X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (also known as Pettigrew syndrome) is an extremely rare X-linked recessive neurological disorder characterized by a combination of intellectual disability, Dandy-Walker malformation of the brain, basal ganglia abnormalities (particularly iron deposition), and seizures. The condition primarily affects the central nervous system, with the Dandy-Walker malformation involving cystic dilation of the fourth ventricle, enlargement of the posterior fossa, and variable hypoplasia of the cerebellar vermis. Affected individuals typically present in infancy or early childhood with developmental delay, progressive intellectual disability, seizures, and may develop choreoathetosis or other movement abnormalities related to basal ganglia involvement. Additional features may include hypotonia, cortical atrophy, and hydrocephalus. Because this is an X-linked recessive condition, it predominantly affects males, while carrier females are generally unaffected or may show mild features. The syndrome has been mapped to the Xq26 region. The condition is exceedingly rare, with only a small number of families reported in the medical literature since its initial description by Pettigrew and colleagues. There is currently no specific or curative treatment available. Management is supportive and symptomatic, focusing on seizure control with antiepileptic medications, management of hydrocephalus if present (potentially requiring surgical shunting), physical therapy, and educational support for intellectual disability. A multidisciplinary approach involving neurology, genetics, and developmental specialists is recommended for optimal care.

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