Case report of hyperphenylalaninemia combined with Cornelia de Lange syndrome / 中华实用儿科临床杂志

ABSTRACT

The data of 1 case diagnosed with hyperphenylalaninemia (HPA) combined with Cornelia de Lange syndrome (CdLS) by neonatal screening in Newborn Disease Screening Center, Liaocheng Maternal and Child Health Hospital in February 2018 were analyzed retrospectively.The patient was a girl, 22 months old, with clinical features of specific facial appearance, excessive body hair (especially on the forehead and face), dark and thick hair on the head, a low hairline, a heavy and straight brow, lower ear positions, a small nose, a shallow philtrum, a simian line, strong and rhythmic heart sounds, no murmur in the precordial area, clear respiratory sounds of both lungs, purple marbling patterns on the whole body skin, a soft abdomen, and high muscle tension of limbs.The gene mutation c. 1256A>G(p.Q419R) of the polyclonal antibody( PAH) originated from the patient′s mother, while the mutation c. 4421G>A(splicing) derived from the patient′s father. SMC1A gene was X-linked dominant inheritance, and c. 1979_1980insTGAA was a spontaneous mutation.In this paper, the diagnosis and treatment of HPA and clinical and genetic variation characteristics of 23 CdLS cases in China were reviewed, so as to improve the knowledge of doctors about HPA combined with CdLS.