Endocrine Abstracts

JOINT1581

X-linked adrenoleukodystrophy (X-ALD) is a rare, genetically determined metabolic disease with strong clinical heterogeneity. It affects approximately 1/20,000 Caucasian men. Adrenomyeloneuropathy (AMN) is a variant type of X-ALD that usually occurs in adult males and primarily affects the spinal cord, often presenting as progressive spastic paralysis. We present the case of a 43-year-old man, with no family history, diagnosed in adolescence with primary adrenal insufficiency and treated with Prednisone for a relatively short duration of time (six years). Years later, he was presented to the emergency room with nausea and intractable vomiting. Upon examination, his blood pressure was 90/54 mmHg, heart rate 100 beats/min, weight 40 kg, height 165 cm. He had dry mucous membranes and hyperpigmented skin. The neurological examination was unremarkable. Cardiopulmonary examination showed no abnormalities; the abdomen was without alterations; the meningeal tests were negative. Further testing revealed hyponatremia 130 mM/l (135-145), hyperkalemia 5.6 mM/l (3.6-5.5), while routine blood tests for liver function, kidney function, lipids, blood glucose, CRP, urine, and stool routine tests demonstrated no significant abnormalities. Normal thyroid function, baseline cortisol 12 µg/dl (5-25), baseline adrenocorticotropin >2.000 pg/ml (7.2–63.4), renin >630 µUI/ml (2.8-39.9), total testosterone was 2.6 nM/l (4.16-35.36), luteinizing hormone 24.9 UI/l (2.6-6.8), follicle-stimulating hormone 9.79 UI/l (1.5-19.4). After the diagnosis of primary adrenal insufficiency, he started treatment with corticosteroids and mineralocorticoids. Three months later, he presented with rapid, severe neurological deterioration, including apathy, dysarthria, spastic paraplegia, extensive muscle atrophy, urinary, and fecal incontinence. A brain MRI scan revealed active demyelination, high bilateral symmetrical signal intensity of the white matter in T2 and Flair within the corpus callosum, corticospinal tracts at the level of the brainstem, and middle cerebellar peduncles. Spectrographic recordings showed neuronal destruction. No cervical medullary atrophy on MRI imaging of the cervical cord. Additional laboratory findings: Hepatitis B, syphilis, Borelli, and HIV tests were all negative. The determination of very long-chain fatty acids showed a high level in serum. Molecular analysis of the ABCD1 gene reported hemizygous missense pathogenic mutation c.1252C>T, p.(Arg418Trp). After the diagnosis of AMN, he continued with supplementation for his adrenal insufficiency, developed sepsis two months later due to a urinary infection, and died due to complications. This case underscores the importance of considering AMN in patients with primary adrenal insufficiency, particularly when there is neurological decline. Early identification in such cases could facilitate timely interventions that may prevent or delay disease progression.