PulseTrendingJournal ClubResearchersJournalsExplore
Instagram
HomeTrendingJournal ClubExplore
Synapse
⌘+K
Synapse
February 8, 2026Annals of Indian Academy of NeurologyOpen Access

Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease

View Full Paper
Ask AI
Bookmark
Share

Population

One 45-year-old man with acute lower motor neuron-type quadriparesis and hypokalemia

Design

Case report

Follow-up

2 years

Key result

Potassium supplementation and acetazolamide effectively prevented recurrence of adult-onset Andersen–Tawil syndrome with no cardiac or dysmorphic features over 2 years.

Authors

HSHimanshu ShakyaSBShivangi BhatnagarPBPratik Pravin Babel

Discussion

Loading...

Member takes

Overview

Expands ATS spectrum to adult-onset cases without cardiac or dysmorphic features; leaves open treatment generalizability pending confirmatory studies.

Key Points

  • This report aims to describe a unique adult-onset presentation of Andersen-Tawil syndrome without typical features.
  • Documented clinical history of the patient, including symptom onset and triggers.
  • Conducted biochemical evaluation revealing hypokalemia.
  • Performed genetic testing for KCNJ2 gene mutations.
  • Administered treatments including potassium supplementation and acetazolamide.
  • The patient experienced acute lower motor neuron-type quadriparesis with no cardiac symptoms or dysmorphic features.
  • Genetic testing confirmed a heterozygous nonsense mutation in the KCNJ2 gene.
  • The patient had no recurrence of symptoms over 2 years after treatment.

Structured PICO

P
Population
1 45-year-old man presenting with acute lower motor neuron-type quadriparesis, hypokalemia, and a heterozygous nonsense mutation in the KCNJ2 gene (c.13C>T, p.Arg5Ter), without cardiac symptoms, dysmorphic features, or relevant family history.
I
Intervention
Potassium supplementation and later acetazolamide
O
Outcome
Recurrence of quadriparesis episodes

This case demonstrates a rare adult-onset presentation of Andersen-Tawil syndrome lacking typical cardiac or dysmorphic features, successfully managed with potassium and acetazolamide.

Cite This Study

Shakya et al. (2025) studied this question. Potassium supplementation and acetazolamide effectively prevented recurrence of adult-onset Andersen–Tawil syndrome with no cardiac or dysmorphic features over 2 years.

synapsesocial.com/papers/698828330fc35cd7a8847885https://doi.org/10.4103/aian.aian_498_25
View Full Paper
Ask AI
Bookmark
Share