Arya Rigya, Ahmad Tehmina, Dash Satya
Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Division of Endocrinology and Metabolism, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Endocrinol Diabetes Metab Case Rep. 2022 Jul 1;2022. doi: 10.1530/EDM-21-0153.
Central diabetes insipidus (CDI) is a rare manifestation of acute myeloid leukemia (AML) with unclear etiology. When present, CDI in AML has most often been described in patients with chromosome 3 or 7 aberrations and no abnormalities on brain imaging. In this case, we present a woman with newly diagnosed AML t(12;14)(p12;q13) found to have diabetes insipidus (DI) with partial anterior pituitary dysfunction and abnormal brain imaging. While in hospital, the patient developed an elevated serum sodium of 151 mmol/L with a serum osmolality of 323 mmol/kg and urine osmolality of 154 mmol/kg. On history, she reported polyuria and polydipsia for 5 months preceding hospitalization. Based on her clinical symptoms and biochemistry, she was diagnosed with DI and treated using intravenous desmopressin with good effect; sodium improved to 144 mmol/L with a serum osmolality of 302 mmol/kg and urine osmolality of 501 mmol/kg. An MRI of the brain done for the assessment of neurologic involvement revealed symmetric high-T2 signal within the hypothalamus extending into the mamillary bodies bilaterally, a partially empty sella, and loss of the pituitary bright spot. A pituitary panel was completed which suggested partial anterior pituitary dysfunction. The patient's robust improvement with low-dose desmopressin therapy along with her imaging findings indicated a central rather than nephrogenic cause for her DI. Given the time course of her presentation with respect to her AML diagnosis, MRI findings, and investigations excluding other causes, her CDI and partial anterior pituitary dysfunction were suspected to be secondary to hypothalamic leukemic infiltration.
Leukemic infiltration of the pituitary gland is a rare cause of central diabetes insipidus (CDI) in patients with acute myeloid leukemia (AML). Patients with AML and CDI may compensate for polyuria and prevent hypernatremia with increased water intake. AML-associated CDI can require long-term desmopressin treatment, independent of AML response to treatment.
中枢性尿崩症(CDI)是急性髓系白血病(AML)的一种罕见表现,其病因尚不清楚。AML患者出现CDI时,最常见于有3号或7号染色体畸变且脑成像无异常的患者。在此病例中,我们报告一名新诊断为AML t(12;14)(p12;q13)的女性,发现其患有尿崩症(DI),伴有部分垂体前叶功能障碍及脑成像异常。住院期间,患者血清钠升高至151 mmol/L,血清渗透压为323 mmol/kg,尿渗透压为154 mmol/kg。病史询问显示,她在住院前5个月就出现了多尿和烦渴症状。根据其临床症状和生化检查结果,她被诊断为DI,并接受了静脉注射去氨加压素治疗,效果良好;钠水平改善至144 mmol/L,血清渗透压为302 mmol/kg,尿渗透压为501 mmol/kg。为评估神经受累情况而进行的脑部MRI检查显示,下丘脑内对称的高T2信号双侧延伸至乳头体,垂体窝部分空虚,垂体亮点消失。完成的垂体功能检查提示部分垂体前叶功能障碍。患者经低剂量去氨加压素治疗后显著改善,结合其影像学检查结果,提示其DI为中枢性而非肾性病因。鉴于其出现症状的时间与AML诊断、MRI检查结果以及排除其他病因的检查结果相关,怀疑其CDI和部分垂体前叶功能障碍是下丘脑白血病浸润所致。
垂体白血病浸润是急性髓系白血病(AML)患者中枢性尿崩症(CDI)的罕见病因。AML合并CDI的患者可通过增加水摄入量来代偿多尿并预防高钠血症。AML相关的CDI可能需要长期使用去氨加压素治疗,与AML对治疗的反应无关。