Aminopterin syndrome
| Classification according to ICD-10 | |
|---|---|
| Q86.8 | Other congenital malformation syndromes due to known external causes |
| ICD-10 online (WHO version 2019) | |
The aminopterin syndrome is a very rare, by taking folic acid antagonists ( aminopterin or methotrexate ) shortly before or during pregnancy caused Embryopathie . The main characteristics of the malformation syndrome are insufficient ossification of the skull , club feet , facial dysmorphism , skeletal malformations and short stature .
Synonyms are: aminopterin embryopathy; Aminopterin syndrome, fetal; Aminopterin exposure, prenatal
The first description comes from 1950 by the American pathologist JB Thiersch together with FS Philips.
distribution
The frequency is given as less than 1 in 1,000,000, so far more than 50 people have been reported.
root cause
The syndrome is caused by exposure to the folic acid antagonists aminopterin or MTX in the first trimester of pregnancy, usually 4th to 12th week of pregnancy.
Clinical manifestations
Clinical criteria are:
- Manifestation prenatally or as a newborn
- Intrauterine growth retardation , short stature after birth
- Skull abnormalities such as disturbed ossification of the roof of the skull, craniosynostosis , cloverleaf skull
- Facial abnormalities such as hypertelorism , wide bridge of the nose, protruding eyes , microgenius , malformed auricles , cleft palate
- Abnormalities of the extremities such as shortening, clubfoot, missing finger or toe joints, syndactyly or nail hypoplasia
- Hydrocephalus , neural tube defects, and heart defects can occur.
After exposure to aminopterin, anencephaly or hypoplasia of the brain , maxillary retrognathy , flat supraorbital bulges , ptosis , mesomelia , and after exposure to methotrexate, more frequent turret skulls , large posterior fontanels, or anomalies of the ribs , fingers or toes are found.
diagnosis
The suspected diagnosis can already be made during pregnancy by means of fine ultrasound .
Differential diagnosis
The pseudoaminopterin syndrome , developmental anomalies of the cranium, the Pierre Robin sequence and reduction defects of the limbs are to be distinguished.
literature
- KD Piggott, A. Sorbello, E. Riddle, W. DeCampli: Congenital cardiac defects: a possible association of aminopterin syndrome and in utero methotrexate exposure? In: Pediatric cardiology. Vol. 32, No. 4, April 2011, pp. 518-520, doi: 10.1007 / s00246-011-9913-z , PMID 21327892 .
- S. Aftimos: Fetal methotrexate / aminopterin syndrome in an adult: a likely case with ectodermal abnormalities. In: Clinical dysmorphology. Vol. 18, No. 1, January 2009, pp. 53-55, doi: 10.1097 / MCD.0b013e32831552c4 , PMID 19011571 .
- JB Thiersch: Therapeutic abortions with a folic acid antagonist, 4-aminopteroylglutamic acid (4-amino PGA) administered by the oral route. In: American Journal of Obstetrics and Gynecology . Vol. 63, No. 6, June 1952, pp. 1298-1304, PMID 14933487 .
Individual evidence
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d e Aminopterin / methotrexate embryopathy. In: Orphanet (Rare Disease Database).
- ↑ L. Döderlein: foot deformities 1. The clubfoot. Springer, 1999, ISBN 978-3-540-65622-7 ( limited preview in Google book search).
- ↑ JB Thiersch, FS Philips: Effect of 4-amino-pteroylglutamic acid (aminopterin) on early pregnancy. In: Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine. Vol. 74, No. 1, May 1950, pp. 204-208, PMID 15430435 .
- ↑ Fetal Ultrasound online
