• Investigative Magnetic Resonance Imaging
• /
• 제25권2호
• /
• pp.101-108
• /
• 2021

Purpose: To identify characteristic magnetic resonance imaging (MRI) features to differentiate between Krabbe disease and metachromatic leukodystrophy (MLD) in young children. Materials and Methods: We collected all confirmed cases of Krabbe disease and MLD between October 2004 and September 2020 at Seoul National University Children's Hospital. Patients with initial MRI available were included. Their initial MRIs were retrospectively reviewed for the following: 1) presence of white matter signal abnormality involving the periventricular and deep white matter, subcortical white matter, internal capsule, brainstem, and cerebellum; 2) presence of volume decrease and signal alteration in the corpus callosum and thalamus; 3) presence of the tigroid sign; 4) presence of optic nerve hypertrophy; and 5) presence of enhancement or diffusion restriction. Results: Eleven children with Krabbe disease and 12 children with MLD were included in this study. There was no significant difference in age or symptoms at onset. Periventricular and deep white matter signal alterations sparing the subcortical white matter were present in almost all patients of the two groups. More patients with Krabbe disease had T2 hyperintensities in the internal capsule and brainstem than patients with MLDs. In contrast, more patients with MLD had T2 hyperintensities in the splenium and genu of the corpus callosum. No patient with Krabbe disease showed T2 hyperintensity in the corpus callosal genu. A decrease in volume in the corpus callosum and thalamus was more frequently observed in patients with Krabbe disease than in those with MLD. Other MRI findings including the tigroid sign and optic nerve hypertrophy were not significantly different between the two groups. Conclusion: Signal abnormalities in the internal capsule and brainstem, decreased thalamic volume, decreased splenial volume accompanied by signal changes, and absence of signal changes in the callosal genu portion were MRI findings suggestive of Krabbe disease rather than MLD based on initial MRI. Other MRI findings such as the tigroid sign could not help differentiate between these two diseases.

• 대한유전성대사질환학회지
• /
• 제3권1호
• /
• pp.38-44
• /
• 2003

• 대한장애인치과학회지
• /
• 제12권2호
• /
• pp.96-100
• /
• 2016

저자는 후기 영아형 이염성 백질 이영양증으로 인해 신경학적인 퇴행이 관찰되고 섭식 장애로 인한 다발성 우식을 보이는 환아를 전신마취 하 치료하였기에 문헌 고찰과 함께 보고하는 바이다. 저작기능 장애로 인한 영양 결핍으로 환아는 신체 발육이 매우 저하되었으며 긴 식사 시간으로 다발성 치아 우식에 이환된 상태였다. 협조도 부족 및 치료 범위 등을 고려하여 전신마취 하에 치과 치료를 시행하였고 정기적인 검진을 시행 중이다. 진행성, 신경성 퇴행질환의 특징을 이해하고 환아의 상태를 고려한 구강 건강 관리 및 보호자 교육을 제공하는 것이 필요할 것으로 사료된다.

• Annals of Clinical Neurophysiology
• /
• 제8권1호
• /
• pp.36-39
• /
• 2006

Background: Floppy infant syndrome has a number of different etiologies. Methods: One hundred twenty-three consecutive patients of floppy infant syndrome were included in this study. We reviewed all the electrophysiologic tests of these patients and the medical record of patients showing abnormalities in the electrophysiologic studies. Results: Of the 123 patients, twenty-six (21.1%) showed definite abnormalities in electrophysiologic tests; 8 myopathies, 14 neuropathies and 4 unclassified. The neuropathy was further classified as 5 neuronopathies and 9 sensorimotor polyneuropathies. With muscle or sural nerve biopsy and genetic test, a final diagnosis was made of Duchenne muscular dystrophy in 4, Becker muscular dystrophy in 1, spinal muscular atrophy in 2, and metachromatic leukodystrophy in 1. Conclusions: About 21% of patients presented with floppy infant syndrome showed abnormalities in the neuromuscular system. The electrophysiologic test is valuable to guide further investigations in diagnosing the cause of floppy infant syndrome.