Symptoms of angel syndrome

summary

Have you ever heard of "angel syndrome"? It is also known as "happy puppet syndrome", which is a disease caused by genetic defects, mainly caused by maternal single gene genetic defects. What are his specific clinical manifestations? Let's talk about it.

Symptoms of angel syndrome

It is characterized by severe dyskinesia, mental retardation, ataxia, hypotonia, epilepsy, language disorders, and a special face characterized by a huge jaw, open mouth and open tongue, and crying when amused.

All patients presented with laughter, occipital sulcus, abnormal tongue extension (extended tongue), and characteristic EEG discharge (EEG pattern was composed of high amplitude bilateral peak and wave activity, symmetrical synchronous and often single rhythm, with two slow waves per second).

Some of the patients were aphasia or lack of language function; The pigmentation of 39% of the patients was lower than that of the normal people in their families. The patients with low pigmentation were characterized by light skin color, decreased retinitis, low activity of hair follicle tyrosinase, and incomplete melanization of melanosomes as part of the as phenotype, which was similar to Prader Willi syndrome.

matters needing attention

The weight of children with the syndrome is often low, which is less than 5 kg at birth, so it provides an important hint for prevention. Therefore, when a woman is pregnant, if a more serious intrauterine growth retardation is found, she should do MLPA or gene chip and other genetic tests in time, so as to find out whether the child has genetic diseases in time.