Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.

Introduction and importance: SpADMiSS syndrome (SPOUT1-Associated Developmental delay, Microcephaly, Seizures, and Short stature) is a recently described autosomal recessive neurodevelopmental disorder caused by biallelic variants in Case presentation: We describe a 5.5-year-old girl born to consanguineous parents who presented with refractory early-onset seizures, severe global developmental delay, growth failure, and microcephaly. Neuroimaging revealed marked cerebral atrophy and previously unreported bilateral basal ganglia calcification. The patient also developed bilateral cataracts requiring surgical intervention. Whole-exome sequencing identified a recurrent homozygous missense variant in Clinical discussion: This case expands the phenotypic spectrum of SpADMiSS by documenting basal ganglia calcification, a feature not previously reported in affected individuals. The presence of early-onset cataracts and ocular involvement is best explained by concurrent pathogenic variants in Conclusion: We report a novel presentation of SpADMiSS syndrome associated with basal ganglia calcification and multilocus pathogenic variation. This case underscores the expanding neuroimaging phenotype of