Affiliations: Department of Pediatrics, Postgraduate Institute of
medical Education and Research and Dr. Ram Manohar Lohiya Hospital, New Delhi,
India | Department of Obstetrics and Gynecology, Lady Hardinge
Medical College, New Delhi, India
Note: [] Correspondence: Dr. Sandeep Choudhary, Doctor' Hostel, Room
No-208, Dr. Ram Manohar Lohiya Hospital, New Delhi, India. Tel.: +91
9414416405; Fax: +91 1123361228; E-mail: [email protected]
Abstract: Metachromatic leukodystrophy (MLD) is a progressive white matter
disease caused by arylsulfatase A deficiency. Demyelination in the nervous
system is detected by cerebral magnetic resonance imaging and
neurophysiological studies. We present here a child with late infantile MLD,
who had initially difficulties in standing and walking with generalized
dystonia and clubfoot and later on became unable to stand and sit even with
support. Protein levels in cerebral spinal fluid were elevated and nerve
conduction studies revealed slowing down of motor and sensory nerve conduction
velocity. Initial cerebral computerized tomography scan showed hypo dense
lesion in bilateral globus pallidus. Magnetic resonance imaging was done
subsequently that showed diffuse white matter signal changes. Enzyme assay for
arylsulfatase A further confirmed the diagnosis of MLD. We conclude that in
young children extrapyramidal symptomatology and demyelinating sensorimotor
polyneuropathy may be a presenting feature of the onset of MLD.
Keywords: Metachromatic leukodystrophy, arylsulfatase A, neurodegenerative disorder
