Postnatal outcome of children with antenatal colonic hyperechogenicity.

OBJECTIVE: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with a more severe prognosis. METHOD: We carried out a French multi-centric retrospective study via 15 Multidisciplinary Center for Prenatal Diagnosis from January 2011 to January 2021. We included pregnancies for which fetal colonic hyperechogenicity had been demonstrated. We collected the investigations performed during pregnancy and at birth as well as the main clinical features of the mother and the child. We then established the prevalence of pathologies such as lysinuria-cystinuria (LC), hypotonia-cystinuria syndrome (HC), or lysinuric protein intolerance (LPI). RESULTS: Among the 33 cases of colonic hyperechogenicity collected, and after exclusion of those lost to follow-up, we identified 63% of children with lysinuria-cystinuria, 8% with lysinuric rotein intolerance, and 4% with hypotonia-cystinuria syndrome. CONCLUSION: Management of prenatal hyperechoic colon should include a specialized consultation with a clinical geneticist to discuss further investigations, which could include invasive amniotic fluid sampling for molecular diagnosis. A better understanding of diagnoses and prognosis should improve medical counseling and guide parental decision making.

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with neurodevelopmental delay. In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract.

Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age. Case presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis. A c.1351G > A (p.Asp451Asn) hemizygous mutation in OCRL gene was identified, inherited from the mother, which led to the diagnosis of Lowe syndrome in the fetus. Conclusions: This is the first case of Lowe syndrome diagnosed prenatally on an isolated cataract, which allows the discussion of a more extensive etiological research when a male fetus is diagnosed with isolated bilateral cataract, by including notably a systematic analysis of the OCRL gene.

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs' proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.

Canal of Nuck Abnormalities in Pediatric Female Patients.

A groin lump is not an uncommon condition in girls and female infants, and US plays a fundamental role in its exploration. The main pathologic conditions are related to the failure of obliteration of the canal of Nuck. Radiologists should gain a full understanding of the embryology and US anatomy of the inguinal canal before assessing this entity for the first time. An optimal age-adjusted US technique-including examinations at rest and during straining-is essential to help assess the canal of Nuck, diagnose a hernia, and analyze its content. The radiologist must be aware of the various types of hernial content depending on the patient's age, including intestinal, omental, ovarian, or tubouterine hernia, and the US features of each. Incarcerated hernias are common in girls and mostly contain an ovary. In such cases, it is crucial to screen for US signs suggestive of ovarian ischemic damage, thereby calling for urgent surgery. US can also depict a cyst or hydrocele of the canal of Nuck and its complications. Moreover, other rare pathologic conditions involving the inguinal area may be depicted at US, which helps guide appropriate treatment. US is the ideal modality for evaluating an inguinal lump in girls and female infants. Online supplemental material is available for this article. ©RSNA, 2022.

Dysplasia Epiphysealis Hemimelica Presenting as Multiple Loose Bodies: A Case Report.

CASE: A 11-year-old boy with no medical history presented with a protective limp and worsening mechanical pain in his left knee. No recent traumatic or infectious history was reported. Radiographs and ultrasonography showed multiple intra-articular loose bodies with osteocartilaginous signal. Dysplasia epiphysealis hemimelica (DEH) was confirmed by magnetic resonance imaging (MRI) and computed tomography (CT) scan. This is the first report that describes the presence of loose bodies in a knee without previous surgery as a possible case of DEH. CONCLUSION: We emphasize the use of CT scan and MRI before any surgical procedure when intra-articular loose bodies are unexpectedly discovered.

Near-Infrared Spectroscopy: A Tool for Diagnosing Necrotizing Enterocolitis at Onset of Symptoms in Preterm Neonates with Acute Gastrointestinal Symptoms?

