Woodhouse-Sakati Syndrome With Psychosis and Basal Ganglia Calcification: A Case Report

Abstract

Woodhouse Sakati syndrome is a rare autosomal recessive multisystem disorder characterized by neuropsychological, endocrinal, and ectodermal symptoms. We report a 52-year-old Saudi female with psychosis, extrapyramidal signs, sensorineural hearing loss, diabetes, hypothyroidism, amenorrhea, hypergonadotropic hypogonadism, absence of secondary sexual characters, and alopecia totalis. Her brain computed tomography (CT) showed bilateral basal ganglia calcification and her genetic testing confirmed homozygous single nucleotide deletion (C.436delC) of frameshift mutation (p.A147HfsX9) in exon 4 of the gene DCAF17 gene. Woodhouse Sakati syndrome seems to be more prevalent, and probably underdiagnosed, in the Middle East and Arab countries, and should be considered in patients with a combination of neurological and endocrinal dysfunction. To our knowledge, this is the first case reported to have psychotic symptoms.




J Med Cases. 2018;9(2):73-75
doi: https://doi.org/10.14740/jmc2996w