Metachromatic leukodystrophy (MLD) is the typical white matter disease belonging to the lysosomal sphingolipid storage group and is a genetic autosomal recessive disorder. Early presentation is in the form of learning disability and behavioral issues; the subsequent involvement is gait and balance. Prenatal blood testing for genetic screening is available for arylsulfatase A (ARSA) deficiency is indicated if the family history is positive for MLD.
View Article and Find Full Text PDFSitus inversus is a scarce congenital anomaly. Situs inversus totalis (SIT) is a mirroring of the normal. Thoracic and abdominal viscera transposition is a characteristic feature of situs inversus.
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