An unusual presentation of X-linked adrenoleukodystrophy

[摘要] X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result inaccumulation of very long chain fatty acids (VLCFAs) in various tissues. This leads to demyelination in the CNS and impairedsteroidogenesis in the adrenal cortex and testes. A 57-year-old gentleman was referred for the assessment of bilateralgynaecomastia of 6 months duration. He had skin hyperpigmentation since 4 years of age and spastic paraparesis for the past15 years. Physical examination findings included generalised hyperpigmentation (including skin, buccal mucosa and palmarcreases), blood pressure of 90/60 mmHg, non-tender gynaecomastia and bilateral hypoplastic testes. Lower limb findingswere those of a profoundly ataxic gait associated with significant paraparesis and sensory loss. Primary adrenal insufficiencywas confirmed and investigations for gynaecomastia revealed normal testosterone with mildly elevated luteinising hormonelevel and normal prolactin. The combination of primary adrenal insufficiency (likely childhood onset), partial testicularfailure (leading to gynaecomastia) and spastic paraparesis suggested X-ALD as a unifying diagnosis. A serum VLCFA panelwas consistent with X-ALD. Subsequent genetic testing confirmed the diagnosis. Treatment with replacement doses ofcorticosteroid resulted in improvement in blood pressure and increased energy levels. We have reported the case of a57-year-old man with a very late diagnosis of X-ALD manifested by childhood onset of primary adrenal insufficiency followedby paraparesis and primary hypogonadism in adulthood. Thus, X-ALD should be considered as a possibility in a patient withnon-autoimmune primary adrenal insufficiency and neurological abnormalities.

[学科分类] 血液学

[关键词] Adult;Male;Asian - Chinese;Australia;Parathyroid;Skin;Testes;Adrenal;Andrology;Genetics and mutation;Neuroendocrinology;Paediatric endocrinology;LH;ACTH;Cortisol;TSH;Prolactin;Renin;FSH;Aldosterone;Adrenoleukodystrophy;Adrenal insufficiency;Gynaecomastia;Hypogonadism;Paralysis;Spastic paraplegia;Spasticity;Hyperpigmentation;Gynaecomastia;Hypogonadism;Urinary frequency;Gait abnormality;Hypoadrenalism;Paraesthesia;Hypotension;Libido reduction/loss;Ataxia;Babinski's sign;PTH;ACTH;Cortisol;Sex hormone binding globulin;LH;Genetic analysis;TSH;Prolactin;FSH;Hydrocortisone;Glucocorticoids;Dermatology;Genetics;Neurology;Paediatrics;Unique/unexpected symptoms or presentations of a disease;November;2015