Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis

Abstract

Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, that affects 1 in 20 000 people. In X linked adrenoleukodystrophy (X-ALD), a defect in lignoceroyl-coenzyme A ligase causes pathognomonic tissue accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex and nervous system. The phenotypic variability ranges from cerebral inflammatory demyelination of childhood onset, leading to death within 5 years, to adults remaining presymptomatic through more than five decades. Our case is that of a man who was previously diagnosed with bipolar affective disorder presented with dystonic posturing. During transit, he had an episode of generalised convulsive status epilepticus. He presented with spasticity and exaggerated reflexes. Three important signs of adrenal insufficiency were observed: hypotension, hyperpigmentation and comatose state. The diagnosis of X-ALD should be considered in young men presenting with gradually progressive unexplained cognitive and behavioural problems, a strong family history, adrenal insufficiency, bilateral upper motor signs with absent ankle reflexes.

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

“…76,77 These non-specific symptoms can be difficult to distinguish from primary psychiatric disorders such as bipolar disorder or schizophrenia. 77,78 As the disease progresses, psychiatric symptoms increase in severity. Patients may experience depression, character/ personality disturbances, mania (disinhibition, emotional lability, increased spending, hypersexuality, loudness, and perseveration), obsessive-compulsive features, and psychosis (e.g., visual hallucinations).…”

“…Psychiatric disturbance is a prominent concern among men with ACALD, with a review of 34 case reports revealing that psychiatric symptomatology was described in 56% of patients 75 . Symptoms such as emotional lability, agitation, aggression, and irritability may emerge as initial clinical signs, and are sometimes present for years before demyelinating disease is detected 76,77 . These non‐specific symptoms can be difficult to distinguish from primary psychiatric disorders such as bipolar disorder or schizophrenia 77,78 .…”

“…75 Symptoms such as emotional lability, agitation, aggression, and irritability may emerge as initial clinical signs, and are sometimes present for years before demyelinating disease is detected. 76,77 These non-specific symptoms can be difficult to distinguish from primary psychiatric disorders such as bipolar disorder or schizophrenia. 77,78 As the disease progresses, psychiatric symptoms increase in severity.…”