Author

A. Saini

3 papers indexed here

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Case report Open access Sep 2026

Case Report: When metabolism meets malabsorption: Imerslund-Gräsbeck syndrome with coexisting propionic acidemia presenting as recurrent metabolic crises

This case represents an exceptionally rare coexistence of propionic acidemia and Imerslund–Gräsbeck syndrome and highlights the importance of considering dual pathology in children with atypical clinical or biochemical features and the value of comprehensive genetic evaluation in complex neurometabolic disorders.

Anvitha Rallapalli, Shubham Raj, S. Paliwal et al. · Frontiers in Nutrition · 0 citations

Aug 2026

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

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.

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 developed epileptic spasms with hypsarrhythmia, evolving into refractory epilepsy and profound developmental impairment.

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