• Investigative Magnetic Resonance Imaging
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• v.25 no.2
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• pp.101-108
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• 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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.38-44
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• 2003

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.2
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• pp.96-100
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• 2016

Metachromatic leukodystrophy (MLD) is a progressive and degenerative neurological disease caused by a deficiency of the catabolic enzyme arylsulfatase A. Deficiency of arylsulfatase A results in accumulation of sulfatide in the white matter of the peripheral and central nervous system and it occurs demyelination as a result. The patient gradually goes through mental and motor failure. General symptoms of MLD include gait disturbance, mental deterioration, muscle rigidity and impaired swallowing. Inheritance of the disease is autosomal recessive. We report a dental caries treatment of a 3-year old boy with MLD. The patient underwent hematopoietic stem cell transplantation (HSCT) to slow the progression of the disease. He was suffered from difficulties of mastication and swallowing from the degenerative neurological symptom. He was ingesting food by both oral feeding and tubal feeding after he took percutaneous endoscopic gastrostomy (PEG). The cause of multiple caries was mainly presumed as patient's prolonged time of meal. The treatment was performed under general anesthesia considering patient's incompliance. Severely affected lower primary molars were treated with pulp treatment and restored with stainless steel crown. Others were restored with composite resin. There were no postoperative complications. MLD is life threatening progressive disease and also has an impact on unfavorable condition for oral health. Routine home oral care and periodic professional dental care should be emphasized to the caregiver of patient considering the susceptibility of dental caries. Not only the medical care, but periodic dental office visit would benefit the quality of life of the patient.

• Annals of Clinical Neurophysiology
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• v.8 no.1
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• pp.36-39
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• 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.