Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism

Abstract

Rationale:The respective involvements of both the thalamus and exhibitionism in cerebral X-linked adrenoleukodystrophy (X-ALD) have not been reported.Patient concerns:An 11-year-old boy initially presented with exhibitionism and progressive neurobehavioral symptoms. He subsequently developed transient urinary and fecal incontinence, and an unwillingness to eat or communicate.Diagnoses:We conducted contrast-enhanced brain magnetic resonance imaging (MRI), which revealed symmetrical altered signal intensities in bilateral frontal white matter, the basal ganglia, and dorsal thalami, as well as a peripheral rim of contrast enhancement. Diagnosis of adolescent cerebral X-ALD was confirmed on the basis of next generation genetic sequencing analysis.Interventions:We initiated the patient on hormonal replacement therapy.Outcomes:We observed rapidly progressive neurologic deterioration in this patient, and the boy fell into a vegetative state 10 months after discharge.Lessons:We recommend that physicians should not disregard X-ALD in patients with isolated psychiatric symptoms, including hypersexual behavior. The combination of detailed clinical evaluation, MRI, and next generation genetic sequencing can expedite the diagnostic process of atypical variant of X-ALD.

Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease

“…Isolated psychiatric symptoms can dominate the presentation of leukodystrophies in patients with onset in adolescence or adulthood (10)(11)(12)(13). For this reason, we suggest that physicians take into account the possibility of genetic leukoencephalopathies in patients with longstanding psychiatric symptoms, especially if associated with nonspecific neurological symptoms (e.g., sphincter dysfunction).…”

Adrenoleukodystrophy presenting as glue sniffing

“…Ray et al presented a 15-year old with ALD presenting as treatment resistant mania 7. Other psychiatric manifestations reported include exhibitionism8 and attention deficit hyperactivity disorder with acute psychosis 9. However, glue sniffing and conduct disorder as the initial presentation of ALD have not been reported so far.…”