Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion.

Neuro-ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5-year-old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis. Family history revealed similarly affected siblings, suggesting a hereditary basis. Despite multiple antiepileptic drugs, seizures remained uncontrolled. Whole exome sequencing identified a homozygous CC2D2A variant consistent with Joubert syndrome type 9, along with heterozygous variants in ABCA12 and DOCK6, and a 14q31.3-q32.11 deletion. This unique combination represents an unprecedented multilocus pathogenic mechanism contributing to the complex neurocutaneous phenotype. The findings expand the known genotypic and phenotypic spectrum of neuro-ichthyosis and highlight the importance of early whole exome sequencing for accurate diagnosis, genetic counseling, and management of patients with severe neurocutaneous disorders, especially in consanguineous populations where multilocus pathogenicity may underlie atypical or severe presentations.