Ae Suk Kim

A Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis

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.

Cytomegalovirus-associated esophageal ulcer in an immunocompetent infant: When should ganciclovir be administered?

Cytomegalovirus (CMV)-associated esophageal ulcer is rare in immunocompetent infants. The presence of inclusion bodies and immunohistochemical staining for CMV in biopsy specimens obtained during esophagogastroduodenoscopy (EGD) indicate that such ulcers occur because of CMV infection. A 7-week-old female infant who experienced frequent vomiting and feeding intolerance was diagnosed with a massive CMV-associated ulcer in the distal esophagus. The ulcer improved after conservative treatment using proton-pump inhibitors; however, ganciclovir was not administered. In a follow-up EGD biopsy specimen, no CMV inclusion bodies were present, and immunohistochemical staining results for this virus were negative. The presence of CMV inclusion bodies indicates active viral replication. If persistent inclusion bodies or positive immunohistochemical staining for CMV is observed in follow-up biopsy specimens, ganciclovir may be used to treat CMV-associated esophageal ulcers.

Balloon-occluded Retrograde Transvenous Obliteration Treats Hepatic Dysfunction and Gastric Varices

JPGN Volume 52, N T he survival rate of patients with biliary atresia has been increasing since the introduction of Kasai (hepatic) portoenterostomy (1); however, because it is an auxiliary treatment unable to solve the progressive cholangiopathy, mortality and rates of complications, such as variceal bleeding, remain high. Miscellaneous modalities including endoscopy, intervention, and surgery have been introduced to treat variceal bleeding. Balloon-occluded retrograde transvenous obliteration (B-RTO) is now widely performed to treat gastric varices, and several reports have described the effectiveness of B-RTO in adults (2). Moreover, the hemodynamic alternations after B-RTO may improve hepatic function by resolving the problem of hepatic insufficiency (3). Children with biliary atresia have less severe hepatic dysfunction than adults with end-stage liver disease and are thus likely to show a better result, after B-RTO. However, there is no case report on the correlation between hepatic function and B-RTO in children. We report a case of successfully performed B-RTO in a 9-year-old girl with gastric variceal bleeding after a Kasai operation and its positive influence on hepatic function.