Long-term efficacy of glycopyrrolate on sialorrhea in Goldenhar syndrome: a case report.

BACKGROUND: Goldenhar syndrome (GS) is a rare congenital disease characterized by impaired development of different facial structures and deformations of the teeth structures. Sialorrhea, which can cause difficulties in breathing and language impairment, is very common in GS and often difficult to treat. This case report highlights the short- and long-term importance of the therapeutic choice - glycopyrronium in oral solution - for the treatment of sialorrhea in children with poly-malformative syndrome, complicated by outcomes of post-hemorrhagic hydrocephalus. CASE PRESENTATION: We report the case of a 6-year-old child with GS, carrying a percutaneous endoscopic gastrostomy after tracheostomy. The child also presented developmental dysfunction of oral motor skills of feeding, complicated by severe sialorrhea, related to the maxillo-facial dysmorphism. Sialorrhea caused several respiratory tract infections and led to an increase in the care burden. Both the inoculations of botulinum toxin and the treatment with scopolamine transdermal patch have shown mild and transient efficacy. The therapeutic choice of glycopyrronium in oral solution was the most suitable for this patient, leading to long-term sialorrhea control. CONCLUSIONS: This clinical experience represents the first long-term efficacy and tolerability evaluation in using glycopyrrolate oral solution in treating drooling in children with GS. The reduction of drooling over time and the lack of clinically relevant adverse events have contributed to the decrease of respiratory tract infections, the development of oral motor skills, and determining a positive psycho-social impact on the patient's quality of life and her family.

Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence?

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a complex, heterogeneous condition characterized by abnormal prenatal development of facial structures. We present the occurrence of Goldenhar syndrome in an infant born to a woman with a history of prenatal Fluoxetine ingestion throughout her pregnancy. Because this is the first reported case associating maternal Fluoxetine intake with fetal craniofacial malformations, a potential mechanism of injury is discussed. The propositus, a male born from nonconsanguinous parents, had facial asymmetry with right microtia and mandibular hypoplasia; he also had bilateral hypoplastic macula, scoliotic deformity of the thoracic spine, and ventricular septal defect. The mother was under treatment with Fluoxetine 20 mg/day prior to conception and maintained the same dosage throughout her pregnancy. The drug is a selective serotonin re-uptake inhibitor, the most widely prescribed for the treatment of depression. The occurrence of developmental aberrations may be caused by a profound serotonin receptor suppressive state in utero leading to aberrant clinical manifestations of the first and second branchial arches. Despite the very many limitations of case reporting of teratogenic events, it remains an important source of information on which more advanced research is based.

Goldenhar's syndrome: case report.

A case of Goldenhar's Syndrome (oculoauriculovertebral dysplasia) in a 3-day-old Nigerian neonate with right anophthalmos and lipodermoid, left limbal dermoid, bilateral preauricular appendages and mandibular hypoplasia is presented. The lipodermoid was attached to the tarsal conjunctiva of the lower lid of the anophthalmic side. The causative factor was presumably maternal drug (traditional medicine) ingestion at three months gestation. No similar case has been reported previously. The literature on Goldenhar's Syndrome is briefly reviewed.

Anticardiolipin syndrome, aspirin therapy and fetal malformation.

A patient with systemic lupus erythematosus and elevated cardiolipin antibody levels was given low-dose aspirin therapy prior to and throughout her third pregnancy to minimize the risk of miscarriage. She delivered a boy at 38 weeks with the skeletal deformity of two thoracic hemivertebrae. The putative role of aspirin causing this birth defect is discussed.

Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure.

Fetal exposure to primidone was associated with Goldenhar syndrome, hemifacial microsomia, tetralogy of Fallot, aqueductal stenosis, and anterior encephalocele in this male infant. No similar cases in anticonvulsant-exposed pregnancies were found on literature review, despite the increased incidence of other anomalies following such exposure. Goldenhar syndrome, especially related to rare central nervous system anomalies, is reviewed. Experimental production of hemifacial microsomia by a folic acid antagonist, triaxene, is mediated via hemorrhage in the fetus. Intraventricular hemorrhage was noted in this infant as were dilated lateral and third ventricles. The hemorrhagic diathesis and/or the folic acid depletion of newborns following fetal anticonvulsant exposure may have been the underlying mechanism.

Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monozygotic twinning.

Of 36 infants delivered following conception by in vitro fertilization (IVF), 1 case of significant fetal abnormality has been detected. The infant is one of male triplets exposed to medroxyprogesterone acetate (MPA) in utero and demonstrates abnormalities of the ear, vertebral column, and ribs which fit clearly into the oculoauriculovertebral syndrome described by Goldenhar and which have been reported in monozygotic twins with discordance. Marker studies including eight blood groups, HLA haplotype assignments, and banding studies of the chromosomes indicate that the infant and one of his brothers may well be identical (P less than 0.001 for dizygosity) except for the Fy(a) antigen. It is deduced that the fetal abnormality is not causally related either to MPA exposure or to the techniques applied during fertilization and early embryo culture, and furthermore, if the infant is the monozygotic twin of one of his brothers, the two phenomena are unrelated, as each was likely to have occurred at different stages of embryonic development.