A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy

• DOI: 10.1007/8904_2015_446
• Publication Date: 2015-05-12T06:20:04Z
• Authors: M. M. Vawter-Lee; B. E. Hallinan; T. A. Burrow; C. G. Spaeth; T. M. Arthur
• Keywords: Adrenoleukodystrophy

We report a novel presentation of childhood cerebral X-linked adrenoleukodystrophy: status epilepticus followed by abrupt and catastrophic neurologic deterioration.A description the clinical presentation, laboratory evaluation, imaging findings leading to diagnosis adrenoleukodystrophy.A 3-year-old male with prior history autism presented fever, diarrhea, requiring pentobarbital coma. Admission labs were notable only for glucose level 22 mg/dL, which stabilized after correction. The child never returned his baseline, complete loss gross motor, fine speech skills. Serial brain magnetic resonance (MRI)/magnetic spectroscopy (MRS) was progressive diffuse cortical signal changes swelling, diffusion restriction, ultimately laminar necrosis. Nine months CSF (cerebrospinal fluid) protein MRS lactate persistently elevated, concerning neurodegenerative disorder. This led testing mitochondrial disease, lysosomal peroxisomal disorders. Very long-chain fatty acids elevated. Identification pathogenic ABCD1 mutation confirmed adrenoleukodystrophy.Boys adrenoleukodystrophy typically present gradual behavioral changes. Rare reports boys presenting transient altered mental or describe recovery their pre-presentation baseline. To our knowledge this is first X-ALD patient function. should be suspected in young males seizures, acute decline function, elevated lactate.