Bassett J K, Chandler K E, Douzgou S
Faculty of Health and Medicine, Lancaster University, Lancaster LA1 4YG, UK.
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester M13 9WL, UK; Institute of Human Development, University of Manchester, Oxford Road, Manchester, M13 9WL, UK.
Eur J Med Genet. 2016 Aug;59(8):401-3. doi: 10.1016/j.ejmg.2016.05.008. Epub 2016 May 13.
Chromosome 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal abnormalities, cardiac malformations and psychiatric symptoms. Hyperphagia and childhood obesity is widely reported in Prader-Willi Syndrome (PWS) but there is only one previous report of this presentation in chromosome 22q11.2 deletion syndrome. We describe two further cases of chromosome 22q11.2 deletion syndrome in which hyperphagia and childhood obesity were the presenting features. This may be a manifestation of obsessive behaviour secondary to some of the psychiatric features commonly seen in chromosome 22q11.2 deletion syndrome. Serious complications may result from hyperphagia and childhood obesity therefore early recognition and intervention is crucial. Due to the similar clinical presentation of these two patients to patients with PWS, it is suggested that the hyperphagia seen here should be managed in a similar way to how it is managed in PWS.
22q11.2染色体缺失综合征是一种临床异质性疾病，表现为智力残疾、甲状旁腺和甲状腺发育不全、腭部异常、心脏畸形及精神症状。贪食和儿童期肥胖在普拉德-威利综合征（PWS）中广泛报道，但此前在22q11.2染色体缺失综合征中仅有一例该表现的报道。我们描述了另外两例22q11.2染色体缺失综合征病例，其主要表现为贪食和儿童期肥胖。这可能是22q11.2染色体缺失综合征常见精神症状继发的强迫行为表现。贪食和儿童期肥胖可能导致严重并发症，因此早期识别和干预至关重要。由于这两名患者的临床表现与PWS患者相似，建议对这里所见的贪食应采用与PWS相同的管理方式。
