Gilio F, Di Rezze S, Conte A, Frasca V, Iacovelli E, Marini Bettolo C, Gabriele M, Giacomelli E, Pizzuti A, Pirro C, Fattapposta F, Habib F I, Prencipe M, Inghilleri M
Department of Neurological Sciences, University of Rome ''Sapienza'', Viale dell'Università 30, I-00185, Rome, Italy.
Neurol Sci. 2007 Dec;28(6):331-5. doi: 10.1007/s10072-007-0848-3. Epub 2008 Jan 4.
Allgrove syndrome is a rare autosomal recessive disorder characterised by childhood onset, alacrima, oesophageal achalasia, adrenocortical insufficiency, neurological and occasionally autonomic involvement. Although the disease has been associated with mutations in the ALADIN gene on chromosome 12q13, it is genetically heterogeneous. The case we report is interesting because of its onset in adulthood, long duration of disease and prominent neurological dysfunctions. After the onset of neurological abnormalities the diagnosis went unrecognised for years until the patient presented for evaluation of dysphagia. The presence of achalasia with dysphagia, adrenal insufficiency, reduced tear production, optic atrophy and peripheral motor-sensory neuropathy with axonal loss led us to clinically diagnose Allgrove syndrome even though a genetic study showed no mutations in the ALADIN gene exons. The case we report shares many clinical features with Allgrove syndrome and, even with the limitations of a single case, underlines the variability in this syndrome and the need for appropriate investigations along with a multidisciplinary approach.
奥尔格罗夫综合征是一种罕见的常染色体隐性疾病，其特征为起病于儿童期，伴有无泪、食管失弛缓症、肾上腺皮质功能不全、神经受累，偶尔还有自主神经受累。尽管该疾病与12q13染色体上的ALADIN基因突变有关，但它在基因上具有异质性。我们报告的这个病例很有意思，因为它成年起病，病程长且有明显的神经功能障碍。神经异常症状出现后，多年来一直未被诊断出来，直到患者因吞咽困难前来评估。存在失弛缓症伴吞咽困难、肾上腺功能不全、泪液分泌减少、视神经萎缩以及伴有轴突丧失的周围运动感觉神经病变，这使我们临床诊断为奥尔格罗夫综合征，尽管基因研究显示ALADIN基因外显子无突变。我们报告的这个病例与奥尔格罗夫综合征有许多临床特征相同，即使存在单个病例的局限性，也凸显了该综合征的变异性以及采用多学科方法进行适当检查的必要性。
