RESUMO
SCY1-like protein 2 (SCYL2) is a member of the SCY1-like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knockout mice have excess prenatal mortality and survivors show severe neurological dysfunction. Bi-allelic loss-of-function (LOF) variants in SCYL2 were recently associated with arthrogryposis multiplex congenita-4 (AMC4) following the report of 6 individuals from two consanguineous unrelated families. The AMC4 phenotype described included severe arthrogryposis, corpus callosum agenesis, epilepsy and frequently, early death. We describe here two additional similarly affected individuals with AMC4, including one diagnosed in the prenatal period, with bi-allelic LOF variants in SCYL2, and two individuals homozygous for missense variants in the protein kinase domain of SCYL2 and presenting with developmental delay only. Our study confirms the association of SCYL2 with AMC4 and suggests a milder phenotype can occur, extending the phenotypic spectrum of autosomal recessive SCYL2-related disorders.
RESUMO
Fusion imaging (FI), the simultaneous display of the same anatomical region using two imaging modalities, has been used in other areas of medicine for both diagnosis and guiding interventions. Examples include positron emission tomography-computed tomography (PET-CT) imaging in oncology and ultrasound-magnetic resonance imaging (US-MRI) fusion in biopsies of the prostate gland. The underlying principle is to take advantage of the complementary information in each modality to improve accuracy, be it diagnostic accuracy or targeting accuracy in biopsies. For example, PET-CT overlays the metabolic activity of lesions on the superb spatial and anatomical detail of CT. While the historical mainstay of fetal imaging has been ultrasound, advances in ultrafast MR imaging together with advances in fetal MRI over the past two decades, have resulted in the opportunity to explore fusion imaging in fetal medicine. We present an overview of the principles of US-MRI fusion imaging in prenatal medicine, report our local experience, and review the literature in this emerging area. We share our perspective on how FI can improve diagnostic confidence, be used as an educational tool, and potentially enhance guidance in certain fetal procedures.
Assuntos
Doenças Fetais/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Imagem Multimodal/métodos , Ultrassonografia Pré-Natal/métodos , Feminino , Doenças Fetais/terapia , Terapias Fetais , Feto/diagnóstico por imagem , Humanos , Perinatologia , Gravidez , Ultrassonografia Doppler em Cores , Ultrassonografia de IntervençãoRESUMO
Clubfoot and positional foot deformities (eg, pes spinatus) may have the same aspects on prenatal ultrasound (US) imaging. Nevertheless, differentiating these entities is essential because their prognoses are different. This pictorial review illustrates the US findings of clubfoot and positional foot deformities. On the basis of clinical postnatal images, we describe a prenatal US technique that could give an accurate diagnosis. In this essay, we demonstrate that when a foot malposition is suspected, a systematic analysis with 3 rigorous planes could help differentiate positional foot deformities from malformations and define their types.
Assuntos
Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/embriologia , Ultrassonografia Pré-Natal/métodos , Feminino , Pé/diagnóstico por imagem , Pé/embriologia , Deformidades do Pé/diagnóstico por imagem , Deformidades do Pé/embriologia , Humanos , Postura , Gravidez , PrognósticoRESUMO
INTRODUCTION: SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report. METHODS: We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features. RESULTS: Our patient presented with a syndromic association of severe global developmental delay and diverse malformations, including cleft lip and palate, facial dysmorphic features, brain abnormalities, heart defect, growth retardation, and severe infections. She carried a novel SMG9 homozygous variant NM_019108.3:c.1177C>T, p.(Gln393*), while her unaffected parents were both heterozygous. CONCLUSIONS: We confirm that bi-allelic truncating SMG9 variants cause a severe developmental syndrome including brain and heart malformations associated with facial dysmorphic features, severe growth and developmental delay with or without ophthalmological abnormalities, severe feeding difficulties, and life-threatening infections.
