Author

A. Saini

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Aug 2026

Clinical Profile, Electrophysiology, and Short-Term Outcomes of Pediatric-Onset Autoimmune Nodopathy-A Case Series.

BACKGROUND Autoimmune nodopathies (ANs) are characterized by antibodies targeting nodal and paranodal proteins. Among AN, antibodies targeting neurofascin 186 and/or 140 are rarely reported in children. We describe the clinical features, electrophysiology, histopathology, and treatment outcomes of three children with anti-NF186/140 AN and isolated anti-NF140 AN. METHODS Retrospective case series. RESULTS Case 1 was 13-year boy with nephrotic syndrome presented with acute onset asymmetric progressive sensorimotor polyneuropathy with anti-NF140 antibody-positive AN. Cases 2 was a 7.6-year girl with chronic progressive symmetric distal weakness, subacute worsening, and had combined anti-NF186/140 antibody-positive AN. Case 3 was a 3.5-year-old boy with chronic progressive symmetric distal dominant weakness of all four limbs and had bulbar involvement with anti-NF140 antibody-positive AN. All three children had bilateral upper limb tremors. Electrophysiology demonstrated a non-length-dependent mixed axonal and demyelinating pattern of sensorimotor polyneuropathy. Nerve biopsy revealed axonal and mild myelin loss in all three cases, with lymphocytic infiltration in case 1. Treatment included steroids, intravenous immunoglobulins, plasma exchange, cyclophosphamide, and rituximab with graded response and improvement in the Inflammatory Neuropathy Cause and Treatment (INCAT) disability scores. CONCLUSIONS This case series expands the clinical spectrum of pediatric-onset anti-NF186/140 AN and isolated anti-NF140 AN. Recognition of key clinical clues, including tremors, bulbar involvement, and subacute progression, is essential to distinguish it from chronic inflammatory demyelinating polyneuropathy and Charcot-Marie-Tooth disease to facilitate timely antibody testing and targeted therapy.

Kiran Anand, Anvitha Rallapalli, Renu Suthar et al. · Pediatric Neurology · 0 citations

Open access Aug 2026

From Metabolic Crises to Epileptic Encephalopathy: TANGO2 Deficiency Disorder due to Homozygous Multi-exon Deletion.

TANGO2 deficiency disorder is a rare, autosomal recessive, neurometabolic condition typically characterized by recurrent metabolic crises, rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. We report a 5-year-old boy with normal early development followed by fever-triggered metabolic encephalopathy from 10 months, associated with severe high anion-gap metabolic acidosis. He subsequently developed epileptic spasms with hypsarrhythmia, evolving into refractory epilepsy and profound developmental impairment. Serial neuroimaging showed early cortical diffusion restriction followed by progressive cerebral atrophy. Notably, classical features such as rhabdomyolysis, cardiac involvement, and TANGO2 spells were absent, and metabolic evaluation was largely unremarkable between episodes. Genetic analysis identified a homozygous 3.6-kb deletion involving exons 4 to 6 of the TANGO2 gene. This case highlights that TANGO2 deficiency may present predominantly as a developmental and epileptic encephalopathy phenotype and is more commonly due to multi-exon deletions rather than single-nucleotide variations as seen in other inherited metabolic disorders. Early genetic testing, including copy number analysis, is essential for diagnosis and management.

Shagun Singh, S. Paliwal, Shubham Raj et al. · Journal of Child Neurology · 0 citations