# Acute Transverse Myelitis in a Patient With Type 2 Loeys-Dietz Syndrome: A Report of a Rare Case From India

## TL;DR

This paper reports a rare case of a 17-year-old boy in India with Loeys-Dietz syndrome who developed acute transverse myelitis, highlighting the importance of genetic confirmation for accurate diagnosis.

## Contribution

The novelty lies in documenting a rare neurological complication in a patient with genetically confirmed Loeys-Dietz syndrome.

## Key findings

- The patient presented with acute sensorimotor paraparesis and was genetically confirmed to have Loeys-Dietz syndrome.
- The case highlights the variability of clinical features in Loeys-Dietz syndrome and the importance of genetic testing for accurate diagnosis.
- A multidisciplinary approach is crucial for managing Loeys-Dietz syndrome to improve life expectancy and quality of life.

## Abstract

Loeys-Dietz syndrome (LDS) is a very rare connective tissue disorder with autosomal dominant inheritance, characterized by the involvement of the cardiovascular, musculoskeletal, and cutaneous systems, along with dysmorphic facial features. Currently, there are limited data regarding this disease. This case presents a clinical observation of a 17-year-old boy with acute onset of sensorimotor paraparesis and genetically confirmed LDS. The predominant symptoms of LDS include arterial aneurysms, arterial tortuosity, hypertelorism, and bifid uvula. However, this constellation of symptoms is not found in all patients with the disease. Genetic confirmation is essential for an accurate diagnosis. The prognosis for LDS differs from its mimics, such as Marfan syndrome, Beals syndrome, Ehlers-Danlos syndrome, and Shprintzen-Goldberg syndrome. Management of the disease warrants a multidisciplinary approach to address its various manifestations. Such an approach can help increase the life expectancy and improve the quality of life for these patients.