Assuntos
Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Peptídeos e Proteínas de Sinalização Intracelular/genética , Mutação , Alelos , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Pré-Escolar , Consanguinidade , Feminino , Estudos de Associação Genética/métodos , Homozigoto , Humanos , Linhagem , Fenótipo , SíndromeRESUMO
BACKGROUND: Intraventricular hemorrhage (IVH) is a frequent complication in extreme and very preterm births. Despite a high risk of death and impaired neurodevelopment, the precise prognosis of infants with IVH remains unclear. The objective of this study was to evaluate the rate and predictive factors of evolution to post hemorrhagic hydrocephalus (PHH) requiring a shunt, in newborns with IVH and to report their neurodevelopmental outcomes at 2 years of age. METHODS: Among all preterm newborns admitted to the department of neonatalogy at Rouen University Hospital, France between January 2000 and December 2013, 122 had an IVH and were included in the study. Newborns with grade 1 IVH according to the Papile classification were excluded. RESULTS: At 2-year, 18% (n = 22) of our IVH cohort required permanent cerebro spinal fluid (CSF) derivation. High IVH grade, low gestational age at birth and increased head circumference were risk factors for PHH. The rate of death of IVH was 36.9% (n = 45). The rate of cerebral palsy was 55.9% (n = 43) in the 77 surviving patients (49.4%). Risk factors for impaired neurodevelopment were high grade IVH and increased head circumference. CONCLUSION: High IVH grade was strongly correlated with death and neurodevelopmental outcome. The impact of an increased head circumference highlights the need for early management. CSF biomarkers and new medical treatments such as antenatal magnesium sulfate have emerged and could predict and improve the prognosis of these newborns with PHH.
Assuntos
Hemorragia Cerebral/complicações , Hidrocefalia/etiologia , Transtornos do Neurodesenvolvimento/etiologia , Paralisia Cerebral/epidemiologia , Derivações do Líquido Cefalorraquidiano/estatística & dados numéricos , Pré-Escolar , Epilepsia/etiologia , Feminino , Seguimentos , França , Idade Gestacional , Cabeça/anatomia & histologia , Transtornos da Audição/etiologia , Mortalidade Hospitalar , Humanos , Hidrocefalia/complicações , Hidrocefalia/terapia , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal , Transtornos do Desenvolvimento da Linguagem/etiologia , Masculino , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Transtornos da Visão/etiologiaRESUMO
OBJECTIVE: Our aim is to assess the neurodevelopmental outcome of children with a prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM). METHOD: This is a retrospective cohort study from 1994 to 2011. We included fetuses with unilateral or bilateral ventriculomegaly equal to or greater than 15 mm at prenatal ultrasound and confirmed by magnetic resonance imaging, whose parents chose continuation of pregnancy past 22 weeks, and with no associated findings at diagnosis (i.e. no brain malformation or cerebral lesions, normal karyotype, no other congenital abnormalities by ultrasound, and negative toxoplasma, rubella, cytomegalovirus, and herpes test. Children were followed up for at least 2 years. Children were classified into three groups: normal, moderate, or severe abnormalities according to psychomotor developmental stages and/or a visual or hearing impairment and/or behavioral disorders. RESULTS: Twenty-one patients fulfilled the study criteria. SVM was diagnosed at an average gestational age of 30 weeks (range 22-37 weeks). Head circumference was >95th centile in 39% of them. The etiology of SVM was intraventricular hemorrhage in 6 (29%), stenosis of the aqueduct of Sylvius in 3 (14%), and undetermined in 12 (57%). Neurosurgery was performed in four infants, and ventriculoperitoneal shunts were inserted in three. At a mean age at last follow-up of 8.4 years, neurodevelopmental outcome was normal in 62% and moderate and severely impaired in 14% and 24% of children, respectively. There was no association between neurologic outcome and severity of ventricular dilation at prenatal imaging, gestational age at initial diagnosis of SVM, or etiology of the ventricular dilatation. CONCLUSION: The majority of children with apparently isolated SVM show normal neurodevelopmental outcome. No prenatal risk factor identify cases at higher risk for severely abnormal neurologic outcome. © 2017 John Wiley & Sons, Ltd.
Assuntos
Hidrocefalia/complicações , Transtornos do Neurodesenvolvimento/etiologia , Adulto , Criança , Desenvolvimento Infantil , Feminino , França/epidemiologia , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/epidemiologia , Recém-Nascido , Sistema Nervoso/crescimento & desenvolvimento , Transtornos do Neurodesenvolvimento/epidemiologia , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-NatalRESUMO
Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is often poor possibly because of recurrent seizures and developmental structural brain abnormalities. We report on five patients with PDE from three unrelated families. The diagnosis was confirmed by ALDH7A1 sequencing, which allowed for the characterization of two homozygous variations [NM_001182.3:c.1279G > C - p.(Glu427Gln) and c.834G > A - p.(Val278Val)]. Brain autopsy was conducted for one untreated patient with molecularly confirmed antiquitin deficiency. Macroscopic and histological examination revealed a combination of lesions resulting from recurrent seizures and consisting of extensive areas of cortical necrosis, gliosis, and hippocampic sclerosis. The examination also revealed developmental abnormalities including corpus callosum dysgenesis and corticospinal pathfinding anomalies. This case is the second to be reported in the literature, and our findings show evidence that antiquitin is required for normal brain development and functioning. Despite prophylactic prenatal pyridoxine supplementation during the last trimester of pregnancy in one of the three families and sustained pyridoxine treatment in three living patients, the clinical outcome remained poor with delayed acquisition of neurocognitive skills. Combined therapy (pyridoxine/arginine supplementation and lysine-restricted diet) should be considered early in the course of the disease for a better long-term outcome. Enhanced knowledge of PDE features is required to improve treatment strategies.
