Sagen Zac-Varghese, Adeel Ghaffar, Charlotte Hunt, Thomas Kaier, Karim Meeran
Mrs. SG, a 64 year old obese Asian lady was referred to the endocrine department for investigation of possible adrenoleukodystrophy. This was prompted following diagnosis of adrenoleukodystrophy in her son who had been wheelchair bound since the age of 21 years. She presented to the clinic on crutches and on neurological exam demonstrated a generalised myopathy with no spastic paraparesis. She had a past medical history of hypothyroidism (on replacement thyroxine), gout and gallstones.
Her family history (figure 1) suggested x-linked adrenoleukodystrophy. Six of her elder brothers had fitting and died at a young age. Her parents were unaffected and died from unrelated causes aged 74 and 65 years.
Figure 1: Family tree for Mrs. SG, patient indicated by arrow. Coloured boxes represent likely adrenoleukodystrophy.
She was investigated for adrenal insufficiency and was referred for ABCD1 gene screening. Mutations of the ABCD1 gene, characterised by accumulation of very long chain fatty acids, giving rise to adrenoleukodystrophy can present as a broad clinical spectrum and the phenotype is difficult to predict. In female carriers this usually presents with mild, late onset myopathy. Adrenal insufficiency is extremely rare, as was seen in our patient.