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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Adrenoleukodystrophy (ALD, AMN) | 2A0 Case 2 History
Case 2 History ---- The patient was a 6-year-old boy with adrenoleukodystrophy. His family history is significant for a maternal grandfather with Addison's disease, several male relatives (children and adults) with a "brain disorder" and two distant relatives on his maternal side with cerebral leukodystrophy. His maternal aunts (aged 50 and 54) also have gait and bladder problems. His younger sister is healthy. His initial neurologic deficit consisted of right leg weakness in February 2003, followed by right hand weakness. Imaging studies done at the time of initial presentation showed enhancement in the left thalamus/corona radiata. Stereotactic biopsy of the lesion showed a complex inflammatory process with lymphocytes, reactive astrocytes and macrophages, as well as myelin-deficient areas with relative axonal preservation, and no evidence of angionecrosis or infectious organisms. He was admitted in May 2003 with worsening hemiparesis, drooling/dysarthria, and perseveration of speech. Magnetic resonance imaging (MRI) demonstrated extension of the previously identified enhancing process into the brainstem. His hemiparesis improved after treatment with steroids. Laboratory studies were negative, except for an increased level of very long chain fatty acids (VLCFA) in the serum, consistent with adrenoleukodystrophy (ALD). Later, DNA mutational analysis confirmed the diagnosis of X-linked ALD; the nature of the mutation in question is not immediately available in the electronic medical record. He underwent HLA-matched bone marrow transplant in 05/2003; the bone marrow donor is his asymptomatic sister, who is an obligate carrier of the X-linked mutation. In spite of persistent VLCFA post-transplantation, he showed no symptomatic or radiographic progression (MRI on 08/08/2006 showed T2 signal hyperintensity in the left periventricular white matter with extension into the left midbrain and along the course of the corticospinal tract, all unchanged since his previous MRI study in 08/2005). He was receiving regular physical, occupational and speech therapy. His linear growth had slowed (height tenth percentile, weight 75th percentile), but his motor function showed some improvement. He still had right hemiparesis involving upper and lower extremities and slight lower facial weakness, was unable to use the fingers of his right hand, and showed some slow fine finger movements in his left hand. He was excelling in math and sciences He had an apparent seizure and was transported by helicopter to an outside hospital emergency department, where he arrived approximately 60-70 minutes after seizure onset. During transit he experienced cardiac arrest which was treated with multiple agents but developed asymmetric fixed pupils with skewed position, temperature instability, and negative cold calorics. A meeting was held with the family and a decision to withdraw support was reached. After extubation, he expired. At autopsy his fresh brain weight was 1480 g (age normal = 1315 g) with mild edema.