Assuntos
Epilepsia/genética , Epilepsia/patologia , Criança , Pré-Escolar , Suplementos Nutricionais , Epilepsia/dietoterapia , Evolução Fatal , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Piridoxina/administração & dosagemRESUMO
BACKGROUND: Recent studies have demonstrated that a routine third-trimester ultrasound scan may improve the detection of small for gestational age infants when compared with clinically indicated ultrasound scans but with no reported reduction in severe perinatal morbidity. Establishing the optimal gestational age for the third-trimester examination necessitates evaluation of the ability to detect small for gestational age infants and to predict maternal and perinatal outcomes. Intrauterine growth restriction most often corresponds with small for gestational age infants associated with pathologic growth patterns. OBJECTIVE: This study aimed to assess the performance of routine early ultrasound scans vs late ultrasound scans during the third trimester of pregnancy to identify small for gestational age infants and fetuses with intrauterine growth restriction. STUDY DESIGN: This was an open-label, randomized, parallel trial conducted in Upper Normandy, France, from 2012 to 2015. The study eligibility criteria were heathy, nulliparous women older than 18 years with gestational age determined using the crown-rump length at the first trimester routine scan and with no fetal malformation or suspected small for gestational age fetus at the routine second trimester scan. Pregnant women were randomly assigned to a third-trimester scan group at 31 weeks gestational age ±6 days (early ultrasound scan) or at 35 weeks gestational age ±6 days (late ultrasound scan). The primary outcome of this trial was the ability of a third trimester scan to predict small for gestational age infants (customized birth weight <10th percentile) and intrauterine growth restriction (customized birth weight Assuntos
Retardo do Crescimento Fetal
, Ultrassonografia Pré-Natal
, Feminino
, Humanos
, Gravidez
, Peso ao Nascer
, Retardo do Crescimento Fetal/diagnóstico por imagem
, Retardo do Crescimento Fetal/epidemiologia
, Idade Gestacional
, Terceiro Trimestre da Gravidez
, Ultrassonografia Pré-Natal/métodos
Assuntos
Uretra/diagnóstico por imagem , Obstrução Uretral/diagnóstico por imagem , Micção , Anormalidades Urogenitais/diagnóstico por imagem , Endoscopia , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Sensibilidade e Especificidade , Ultrassonografia Pré-Natal , Uretra/anormalidades , Uretra/fisiopatologia , Obstrução Uretral/congênito , Obstrução Uretral/fisiopatologia , Anormalidades Urogenitais/fisiopatologia , Procedimentos Cirúrgicos Urológicos MasculinosRESUMO
We report a case of Herlyn-Werner-Wunderlich syndrome diagnosed in the neonatal period. US revealed the classic association of a uterus didelphys with blind hemivagina and no ipsilateral kidney. The diagnosis was established by postnatal US and confirmed by MRI. Differential diagnoses are discussed. A trans-hymeneal resection of the vaginal septum was performed at 1 month of age. Intra operative endoscopy revealed no left hemitrigone but showed an atretic orifice in the ipsilateral blind hemivagina, probably corresponding to the insertion of an ectopic ureter. Follow-up was unremarkable.
Assuntos
Anormalidades Múltiplas/diagnóstico , Rim/anormalidades , Anormalidades Urogenitais/diagnóstico , Doenças Uterinas/diagnóstico , Útero/anormalidades , Vagina/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Ultrassonografia , Anormalidades Urogenitais/diagnóstico por imagem , Doenças Uterinas/diagnóstico por imagemRESUMO
Nasal glioma is a rare congenital midline malformation composed of heterotopic masses of neuroglial tissue. We report a case of fetal nasal glioma diagnosed by sonography at 22 weeks' gestation as a vascular hypoechoic mass located on the left nasal bone. Fetal MRI excluded an underlying bone defect. At birth, the lesion appeared as a reddish mass. Post natal imaging confirmed the vascularisation within the lesion with an arterial low-flow velocity and a high-resistance spectrum, consistent with a glioma. The child underwent surgery at 5 months and final diagnosis was made on pathological examination. Therefore, a vascular lesion and a clinical aspect mimicking a haemangioma should not be considered sufficient to reach the final diagnosis.