OBJECTIVE: In premature neonates, bloody stools and/or abdominal distension with feeding intolerance may be inaugural signs of necrotizing enterocolitis (NEC). We assessed the ability of near-infrared spectroscopy (NIRS) to distinguish those neonates with NEC soon after the occurrence of these symptoms. STUDY DESIGN: We prospectively collected NIRS measurements of abdominal and cerebral regional tissue oxygen saturation (r-SO2), with values masked by an opaque cover. Two physicians, blinded to the NIRS data, determined whether the gastrointestinal symptoms were related to NEC 10 days after symptom onset. RESULTS: Forty-five neonates with mean (standard deviation [SD]) gestational, birth weight and postnatal ages of 31 (3.9) weeks, 1,486 (794) g, and 18 (14) days were enrolled over 30 months. Gastrointestinal symptoms were related to NEC in 23 patients and associated with other causes in 22. Analysis of the 48 hours of monitoring revealed comparable abdominal r-SO2 and splanchnic-cerebral oxygenation ratio (SCOR) in patients with and without NEC (r-SO2: 47.3 [20.4] vs. 50.4 [17.8], p = 0.59, SCOR: 0.64 [0.26] vs. 0.69 [0.24], p = 0.51). Results were unchanged after NIRS analysis in 6-hour periods, and restriction of the analysis to severe NEC (i.e., grade 2 and 3, 57% of the NEC cases). CONCLUSION: In this study, NIRS monitoring was unable to individualize NEC in premature infants with acute gastrointestinal symptoms.

Solitary Median Maxillary Central Incisor due to Nasal Pyriform Aperture Stenosis in Fetus: The First Prenatal Ultrasound Case Report.

BACKGROUND: The single median incisor is a rare dental abnormality that could be isolated or could be part of many different syndromes or syndromic association with poor prognosis. CASE DESCRIPTION: We report the first prenatal ultrasound description of a 31-year-old patient, gravida 1, para 0, whose male fetus was diagnosed at 25 weeks' gestation with a single median incisor suggestive of nasal pyriform aperture stenosis in Montpellier University Hospital (France). A fetal magnetic resonance imaging (MRI) performed at 30 weeks' gestation retrieved no intracranial midline cerebral anomalies and confirm nasal pyriform aperture stenosis suspicion. Amniocentesis, performed at 31 weeks, found a normal fetal karyotype (46XY) and a normal comparative genomic hybridization (CGH) array. After term vaginal delivery, clinical and radiological examination confirmed the diagnosis of an isolated single median maxillary central incisor linked to nasal pyriform aperture stenosis. CONCLUSION: Prenatal diagnosis of a single median incisor due to nasal pyriform aperture stenosis is feasible and enables close postnatal follow-up. HOW TO CITE THIS ARTICLE: Fuchs F, Chadelle M, Captier G, et al. Solitary Median Maxillary Central Incisor due to Nasal Pyriform Aperture Stenosis in Fetus: The First Prenatal Ultrasound Case Report. Int J Clin Pediatr Dent 2020;13(3):295-298.

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia, and preaxial polydactyly. We report two novel PITX1 missense variants, altering PITX1 transactivation ability, in three individuals from two unrelated families showing a distinct recognizable autosomal dominant syndrome, including first branchial arch, pelvic, patellar, and male genital abnormalities. This syndrome shows striking similarities with the Pitx1-/- mouse model. A partial phenotypic overlap is also observed with Ischiocoxopodopatellar syndrome caused by TBX4 haploinsufficiency, and with the phenotypic spectrum caused by SOX9 anomalies, both genes being PITX1 downstream targets. Our study findings expand the spectrum of PITX1-related disorders and suggest a common pattern of developmental abnormalities in disorders of the PITX1-TBX4-SOX9 signaling pathway.

Reference Values for Abdominal Circumference in Premature Infants.

