Young Male with Addison’s Disease and Progressive Lower Extremity Weakness

Presentation Number: SUN 374
Date of Presentation: April 2nd, 2017

Rajini Kanth Reddy Yatavelli*1, Sanjeda Sultana2 and David Eyring Scarborough1
1LSU Health Shreveport, Shreveport, LA, 2Louisiana State University Health Sciences Center, Shreveport, LA

Abstract

Young Male with Addison’s Disease and Progressive Lower Extremity Weakness

Rajini Kanth Yatavelli, Sanjeda Sultana, David E Scarborough

Section of Endocrinology, LSU Health-SHV, Shreveport, LA, USA

Background:Adrenoleukodystrophy (ALD) is a heritable disorder of peroxisomal fatty acid oxidation with variable phenotypes including adrenomyeloneuropathy (AMN), cerebral dysfunction, Addison’s disease (AD) and testicular dysfunction.

Clinical Case: At age 22, five years PTA at our hospital, the patient was seen at an affiliated hospital for a seizure. CT scan of the brain revealed absence of the posterior corpus callosum and associated colpocephaly. Two years PTA he was seen again for nausea, vomiting, abdominal pain and was noted to have hypotension, hyperkalemia and hyponatremia, Na 115 mmol/l (135-146), a morning cortisol of 2.2 ug/dL (6.2-19.4), ACTH >2000 pg/mL (7.2-63.3), renin 45.03 ng/mL (0.15-2.33), aldosterone 1.7 ng/dL (0.0-30.0). CT abdomen showed an atretic left adrenal gland with no demonstrable right adrenal gland. His family and medical history were vague, with the patient and his caregiver reporting childhood abuse and serial foster care, regular school classes through 10thgrade, PTSD, and frequent falls with unsteady gait. At discharge he was diagnosed with AD, anti-adrenal antibodies were not done, GC and MC replacement were begun. Within 3 months he developed further weakness and a gradual neurological decline ensued with urinary and fecal incontinence and lower extremity paresis. CT and MRI spine were unhelpful.

Six months PTA his paresis led to decubitus ulcers and osteomyelitis, culminating in adrenal crisis requiring admission to our hospital where he underwent a left below the knee amputation and multiple wound care procedures. Screens for HIV, syphilis, and TB were negative. Very Long Chain Fatty Acid testing showed elevated levels of C26:0 = 1.020 (normal 0.23 + or - 0.09), C24:22 ratio = 1.421 (normal 0.84 + or - 0.10), C26:22 ratio = 0.074 (normal 0.010 + or 0.004); results consistent with a defect in peroxisomal fatty acid oxidation such as X-linked ALD or AMN.

Conclusions: This patient’s overall picture was most consistent with AD due to AMN. AMN and ALD are associated with inflammatory demyelination that can lead to a variety of CNS pathologies. Currently AD is most commonly due to an autoimmune etiology, but this should be confirmed with anti-adrenal antibody testing, since AMN and ALD may account for as much as 10% of primary AD and are anti-adrenal antibody negative. This patient had AD with CNS findings and imaging suggestive of AMN/ALD that were not directly addressed prior to his morbid and life-threatening deterioration. Clinicians should remain alert to this association of CNS pathology and AD.

 

Nothing to Disclose: RKRY, SS, DES