# A Rare Case of Refractory Epilepsy Associated With Brain Calcifications and Mucocutaneous Candidiasis

## TL;DR

A 23-year-old woman with rare immune disorder showed brain calcifications and epilepsy, and was diagnosed with APS-1.

## Contribution

This case report highlights a rare presentation of APS-1 with refractory epilepsy and brain calcifications.

## Key findings

- The patient exhibited classic signs of APS-1 including mucocutaneous candidiasis and hypoparathyroidism.
- Brain imaging revealed pathological calcification of the basal ganglia.
- The patient responded well to treatment following APS-1 diagnostic criteria.

## Abstract

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare and complex primary immunodeficiency disorder. The classic clinical triad of APS-1 includes chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Clinically, APS-1 presents with significant variability and is characterized by autoimmune dysfunction affecting both endocrine organs (including the parathyroids, adrenal glands, thyroid, gonads, and pituitary) as well as non-endocrine tissues (such as the skin, liver, kidneys, lungs, eyes, and intestines).

Here we present a 23-year-old female with a history of abnormal body movement associated with posturing and transient loss of consciousness, along with a history of recurrent oral ulceration, itchy patches over intertriginous areas, and pigmentation of skin. Her examination was suggestive of low blood pressure, oral and cutaneous candidiasis, and hyperpigmentation of the skin. Routine investigations showed very low serum calcium, low parathyroid hormone (PTH) levels, and low early morning cortisol levels, and pathological calcification of the basal ganglia was noted on CT brain. As the patient met the diagnostic criteria of APS-1, she was treated accordingly and responded well.