title: Leukodystrophy presenting as acute-onset polyradiculoneuropathy.
abstract: BACKGROUND
  Sulfatides, the most abundant glycosphingolipids, are a major component of myelin. They are degraded by the combined action of sphingolipid activator protein and arylsulfatase A. Deficiency of either of these entities causes metachromatic leukodystrophy (MLD). On the basis of age of onset, this entity is divided into late infantile, juvenile, and adult subtypes. Late infantile form, the commonest subtype, can exhibit peripheral neuropathy as the initial manifestation. The other two forms usually manifest peripheral neuropathy later in the disease course.
  
  
  METHODS
  A 1.5-year-old girl with preexisting isolated motor delay presented with acute-onset ascending flaccid quadriparesis, ptosis, and respiratory failure. Ptosis and respiratory failure responded completely to intravenous immunoglobulin, whereas quadriparesis showed minimal improvement. Nerve biopsy revealed metachromatic granules with demyelination, and serum arylsulfatase A levels were undetectable.
  
  
  CONCLUSIONS
  The severity and nature of the disease coupled with the response to immunotherapy makes this case unusual. This child may represent either an atypical presentation of MLD with coincidental response to immunotherapy or an episode of immune mediated neuropathy in an individual with already diseased nerves due to MLD.
authors.affiliation: Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Rachana
authors.initials: R
authors.lastname: Dubey
authors.affiliation: Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Biswaroop
authors.initials: B
authors.lastname: Chakrabarty
authors.affiliation: Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Electronic address: sheffaligulati@gmail.com.
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.affiliation: Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Mehar C
authors.initials: MC
authors.lastname: Sharma
authors.affiliation: Department of Pediatrics, Jawaharlal Nehru Medical College, Wardha, India.
authors.forename: Satish
authors.initials: S
authors.lastname: Deopujari
authors.affiliation: Department of Neurology, Central India Institute of Medical Sciences, Nagpur, India.
authors.forename: Neeraj
authors.initials: N
authors.lastname: Baheti
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.
authors.forename: Vani
authors.initials: V
authors.lastname: Santosh
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Gautham
authors.initials: G
authors.lastname: Pai
authors.affiliation: Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D011129:Polyradiculoneuropathy / Q000175:diagnosis
keywords: arylsulfatase A; immunotherapy; metachromatic leukodystrophy; peripheral neuropathy; sulfatides