■Alstrom综合征是属于常染色体隐性遗传病的最罕见的单基因纤毛病之一。Alstrom综合征的病理生理学尚不清楚,但根据现有的医学文献,其机制可能与Alstrom综合征1(ALSM1)基因的隐性突变有关,从而导致各种多器官受累和预后不良。此外,在同一时期内双胞胎中同时发生这种综合征被认为是罕见的。
■自新生儿期以来,双胎双胎双胎双胎双胎双胎双胎的健康父母所生男性,有明显的产前和出生史,双胎双眼视力下降。在整个童年时期,该疾病在没有任何确证诊断的情况下进展,在此期间,双胞胎在11岁时同时发生了多个系统受累,例如两个双胞胎的合法失明,胰岛素抵抗和糖尿病的特征,感觉神经性听力损失,亚临床甲状腺功能减退症和各种紊乱的代谢小组。经过全外显子组测序,两个双胞胎在16岁时就诊断出了Alstrom综合征。
■基于遗传特征的alstrom综合征是一种独特的诊断。除了其多器官受累的特点,在此类综合征患者的诊断和治疗过程中,还应关注其进展和预后.在这种情况下的诊断延迟也是一个令人关注的问题,其可导致进一步延迟停止疾病本身的不利影响。由内生学家参与的多学科方法,眼科医生和听力学家可以提高患者的生活质量。
■AlstromHallgren综合征是罕见的遗传性疾病之一,预后不良。在我们的案例中,我们提出了双胞胎的经典发现,这些双胞胎同时被诊断为Alstrom综合征,并且进一步的疾病同时进展。
UNASSIGNED: Alstrom syndrome is one of the rarest monogenic ciliopathy belonging to autosomal recessive disorder. The pathophysiology of Alstrom syndrome is not well understood but based upon the available medical literature its mechanism can be linked with recessive mutation in Alstrom syndrome 1(ALSM1) gene resulting in various multiple organ involvement and poor prognosis. Moreover the co-occurrence of such syndrome simultaneously in
twins in same period of time is considered rare.
UNASSIGNED: Monochorionic diamniotic twins male born to healthy parents with significant antenatal and natal history along with decreased vision in both eyes in both
twins since neonatal period. Throughout the childhood the disease progressed without any confirmatory diagnosis during which the twins underwent simultaneous multiple systemic involvement such as legal blindness in both
twins at the age of 11 years, insulin resistance and features of diabetes mellitus, sensorineural hearing loss, subclinical hypothyroidism and various deranged metabolic panels. Certain diagnosis of Alstrom syndrome was made at the age of 16 years in both
twins after whole-exome sequencing.
UNASSIGNED: Based on genetic profile alstrom syndrome is a unique diagnosis. Along with its multi-organ involvement features, its progression and prognosis should also be looked upon while diagnosis and management in such syndromic patients. The diagnostic delay in such cases is also a matter of concern which can result in further delay in halting adverse effects of the disease itself. The multidisciplinary approach with involvement of endocrionologist, ophthalmologist and audiologist can bring upon improvement in quality of life of the patients.
UNASSIGNED: With the prevalence of 1 in million cases Alstrom Hallgren syndrome is one of the rare genetic disorder with poor prognosis. In our
case we present classical findings in
twins who were diagnosed as Alstrom syndrome concurrently and further diseases progressed simultaneously.