Endocrine Abstracts

Previously asymptomatic 29-year-old Saudi male patient, presented to with a history of dizziness, abdominal pain and diarrhea for three days.

His morning 800 h serum cortisol was 6.4 μg/dl (normal: 5–25 μg/dl); plasma ACTH was 7579 pg/ml (normal: <46.00). The diagnosis of acute adrenal crisis was made which confirmed later by a defective rise in the cortisol level with ACTH stimulation test.

The patient was admitted to ICU at Medical City in Jeddah, and made a full recovery within 24 h with fluids, hydrocortisone f. Six months post-treatment, the patient presented with complaints f calf muscle pain and weakness, exacerbated by exercise. These symptoms progressively worsened and neurological assessment a spastic diplegia associated with reduced sensation to vibration, light touch and pinprick. The neuropathic pain increased and the patient developed myoclonus. He became wheelchair-bound with an indwelling urinary catheter and subsequently developed features of a dementia. The diagnosis of AMN was confirmed by raised circulating concentrations of very-long-chain fatty acids (VLCFA). Molecular genetic analysis was performed and SSCP analysis of each of the exons of the adrenoleukodystrophy (ALD) gene suggested the presence of a gene mutation at Xq28 in our patient. The treatment of our patient included a comprehensive physiotherapy program for the neurological disturbances and hormone replacement therapy for the adrenal insufficiency. Dietary restriction of VLCFA o Lorenzo’s oil were applied in our patient.

Adrenomyeloneuropathy is a rare X-linked inherited disorder of peroxisomes characterized by accumulation of very-long-chain fatty acids.

(VLCFA) in the central and peripheral nervous system, adrenal glands and testes, leading to dysfunction of these organs and systems.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.