Transient Visual Symptoms as the Initial Manifestation of Childhood Adrenoleukodystrophy

doi:10.1016/S0887-8994(98)00015-0

Pediatric Neurology

Volume 19, Issue 1, July 1998, Pages 62-64

https://doi.org/10.1016/S0887-8994(98)00015-0 Get rights and content

Abstract

We report two patients with transient visual symptoms after an acute illness (hypoglycemia and head trauma) who went on to develop a progressive neurodegenerative disease (adrenoleukodystrophy). This report supports the suggestion that environmental factors play a role in the initial expression of the disease and reviews atypical visual manifestations of adrenoleukodystrophy. Proper diagnosis and institution of early treatment before the catastrophic deterioration typical of its natural history requires a high degree of suspicion.

Introduction

Adrenoleukodystrophy (ALD) is an X-linked disease mapped to the q28 region. The three classical presentations are a childhood cerebral form (50%), adult adrenomyeloneuropathy (25%), and isolated adrenal insufficiency (10%) [1]. Other presentations include adult cerebral forms (5%) and asymptomatic relatives with biochemical abnormalities (10%). Visual symptoms are the first manifestation of the childhood cerebral form in 16% of patients [2]. Typical visual symptoms include decreased visual acuity and double vision. They have a slowly progressive course leading to complete cortical blindness [2]. We describe two children with atypical transient visual symptoms as the first recognized manifestation of ALD.

Section snippets

Patient 1

This patient was first seen at age 11 years. This right-handed boy had a negative family history for neurologic, psychiatric, endocrine, and behavior disorders. His personal history was significant for type 1 diabetes treated with insulin since age 6. His course was uneventful up to age 11, when he presented with four episodes of hypoglycemia over a 6-month period in the setting of poorly controlled diabetes. The third episode was particularly severe according to the parents. It occurred after

Discussion

Visual complaints are prominent in ALD because of the topography of the demyelination [3]. MRI shows parieto-occipital lesions in all symptomatic children and in 50% of asymptomatic relatives with the biochemical disorder, with or without adrenal insufficiency [3]. Eleven percent of patients present with impaired visual acuity, and another 5% present with double vision [2]. Moser reported that up to 33% of patients have early visual complaints [2]. The most frequent manifestations in their

References (11)

E Zammarchi et al.
Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis
Brain Dev
(1994)
WW Marsh et al.
Variable phenotypes in a family kindred with adrenoleukodystrophy
Pediatr Neurol
(1991)
B Kruse et al.
Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy
Ann Neurol
(1994)
HW Moser
X-linked adrenoleukodystrophy
A Pasco et al.
Contribution of MRI to the diagnosis of cerebral lesions of adrenoleukodystrophy
Pediatr Radiol
(1991)

There are more references available in the full text version of this article.

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Head trauma can initiate the onset of adreno-leukodystrophy
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X-linked adreno-leukodystrophy and its adult variant, adrenomyeloneuropathy, are caused by mutations in ABCD1 that encodes a peroxisomal membrane protein of unknown physiological significance. In spite of identical mutations, they can have markedly divergent neurological and neuropathologic characteristics. Adreno-leukodystrophy classically presents in normal boys with mild neuropsychiatric features, which progress to frank neurological signs, the vegetative state and death in approximately three years. Adrenomyeloneuropathy typically affects young men with spastic paraparesis and sensory ataxia that can progress over decades. The neuropathologic correlate for adreno-leukodystrophy is severe inflammatory demyelination of posterior cerebral white matter, while a chronic distal axonopathy of spinal cord and peripheral nerve occurs in adrenomyeloneuropathy. Consequently, both modifier genes and environmental factors have been implicated in their pathogeneses. We report five cases of adreno-leukodystrophy whose onsets were initiated by moderate to severe head trauma, two of whom were conversions from adrenomyeloneuropathy. Their clinical courses were rapidly incapacitating, short (i.e., weeks to a few years) and fatal due to marked cerebral inflammatory demyelination. These cases, in concert with several previous reports, indicate that head trauma is one environmental factor that can have a profoundly deleterious effect on those genetically at risk for, or with milder clinical phenotypes of, this disease. Avoidance of potential head trauma and a rapid response to episodes of moderate to severe head trauma in this patient population seem prudent.
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Case ReportTransient Visual Symptoms as the Initial Manifestation of Childhood Adrenoleukodystrophy

Abstract

Introduction

Section snippets

Patient 1

Discussion

Brain Dev

Pediatr Neurol

Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy

Ann Neurol

X-linked adrenoleukodystrophy

Contribution of MRI to the diagnosis of cerebral lesions of adrenoleukodystrophy

Pediatr Radiol

Case Report
Transient Visual Symptoms as the Initial Manifestation of Childhood Adrenoleukodystrophy