Periventricular Brain Heterotopias in a Child With Adrenocortical Insufficiency, Achalasia, Alacrima, and Neurologic Abnormalities (Allgrove Syndrome)

We describe a previously unreported fmding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism...

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Bibliographic Details
Published in:Journal of child neurology 1999-05, Vol.14 (5), p.331-334
Main Authors: Zeharia, Avraham, Shuper, Avinoam, Mimouni, Marc, Kornreich, Liora, Rachmel, Avinoam, Lerman-Sagie, Tally
Format: Article
Language:English
Subjects:
Adrenal Insufficiency - complications
Adrenal Insufficiency - diagnosis
Adrenal Insufficiency - genetics
Brain Diseases - complications
Brain Diseases - diagnosis
Brain Diseases - genetics
Cerebral Ventricles
Child
Choristoma - complications
Choristoma - diagnosis
Choristoma - genetics
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosomes, Human, Pair 12 - genetics
Esophageal Achalasia - complications
Esophageal Achalasia - diagnosis
Esophageal Achalasia - genetics
Female
Humans
Intellectual Disability - complications
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Magnetic Resonance Imaging
Syndrome
Tears - secretion
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Summary:We describe a previously unreported fmding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder. (J Child Neurol 1999;14:331-324).
ISSN:0883-0738
1708-8283
DOI:10.1177/088307389901400512