Das Soumitra, Giri Sangam, Shah Darshini B, Fichadia Palak A, Rao Mukund, Ravilla Shyam
Psychiatry and Behavioral Sciences, Western Health, Victoria, AUS.
Medicine, Kathmandu Medical College, Kathmandu, NPL.
Cureus. 2024 Aug 12;16(8):e66699. doi: 10.7759/cureus.66699. eCollection 2024 Aug.
Genetic and metabolic disorders present unique challenges in understanding the pathophysiology and outcomes of specific symptoms and presentations due to their broad spectrum of manifestations and etiologies. In this case report, we have studied a 26-year-old who was diagnosed with omodysplasia, a rare form of skeletal dysplasia. She exhibits atypical symptoms of psychosis and was diagnosed with schizophreniform disorder at an early age. Various antipsychotic medications were administered; however, minimal to no improvement was noted in the symptoms. On the contrary, she reported adverse effects to some antipsychotics. She continued to exhibit delusions and hallucinations and showed clinical improvement after treatment with olanzapine. Her clinical course was further complicated by the presence of borderline personality traits, which went unnoticed earlier. Here, we would like to highlight the course of her symptoms, the different treatments administered, and the possible link between omodysplasia and treatment-resistant schizophrenia.
遗传和代谢紊乱在理解特定症状和表现的病理生理学及结果方面带来了独特挑战，因为它们的表现形式和病因范围广泛。在本病例报告中，我们研究了一名26岁被诊断患有骨发育不全（一种罕见的骨骼发育异常形式）的患者。她表现出非典型的精神病症状，并在早年被诊断为精神分裂症样障碍。使用了各种抗精神病药物；然而，症状几乎没有改善，甚至没有改善。相反，她报告了对某些抗精神病药物的不良反应。她继续出现妄想和幻觉，使用奥氮平治疗后症状有所改善。她的临床病程因边缘性人格特质的存在而进一步复杂化，而这一点在早期未被注意到。在此，我们想强调她的症状过程、所采用的不同治疗方法以及骨发育不全与难治性精神分裂症之间可能存在的联系。
