Idiopathic Addison's Disease Caused By Adrenomyeloneuropathy

Presentation Number: SUN 362
Date of Presentation: April 2nd, 2017

Faiza Abdulaziz Qari*
King Abdulaiz Unversity, Jeddah, Saudi Arabia

Abstract

Background :- X-Linked adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the central nervous system, adrenal insufficiency, and accumulation of very long chain fatty acids in tissue and body fluids. ALD is due to mutation of a gene located in Xq28 that encodes a peroxisomal transporter protein of unknown function

 Case :- 

A 31-year-old previously asymptomatic man presented to emergency room with a 6-day history of sore throat and 3 days of abdominal pain. He was acutely unwell with a Glasgow Coma Score of 7/15, central cyanosis and un recordable blood pressure.

Initial investigations at emergency room revealed :-

WBC =34.4 × 109/L , Na 120mmol/L, creatinine 314 μmol/L , K was 4.5 mmol/L , glucose 6.3 mmol/L and low level of serum cortisol 229mmol/L

 He was admitted to the ICU with diagnosis of Acute Adrenal Crisis precipitated by upper respiratory tract infection. He had a full recovery within 24 hours management with Intravenous fluids , methyllpredinsone and antibiotics.

The diagnosis of adrenal insufficiency was confirmed later by Short synacthen test

The baseline cortisol of 17 nmol/L and the serum Cortisol at 30 min and 60 minute after synnsthatic ACTH were 30 nmol/L.

CT abdomen showed atrophied of bilateral adrenal glands and no calcification , however adrenocortical antibodies were absent.

In the following six months , patient complained of calf muscle pain and weakness, symptoms which were exacerbated by exercise. This progressively worsened and neurological assessment identified a spastic diplegia associated with reduced sensation to vibration, light touch and pinprick. The neuropathic pain increased and he developed myoclonus .He was wheelchair bound with an indwelling urinary catheter in . Subsequently he has developed features of a dementia of frontal lobe type in one year time .

MRI result in six months later from acute presentation showed incipient demyelination predominantly in left hemisphere with relatively spared U fibres. MRI after 12 months later confluent hyperintensive lesion representing severe demyelination.

The workup to make up the final diagnosis showed :-

  • Serological tests for syphilis and borelia were negative. 
  • Serum folate and B12 levels were normal. 
  • Cerebrospinal fluid showed no oligoclonal bands and 
  • magnetic resonance imaging of spine was normal. 
  • Nerve conduction studies revealed a demyelinating motor neuropathy. 

The final diagnosis was Adult-Onset Adrenomyeloneuropathy , which was proved by raised circulating concentrations of very long chain fatty acids (VLCFA ) and gene study showed Gene Mutation to X-q28.

Conclusion :- ALD is one of rare cause of idiopathic Addison's disease in adults.

 

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