misoprostol and Growth-Disorders

Gomez-López-Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.

Topics: Abnormalities, Multiple; Alopecia; Cerebellum; Child; Child, Preschool; Craniofacial Abnormalities; Female; Growth Disorders; Humans; Magnetic Resonance Imaging; Misoprostol; Neurocutaneous Syndromes; Phenotype; Rhombencephalon; Trigeminal Nerve

Fetal aminopterin/methotrexate syndrome was described nearly 50 years ago when these agents were first used as abortifacients. Physicians essentially stopped using these agents when the associated anomalies were recognized. Over the last several years the use of methotrexate with or without misoprostol for management of ectopic pregnancy and medical terminations of pregnancy has increased.. A 23-year-old female sought a termination at eight weeks gestation. She was given methotrexate followed by misoprostol.. The medical termination was unsuccessful. The patient elected to continue the pregnancy secondary to financial considerations. She presented at 39 weeks without intervening prenatal care. She was diagnosed with severe preeclampsia. At delivery the infant was hypotonic and growth restricted with multiple anomalies.. Physicians are increasingly using methotrexate with or without misoprostol for treatment of ectopic pregnancies and medical terminations. Clinicians need to be aware of the characteristic teratologic effects of these two agents.

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Abortifacient Agents, Nonsteroidal; Abortion, Incomplete; Abortion, Induced; Adult; Female; Growth Disorders; Humans; Infant; Methotrexate; Misoprostol; Pregnancy