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. Diagnostic tools for MLD are- absence or low-level arylsulfatase activity in genetic screening, sulphatides in urine, and magnetic resonance image (MRI) showing frontal horns and atrial periventricular leukodystrophy. The typical finding is known as the trigonid pattern. A two and half-year-old boy was born out of marriage in near blood relation. No prenatal screening was done. As narrated by the mother, the patient was alright six months back when he gradually developed lower limb weakness. Due to this, he stopped walking, which he could initially do without support. The parent also complained that he used to speak fifteen to twenty words, and now he is not saying a single word. With the above complaint, the patient was taken to the local hospital, where an MRI showed periventricular leukodystrophy, suggesting metachromatic leukodystrophy of periventricular white matter. The practice of prenatal and newborn genetic screening could enhance the efficacy of management, as early interventions are more effective.
Keywords: autosomal recessive; gait disturbances; genetic screening; lipid disorders; mental retardation; white matter.
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