Assuntos
Glioma/diagnóstico por imagem , Neoplasias Nasais/diagnóstico por imagem , Nariz/patologia , Diagnóstico Pré-Natal , Adulto , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/patologia , Glioma/patologia , Humanos , Neoplasias Nasais/patologia , Gravidez , Resultado do Tratamento , UltrassonografiaRESUMO
De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its first description in 2013, nine patients have been reported in case reports and a series of 50 patients was recently published, which is consistent with the relative frequency of GATAD2B pathogenic variants in public databases. We report the detailed phenotype of 19 patients from various ethnic backgrounds with confirmed pathogenic GATAD2B variants including intragenic deletions. All individuals presented developmental delay with a median age of 2.5 years for independent walking and of 3 years for first spoken words. GATAD2B variant carriers showed very little subsequent speech progress, two patients over 30 years of age remaining non-verbal. ID was mostly moderate to severe, with one profound and one mild case, which shows a wider spectrum of disease severity than previously reported. We confirm macrocephaly as a major feature in GAND (53%). Most common dysmorphic features included broad forehead, deeply set eyes, hypertelorism, wide nasal base, and pointed chin. Conversely, prenatal abnormalities, non-cerebral malformations, epilepsy, and autistic behavior were uncommon. Other features included feeding difficulties, behavioral abnormalities, and unspecific abnormalities on brain MRI. Improving our knowledge of the clinical phenotype is essential for correct interpretation of the molecular results and accurate patient management.
Assuntos
Fatores de Transcrição GATA/genética , Deficiência Intelectual/genética , Transtornos do Neurodesenvolvimento/genética , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Pré-Escolar , Face/patologia , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Megalencefalia/diagnóstico por imagem , Megalencefalia/genética , Hipotonia Muscular/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/diagnóstico por imagem , Transtornos do Neurodesenvolvimento/fisiopatologia , Fenótipo , Gravidez , Proteínas Repressoras , Deleção de Sequência , Distúrbios da Fala/genéticaRESUMO
Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy. OBJECTIVE: To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC. DESIGN, SETTING AND PARTICIPANTS: This is a follow-up study conducted in Normandy (France). It included a cohort of 25 children born between January 1991 and June 2016, with a prenatal diagnosis of isolated ACC and who were followed for at least two years. RESULTS: The average follow-up was 8±5years. ACC was complete in 17 patients (68%), partial in 5 (20%) and hypoplastic in 3 (12%). Whereas global motor development was normal in each case, normal neurodevelopmental outcome or mild disabilities occurred in 88% children and moderate/severe neuro-disabilities were present in 12% of children. Wechsler Intelligence Scale for Children-IV evaluations and Intellectual Total Quotients were within normal range, but we observed lower scores in verbal comprehension, social judgment, executive functions. A lower score in morphosyntax was observed among 52% of children with oral language disorders. CONCLUSIONS: Neurodevelopmental outcome was favorable in most of our patients with isolated ACC, but mild learning disabilities emerged in older children. Long-term follow-up until school age is essential to provide early diagnosis and appropriate care support.
Assuntos
Agenesia do Corpo Caloso/diagnóstico , Agenesia do Corpo Caloso/etiologia , Deficiências do Desenvolvimento/etiologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Gravidez , Diagnóstico Pré-Natal , Psicometria/métodos , Distúrbios da Fala/etiologia , Escalas de WechslerRESUMO
OBJECTIVES: To describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle. METHODS: The registries of seven prenatal diagnosis centers were searched for cases with PF findings and a postnatal diagnosis of PS. All records were evaluated for ultrasound and MRI findings and the postnatal outcome. PS was diagnosed after birth according to the consensus statement on diagnostic criteria for PS from 2009. The imaging findings of the PS fetuses were compared to a group of consecutive cases with fetal UCH, whose postnatal diagnosis was not PS. RESULTS: The PS group included 10 fetuses. All were referred due to UCH accompanied by an ipsilateral retrocerebellar cyst. All pregnancies resulted in livebirths, all newborns had a large segmental facial hemangioma. In all PS fetuses the affected cerebellar hemisphere was upwardly displaced by an ipsilateral PF cyst communicating with an asymmetrically distended 4th ventricle. An upwardly rotated and deviated vermis merged with the contralateral cerebellar peduncles forming an elongated oblique connection between the cerebellar hemispheres, resulting in a unique cerebellar shape, "a tilted telephone receiver sign" (TTRS), on the coronal plane through the upper vermis.The non-PS group included 11 fetuses with UCH: clastic cerebellar lesions (8) and a unilateral PF arachnoid cyst (3). The TTRS was not depicted in any of them (p < 0.0005). CONCLUSIONS: The cerebellar TTRS is a specific fetal imaging feature of PHACES syndrome enabling its prenatal diagnosis.
