Department of Health Sciences, Pediatric Unit, Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
Ital J Pediatr. 2022 Aug 17;48(1):147. doi: 10.1186/s13052-022-01316-4.
The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic presenting feature, often firstly attributed to gastrointestinal or endocrinological or genetic diseases, is secondary to a malfunctioning hypothalamus, caused by a diencephalic tumor. Due to its unexpected clinical onset, diagnostic delay and misdiagnosis are common. We described a case series of 3 children with diencephalic syndrome admitted at our Hospital, over a 5-year period. Furthermore, a narrative review on all pediatric cases published in the last seventy years was performed. Clinical pattern, timing to diagnosis, neuroimaging, management, and outcome were analyzed. Our three cases are singularly described in all clinical and diagnostic findings. Overall, 100 children were selected; all these cases as well as our children presented with failure to thrive: 96% had body mass index or weight-length/height ratio lower than 5 percentile. Vomiting and hyperactivity are reported in 35 and 26% of cases, respectively. The neurological features, mainly nystagmus reported in 43%, may occur late in the disease course. In conclusion, the diagnostic delay is the hallmark of diencephalic syndrome, confirming the lack of knowledge by clinicians. The poor weight gain/loss despite adequate length growth and food intake, especially in children with hyperactivity and good psychomotor development, should alert pediatricians towards this condition, before neurological signs/symptoms occurrence.
我们研究的目的是更好地定义间脑综合征的临床特征，这种综合征是婴儿生长不良的罕见但潜在致命原因。体重增加或减少不良，即特征性的表现，通常首先归因于胃肠道、内分泌或遗传疾病，但实际上是由间脑肿瘤引起的下丘脑功能障碍所致。由于其意外的临床发作，诊断延迟和误诊很常见。我们描述了在过去 5 年期间，在我们医院收治的 3 例间脑综合征患儿的病例系列。此外，还对过去 70 年来发表的所有儿科病例进行了叙述性综述。分析了临床特征、诊断时间、神经影像学、治疗和预后。我们的 3 个病例在所有临床和诊断发现方面均有单独描述。总体而言，选择了 100 名儿童；所有这些病例以及我们的患儿都表现为生长不良：96%的患儿体重指数或体重-长度/身高比值低于第 5 百分位数。分别有 35%和 26%的患儿出现呕吐和多动。神经系统特征，主要是报道的 43%的眼球震颤，可能在疾病后期发生。总之，诊断延迟是间脑综合征的特征，证实了临床医生缺乏相关知识。尽管有足够的长度生长和食物摄入，但体重仍减轻或增加不良，特别是在多动和良好精神运动发育的儿童中，应引起儿科医生的警惕，特别是在出现神经系统症状/体征之前。
