Shivam Patel B.S.^1,, Jil Modi B.A.¹, Fatima Tahir², Angelo Sica MD³

Skraban-Deardorff Syndrome (SDS) is an extremely rare neurodevelopmental disorder caused by a mutation in the WDR26 gene, leading to delayed psychomotor development. Along with this, patients present with different levels of intellectual disability, characteristic dysmorphic features like coarse facies with prominent maxilla and upper lip, and early-onset seizures. They also exhibit neurodevelopmental features such as hypotonia, failure to thrive, and feeding difficulties, minor structural brain anomalies - like enlarged ventricles, white matter volume loss, cerebellar hypoplasia, and microcephaly. Behaviorally, individuals with SDS are elated and socially engaging, with a preference to engage with adults and children rather than pursue solitary activities. In this case report, we present a unique case of SDS in which the patient presented with coprophagic and self-mutilating behavior, progressive catatonia with a change in baseline, and decreased appetite following the loss of a loved one who was also his primary caretaker. The patient exhibited increased sensitivity to psychotropic medications, including aripiprazole, and developed extrapyramidal side effects, further adding to his decompensation from baseline. The patient experienced marked resolution of his coprophagic and catatonic behavior after discontinuation of Aripiprazole, and continuation of Lorazepam daily. This case highlights how patients with neurodevelopmental disorders present differently when faced with changes in their routine and life circumstances, which can lead to unusual behaviors and physiological responses. Additionally, individuals with SDS may require complex care from various specialists. Therefore, a multidisciplinary approach is crucial for diagnosing and improving patient outcomes when presented with rare diseases such as Skraban-Deardorff Syndrome.

Skraban-Deardorff Syndrome, Coprophagia, Catatonia, Psychotropic Hypersensitivity, Neurodevelopmental disorder, Intellectual disability