Endocrine Abstracts

Background: X-linked Adrenoleukodystrophy, is a rare genetic neurodegenerative disease with an overall incidence of 1:20,000 males¹. The disease is characterised by progressive demyelination in the central and peripheral nervous system and adrenal insufficiency as a consequence of the accumulation of very long chain fatty acids [VLCFA] in the myelin of the central nervous system and the adrenal cortex. There is no known genotypic-phenotypic correlation, and the degree of elevation in the VLCFA does not correlate with the onset of adrenal insufficiency or neurologic disease^2,3,4. Clinical expression of ALD is more severe in males than in females. Specifically, most males develop adrenal insufficiency and require lifelong monitoring⁴. The risk for developing childhood cerebral ALD (CCALD) is highest between 3 and 12 years of age⁵. CCALD can be halted by treatment with hematopoietic cell transplantation (HCT), with better survival and reduced neurologic disability if performed earlier in the disease course^6,7.

Case Report: We present a 12-year-old boy with neurodivergent behavior, diagnosed with ADHD on Methylphenidate, presenting with gastroenteritis in the daycare assessment unit. On inquiry, the child had ongoing intermittent vomiting for a few years which had worsened in the recent past, along with school absenteeism. We noted early morning headaches, poor coordination, skin darkening, and possible sensory ataxia. Other neurological examinations were within normal limits. CT Brain was reported normal. However, his past blood tests revealed ongoing chronic hyponatremia [lowest 119 mEQ/l] and hyperkalemia. Synacthen test was suggestive of adrenal insufficiency, and hence steroid therapy was initiated. ALD was diagnosed based on high VLCFA. A Multidisciplinary Team was involved.

Diagnosis: X-linked ALD with Adrenal Insufficiency with possible Myeloneuropathy.

Outcome: Our patient had good symptom resolution, regained appetite, improved school attendance, and a smooth transition to pubertal onset. He continues on adrenal replacement therapy, high dose Vitamin D, N-Acetylcysteine, Resveratrol.

Conclusion: This disorder requires early diagnosis for an improved prognosis. Screening male children with primary AI for X-ALD using VLCFA panel should be considered, particularly after ruling out the most common causes. Especially when learning difficulties or recent diagnoses with hyperactivity are evident, it is fundamental to rule out cerebral demyelination.