A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy.

ABSTRACT:

Objective

We report a novel presentation of childhood cerebral X-linked adrenoleukodystrophy: status epilepticus followed by abrupt and catastrophic neurologic deterioration.

Methods

A description of the clinical presentation, laboratory evaluation, and imaging findings leading to a diagnosis of X-linked adrenoleukodystrophy.

Results

A 3-year-old male with prior history of autism presented with fever, diarrhea, and status epilepticus requiring a pentobarbital coma. Admission labs were notable only for a glucose level of 22 mg/dL, which stabilized after correction. The child never returned to his prior neurologic baseline, with complete loss of gross motor, fine motor, and speech skills. Serial brain magnetic resonance imaging (MRI)/magnetic resonance spectroscopy (MRS

SUBMITTER: Vawter-Lee MM 

PROVIDER: S-EPMC4582021 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature