A Case of Partial 14q- with Facial Features of Holoprosencephaly and Hydranencephaly

• Published in: Pediatric neurology Vol. 37; no. 1; pp. 51 - 54
• Main Authors: Segawa, Yoshie, MD, Itokazu, Naoya, MD, Hirose, Akiko, MD, Nakagawa, Shinichiro, MD, Takashima, Sachio, MD
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.07.2007; Elsevier
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Brain - abnormalities; Brain - diagnostic imaging; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 14; Cleft Palate; Diabetes Insipidus; Fatal Outcome; Female; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Holoprosencephaly - genetics; Humans; Hydranencephaly - genetics; Medical sciences; Nasal Septum - abnormalities; Nervous system (semeiology, syndromes); Neurology; Pediatrics; Tomography, X-Ray Computed; Tumors of the nervous system. Phacomatoses; Arhinencephaly; Nervous system diseases; Malformation; Hydranencephaly; Central nervous system disease; Congenital disease; Cerebral disorder
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2007.02.010

We report a rare case of facial features of holoprosencephaly associated with hydranencephaly, with a de novo proximal interstitial deletion of the long arm of chromosome 14, specifically, del(14)(q13q21). She was born at 37 weeks of gestation and transferred to our institution at 3 years of age. The patient had midline facial anomalies consisting of cleft palate, defective nasal septum, and hypotelorism, together with endocrine abnormalities such as diabetes insipidus and hypothyroidism. Cranial computed tomography revealed the near-total loss of all cerebral tissue, with a frontal part of the cerebral falx lacking. None of the few reports of holoprosencephaly with 14q- chromosomal abnormality describe holoprosencephaly in association with hydranencephaly. The partial deletion of chromosome 14, del(14)(q13q21), may underlie the association of facial features of holoprosencephaly and hydranencephaly.