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Menon et al. Neuroimmunol Neuroinflammation 2016;3:219-24 Neuroimmunology and
DOI: 10.20517/2347-8659.2016.02
Neuroinflammation

www.nnjournal.net
Case Report Open Access

The expanding spectrum of pediatric anti-

glutamic acid decarboxylase antibody

mediated CNS disease - a chance

association?

Deepak Menon , Ramshekhar N. Menon , Hardeep Kumar , Ashalatha Radhakrishnan , Sudheeran Kannoth ,
2
1
1
1
1
Muralidharan Nair , Sanjeev Thomas 1
1
1 Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695011, Kerala, India.
2 Department of Neuro-immunology, Amrita Institute of Medical Sciences, Ponnekkara, Kochi 682041, Kerala, India.
Correspondence to: Dr. Ramshekhar N. Menon, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology,
Trivandrum 695011, Kerala, India. E-mail: rsnmenon@sctimst.ac.in
How to cite this article: Menon D, Menon RN, Kumar H, Radhakrishnan A, Kannoth S, Nair M, Thomas S. The expanding spectrum of pediatric
anti-glutamic acid decarboxylase antibody mediated CNS disease - a chance association? Neuroimmunol Neuroinflammation 2016;3:219-24.
ABSTRACT
Article history: Central nervous system autoimmunity in the pediatric age group represents an evolving
Received: 05-01-2016 constellation of various syndromes distinct from the adult age group. One of the rarely
Accepted: 28-05-2016 described pathogenic auto-antibodies (ab) is the one directed against glutamic acid
Published: 28-09-2016 decarboxylase (GAD). While its pathogenic role is controversial, literature concerning
adult patients abounds with heterogeneous presentations with epilepsy often as part of
Key words: limbic encephalitis or chronic temporal lobe epilepsy and cerebellar ataxia accompanying
Autoimmunity, endocrinopathies or paraneoplastic disorders. Diagnosis is often delayed until late
anti-glutamic acid decarboxylase adulthood. The authors report hitherto under-reported syndromes in the pediatric age group.
antibody, The first case was a 3-year-old boy with sub-acute myoclonus-ataxia following a flu-like
myoclonus-ataxia, illness akin to para-infectious cerebellitis. The second case was a 7-year-old girl with long-
epilepsy standing chronic extratemporal partial epilepsy and electrical status epilepticus in sleep
(ESES) with right hemiparesis and developmental delay. Investigations revealed two-four
fold elevations in titres of GAD-65-ab. The absence of systemic diseases like diabetes and
the dramatic clinical response to steroids as well as intravenous immunoglobulin in both
the cases argued for GAD-ab mediated neuronal injury rather than a chance association.
The concern exists regarding other potentially co-existent auto-ab to gamma-amino
butyric acid and glycine receptors, and demonstration of intrathecal synthesis of GAD-
ab would be ideal. This entity should be contemplated in children presenting with acute/
sub-acute onset episodic or progressive ataxia or refractory cryptogenic focal epilepsy
syndromes, epileptic encephalopathy such as ESES and worsening neurological deficits.
These children ought to be maintained on regular follow-up for monitoring evolution of
other autoimmune disorders in adult life.
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