped. Several hours later the third seizure occurred and did not stop. His parents then brought the patient to our emergency room where the seizure was observed by doctors. Pupils were fixed without deviation with nictitating of eyelids, lip smacking, and stiffness of the right extremities. The seizure stopped after a diazepam injection. Subsequently, seizures were controlled by valproic acid administration.

Bottom Line: Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade.Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI.Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Dongguk University College of Medicine, Gyeongju, Korea.

ABSTRACT
Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade. Its characteristic magnetic resonance imaging (MRI) findings have been described as demyelination predominantly in the frontal lobe. Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. The disease can now be detected by genetic diagnosis. We report the Korean case of an 8-month-old male patient with AD. He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI. Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine.

Show MeSH
Related in: MedlinePlus