Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy

Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?—Reply

“…In Reply We thank Politi et al for their interest in our article . Politi and colleagues point out that it is confounding to emphasize metachromatic leukodystrophy (MLD) in the differential diagnosis because it could have been ruled out much sooner from the brain magnetic resonance imaging (MRI) and the level of arylsulfatase A (ARSA) activity.…”

“…Singh et al described a patient with late-infantile MLD without white matter involvement on brain MRI. In our case report, the serial brain MRI scans show a spreading from occipital white matter lesions to confluent white matter lesions in the bilateral centrum semiovale and periventricular areas. Although it is not typical for patients with adult MLD, we think that the diagnosis of MLD cannot be excluded, considering the heterogeneity of imaging manifestations in patients with MLD.…”

“…In addition, Lorioli et al have described a presymptomatic patient with MLD with an ARSA activity equal to 50% of normal values, which is similar to a carrier in this family. Therefore, we still advised the patient in our case report (a Chinese patient) to undergo an ARSA gene test although his ARSA activity was half of the normal lower limit.…”

Metachromatic Leukodystrophy

“…To the Editor Recently, Wu et al reported the case of an adult patient with late-onset cobalamin C disease who received an incorrect diagnosis of adult metachromatic leukodystrophy (MLD). In this patient, the disease onset was characterized by acute psychiatric symptoms and spastic paraparesis.…”