Aprosopia/holoprosencephaly in a stillborn puppy: when the face predicts the brain

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ABSTRACT

In a litter of three puppies, one was stillborn and had facial and brain defects. Fusion of the maxilla and mandible and absence of the face were observed. The forebrain (telencephalon and the diencephalon) was reduced in size and fused, and the telencephalic longitudinal fissure, olfactory bulbs, and optic nerves were absent (Figures 6 and 7). Lissencephaly was observed in the telencephalon and cerebellum. A diagnosis of aprosopia/holoprosencephaly was made.

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Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.

Lavinia Schuler-Faccini, Erlane M Ribeiro, Ian M L Feitosa … (2016)

In early 2015, an outbreak of Zika virus, a flavivirus transmitted by Aedes mosquitoes, was identified in northeast Brazil, an area where dengue virus was also circulating. By September, reports of an increase in the number of infants born with microcephaly in Zika virus-affected areas began to emerge, and Zika virus RNA was identified in the amniotic fluid of two women whose fetuses had been found to have microcephaly by prenatal ultrasound. The Brazil Ministry of Health (MoH) established a task force to investigate the possible association of microcephaly with Zika virus infection during pregnancy and a registry for incident microcephaly cases (head circumference ≥2 standard deviations [SD] below the mean for sex and gestational age at birth) and pregnancy outcomes among women suspected to have had Zika virus infection during pregnancy. Among a cohort of 35 infants with microcephaly born during August-October 2015 in eight of Brazil's 26 states and reported to the registry, the mothers of all 35 had lived in or visited Zika virus-affected areas during pregnancy, 25 (71%) infants had severe microcephaly (head circumference >3 SD below the mean for sex and gestational age), 17 (49%) had at least one neurologic abnormality, and among 27 infants who had neuroimaging studies, all had abnormalities. Tests for other congenital infections were negative. All infants had a lumbar puncture as part of the evaluation and cerebrospinal fluid (CSF) samples were sent to a reference laboratory in Brazil for Zika virus testing; results are not yet available. Further studies are needed to confirm the association of microcephaly with Zika virus infection during pregnancy and to understand any other adverse pregnancy outcomes associated with Zika virus infection. Pregnant women in Zika virus-affected areas should protect themselves from mosquito bites by using air conditioning, screens, or nets when indoors, wearing long sleeves and pants, using permethrin-treated clothing and gear, and using insect repellents when outdoors. Pregnant and lactating women can use all U.S. Environmental Protection Agency (EPA)-registered insect repellents according to the product label.

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Holoprosencephaly

Christèle Dubourg, Claude Bendavid, Laurent Pasquier … (2007)

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. Another milder subtype of HPE called middle interhemispheric variant (MIHF) or syntelencephaly is also reported. In most of the cases, facial anomalies are observed in HPE, like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur without the cerebral malformations and then are called microforms. Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent. To date, seven genes have been positively implicated in HPE: Sonic hedgehog (SHH), ZIC2, SIX3, TGIF, PTCH, GLI2 and TDGF1. A molecular diagnosis can be performed by gene sequencing and allele quantification for the four main genes SHH, ZIC2, SIX3 and TGIF. Major rearrangements of the subtelomeres can also be identified by multiplex ligation-dependent probe amplification (MLPA). Nevertheless, in about 70% of cases, the molecular basis of the disease remains unknown, suggesting the existence of several other candidate genes or environmental factors. Consequently, a "multiple-hit hypothesis" of genetic and/or environmental factors (like maternal diabetes) has been proposed to account for the extreme clinical variability. In a practical approach, prenatal diagnosis is based on ultrasound and magnetic resonance imaging (MRI) rather than on molecular diagnosis. Treatment is symptomatic and supportive, and requires a multidisciplinary management. Child outcome depends on the HPE severity and the medical and neurological complications associated. Severely affected children have a very poor prognosis. Mildly affected children may exhibit few symptoms and may live a normal life.

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Brachycephalic Syndrome

Gilles Dupré, Dorothee Heidenreich (2016)

Animals presenting with brachycephalic syndrome suffer from multilevel obstruction of the airways as well as secondary structural collapse. Stenotic nares, aberrant turbinates, nasopharyngeal collapse, soft palate elongation and hyperplasia, laryngeal collapse, and left bronchus collapse are being described as the most common associated anomalies. Rhinoplasty and palatoplasty as well as newer surgical techniques and postoperative care strategies have resulted in significant improvement of the prognosis even in middle-aged dogs.

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Journal

Journal ID (nlm-ta): Int J Vet Sci Med

Journal ID (iso-abbrev): Int J Vet Sci Med

Title: International Journal of Veterinary Science and Medicine

Publisher: Taylor & Francis

ISSN (Print): 2314-4580

ISSN (Electronic): 2314-4599

Publication date (Electronic, pub): 26 March 2021

Publication date (Electronic, collection): 2021

Volume: 9

Issue: 1

Pages: 7-10

Affiliations

[a ]Faculdade de Medicina Veterinária, Centro Universitário do Espírito Santo (UNESC); , Colatina, ES, Brazi

[b ]Laboratório Regional de Diagnóstico, Faculdade de Veterinária, Universidade Federal de Pelotas (UFPel); , Capão do Leão, Brazil

[c ]Laboratório de Anatomia Patológica, Universidade Federal de Mato Grosso do Sul (UFMS); , Campo Grande, MS, Brazil

[d ]Departamento de Genética, Serviço deGenética Médica Populacional (INAGEMP), Universidade Federal do Rio Grande do Sul (UFRGS); , Porto Alegre, RS, Brazil

Author notes

CONTACT Clairton Marcolongo Pereira clairton.marcolongo@ 123456terra.com.br Faculdade de Medicina Veterinária, Centro Universitário do Espírito Santo (UNESC); , Colatina, 29703-858, ES, Brazil

Author information

Clairton Marcolongo Pereira https://orcid.org/0000-0002-5593-3110

Tayná B. Silva https://orcid.org/0000-0002-2379-2069

Laiz Zaché Roque https://orcid.org/0000-0002-0875-5489

Bárbara Barros https://orcid.org/0000-0002-4041-2232

Luiz Alexandre Moscon https://orcid.org/0000-0003-3648-752X

Ana Lucia Schild https://orcid.org/0000-0003-2470-4785

Leonardo Schüler-Faccini https://orcid.org/0000-0002-7949-2604

Lavinia Schuler-Faccini https://orcid.org/0000-0002-2428-0460

Article

Publisher ID: 1897740

DOI: 10.1080/23144599.2021.1897740

PMC ID: 8008928

SO-VID: 76c926f3-4956-462b-be65-523d773a01d4

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This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Aprosopia/holoprosencephaly in a stillborn puppy: when the face predicts the brain

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Most cited references 21

Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.

Holoprosencephaly

Brachycephalic Syndrome

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