Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review. Issue 29 (July 2018)

• Record Type: Journal Article
• Authors: Ionescu, Crîngu Antoniu; Calin, Dan; Navolan, Dan; Matei, Alexandra; Dimitriu, Mihai; Herghelegiu, Catalin; Ples, Liana
• Other Names: NA. section editor.
• Is Part Of: Medicine. Volume 97:Issue 29(2018)
• Publication Date: 2018-07
• Subjects: cebocephaly -- facial abnormalities -- holoprosencephaly -- hypotelorism -- microcephaly -- single nostril nose; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000011521
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres. We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis. Patient concern: The main knowledge added by this case is the late ultrasound diagnosis and chromosomal analysis that revealed a very rare abnormality (45X/46, XX/47, XX) with mosaicism at chromosome 18. Diagnoses: Investigation of the mother revealed nothing remarkable from clinical point of view and on laboratory tests. Ultrasonography identified a fetal biometry appropriate for gestational age, except for the head biometry and abdominal circumference, that were appropriate for less than the fifth percentile. Microcephaly, a large midline monoventricle, absent midlinestructures, cleft lip, cebocephaly (hypotelorism, single-nostril nose), ethmocephaly (hypotelorism, interorbital proboscis) and craniosynostosis, were also present. Fetal magnetic resonance imaging of fetus revealed an absent midline structure, a central monoventricle, abnormal corpus calosum, and abnormal gyri. Interventions: A cesarean section at 38 weeks was indicated for fetal bradycardia and a female baby was delivered, with Apgar score 6, weight 2290g. After birth, the diagnosis of the fetus confirmed holoprosencephaly with facial anomalies and demonstrated repeated tonic-clonic seizure, severe respiratory failure, cyanosis, decreased muscle tone, palor, and apnea. Laboratory examination of the newborn revealed acidosis and a prolonged of prothrombin time. The neonate was treated for severe respiratory distress syndrome, with immediate intubation and resuscitation. Vitamin K, fresh frozen plasma, and antibiotics were also administered. Outcomes: After delivery, exitus of the fetus occurred at 3 days and 18hours due to massive pulmonary hemorrhage. Lessons: We described a case of alobar holoprosencephaly diagnosed at 38 weeks of gestation and associated with a rare chromosomal abnormality (45X/46, XX/47, XX) with mosaicism at chromosome 18. Emotional implications could have been less severe if the patient underwent regular ultrasonography allowing a diagnosis in the first or early second trimester.