Assuntos
Coartação Aórtica/diagnóstico por imagem , Cerebelo/patologia , Anormalidades do Olho/diagnóstico por imagem , Feto/diagnóstico por imagem , Síndromes Neurocutâneas/diagnóstico por imagem , Neuroimagem/métodos , Diagnóstico Pré-Natal/métodos , Coartação Aórtica/patologia , Cerebelo/diagnóstico por imagem , Anormalidades do Olho/patologia , Feminino , Feto/patologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Síndromes Neurocutâneas/patologia , Gravidez , Síndrome , Ultrassonografia Pré-Natal/métodosRESUMO
Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In patients with isolated hydrocephalus, L1CAM mutations represent the most common aetiology. More recently, a founder mutation has also been reported in the MPDZ gene in foetuses presenting massive hydrocephalus, but the neuropathology remains unknown. We describe here three novel homozygous null mutations in the MPDZ gene in foetuses whose post-mortem examination has revealed a homogeneous phenotype characterized by multiple ependymal malformations along the aqueduct of Sylvius, the third and fourth ventricles as well as the central canal of the medulla, consisting in multifocal rosettes with immature cell accumulation in the vicinity of ependymal lining early detached from the ventricular zone. MPDZ also named MUPP1 is an essential component of tight junctions which are expressed from early brain development in the choroid plexuses and ependyma. Alterations in the formation of tight junctions within the ependyma very likely account for the lesions observed and highlight for the first time that primary multifocal ependymal malformations of the ventricular system is genetically determined in humans. Therefore, MPDZ sequencing should be performed when neuropathological examination reveals multifocal ependymal rosette formation within the aqueduct of Sylvius, of the third and fourth ventricles and of the central canal of the medulla.
Assuntos
Proteínas de Transporte/genética , Epêndima/anormalidades , Doenças Fetais/genética , Hidrocefalia/genética , Mutação com Perda de Função , Adulto , Epêndima/diagnóstico por imagem , Família , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/etiologia , Doenças Fetais/patologia , Homozigoto , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Hidrocefalia/patologia , Proteínas de MembranaRESUMO
Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the antenatal presentation of a female foetus, in whom CHH was suspected from 23 weeks' gestation, leading to a medical termination of the pregnancy at 34 weeks gestation, and thereafter confirmed by morphological and molecular studies. Post-mortem examination confirmed short stature and limbs, and revealed thymic hypoplasia associated with severe CD4 T-cell immunodeficiency along with extensive non caseating epithelioid granulomas in almost all organs, which to our knowledge has been described only in five cases. Molecular studies evidenced on one allele the most frequently reported founder mutation NR_003051: g.70A>G, which is present in 92% of Finnish patients with Cartilage Hair Hypoplasia. On the second allele, a novel mutation consisting of a 10 nucleotide insertion at position -18 of the promoter region of the RMRP gene (M29916.1:g.726_727insCTCACTACTC) was detected. The founder mutation was inherited from the father, and the novel mutation from the mother. To our knowledge, this case report represents the first detailed foetal analysis described in the literature.
Assuntos
Feto Abortado/patologia , Cabelo/anormalidades , Doença de Hirschsprung/diagnóstico , Síndromes de Imunodeficiência/diagnóstico , Osteocondrodisplasias/congênito , RNA Longo não Codificante/genética , Feminino , Granuloma/diagnóstico , Cabelo/embriologia , Doença de Hirschsprung/embriologia , Doença de Hirschsprung/genética , Humanos , Síndromes de Imunodeficiência/embriologia , Síndromes de Imunodeficiência/genética , Inflamação/diagnóstico , Transtornos Leucocíticos/diagnóstico , Mutação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/embriologia , Osteocondrodisplasias/genética , Gravidez , Diagnóstico Pré-Natal , Doenças da Imunodeficiência PrimáriaRESUMO
We report a case of hypophosphatasia diagnosed using US and CT at 29 weeks' gestation and confirmed by molecular analysis. Prenatal US revealed very short fetal limbs and severe demineralization of the skull. The diaphyses were normal, but the metaphyses of the long bones appeared hyperechoic with no posterior shadowing. No fractures or long-bone deformations were observed. Three-dimensional helical CT performed at 29 weeks' gestation provided additional details of the abnormal bones, i.e. irregular and cupped metaphyses that were very similar to the radiological findings of hypophosphatasia described postnatally. To our knowledge, the description of hyperechoic metaphyses in hypophosphatasia is unique and is a consequence of abnormal mineralization of the metaphyses that is specific to this pathology.