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

Pediatric Emergency Medicine and Day Care Department

Avinoam Shuper, MD

Pediatric Emergency Medicine and Day Care Department

Marc Mimouni, MD

Pediatric Emergency Medicine and Day Care Department

Liora Kornreich, MD

Pediatric Imaging Department

Avinoam Rachmel, MD

Pediatric Department Schneider Children's Medical Center of Israel Petah, Israet

Tally Lerman-Sagie, MD

Pediatric Neurology Unit Wolfson Medical Center Holon, Israel

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).

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