Objectives: Abdominal distention is a common indicator of feeding intolerance in premature newborns. In the absence of a precise definition, abdominal distention and its degree are highly subjective. The aim of this study was to construct references and smoothed percentiles for abdominal circumference (AC) and AC to head circumference (HC) ratio (AC/HC) in infants born between 24 weeks and 34 weeks of gestational age. Methods: ACs and HCs were collected weekly in eutrophic premature infants without congenital abdominal or cerebral malformation. AC and HC charts were modeled using the LMS method, excluding measures associated with abdominal distention at clinical examination or intracranial abnormality at cerebral ultrasounds. Changes in AC and AC/HC over time were studied by repeated-measures analysis using mixed-effects linear models. Results: A total of 1,605 measurements were made in 373 newborns with a mean gestational age of 31 [29-33] weeks and mean birth weight of 1,540 [1,160-1,968] g. Of these measurements, 1,220 were performed in normal conditions. Gestational age, postnatal age, singleton status, and respiratory support were significantly associated with AC and AC/HC. LMS curves were generated according to gestational age groups and postnatal age, with coherent profiles. AC/HC was 0.91 [0.86-0.95] in absence of abdominal distention. It was higher in cases of abdominal distention (0.95 [0.89-1.00], p < 0.001) and necrotizing enterocolitis (0.98 [0.93-1.07], p < 0.001). Conclusions: References constructed for AC and AC/HC might be used to assess feeding tolerance in premature infants. AC/HC was more relevant than AC to rationalize the diagnosis of abdominal distention.

Prenatal diagnosis of antenatal midgut volvulus: Specific ultrasound features.

OBJECTIVE: To assess specific, direct, and indirect prenatal ultrasound features in cases of fetal midgut volvulus. METHODS: Retrospective case series of neonatal volvulus, based on postnatal and prenatal imaging findings that occurred from 2006-2017. Prenatal and postnatal signs including the specific "whirlpool sign" were computed. Postnatal volvulus was confirmed by pathology examination after surgery or neonatal autopsy. RESULTS: Thirteen cases of midgut volvulus were identified. Though not a specific sign, a decrease in active fetal movements was reported in eight patients (61.5%). The prenatal whirlpool sign was directly seen in 10 cases, while an indirect but suggestive sign, a fluid-filled level within the dilated loops, was present in five cases. No intestinal malrotation was observed. Pregnancy outcomes were two terminations of pregnancy, both associated with cystic fibrosis, one early neonatal death, three prenatal spontaneous regressions, and seven favorable outcomes after neonatal surgery with resection of midgut atresia. CONCLUSIONS: Identification of the whirlpool sign or of a fluid-filled level within the dilated loops improves the accuracy of ultrasound findings for suspected volvulus. In the absence of total volvulus (in cases of intestinal malrotation) or association with cystic fibrosis, the prognosis appears good.

Prenatal and postnatal evolution of isolated fetal splenic cysts.

OBJECTIVES: The aim of this study was to evaluate the prevalence, the prenatal, and postnatal evolution of isolated fetal splenic cysts. METHODS: All cases of suspected fetal splenic cyst or abdominal unidentified cyst discovered during routine ultrasound scan, from 2007 to 2017, and referred to a French tertiary care center, were retrospectively collected. For each case, several prenatal parameters and postnatal evolution were reported. RESULTS: Among 5450 cases of fetal anomalies, 14 patients (0.3%) had a prenatal diagnosis of fetal splenic cysts. Median gestational age at diagnosis was 30.1 weeks. A unique cyst was present in 78.6%, whereas 2 cysts were observed in 14.3% and 3 cysts in 7.1%. During the pregnancy, cysts remained the same (78.6%) or disappeared (21.4%). Ultrasound scans at 6 months of age found total disappearance of the cysts (36.4%), spontaneous reduction from 2 to 1 cyst (18.2%) or persistence of the cysts (45.4%). CONCLUSION: Fetal splenic cysts are rare images, always isolated, usually unique and mainly found during third trimester of pregnancy. Their evolution is to disappear spontaneously during pregnancy or at 6 months of age leaving only half of them to remain beyond that age but without any symptoms.

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be associated with the syndrome.MethodsMolecular diagnosis involved whole-exome and gene-panel sequencing. RESULTS: All sequenced patients showed a unique homozygous mutation of c.667G>A, p.Gly223Ser (NM_012200) in the beta-1,3-glucuronyltransferase 3 (B3GAT3) gene known to be involved in linkeropathy syndrome. Linkeropathies correspond to a recently identified group of heterogeneous genetic syndromes along a spectrum of skeletal and connective tissue disorders. These patients featured mainly craniosynostosis, midface hypoplasia, bilateral radioulnar synostosis, multiple neonatal fractures, dislocated joints, joint contracture, long fingers, foot deformity, and cardiovascular abnormalities. All died before 1 year of age.ConclusionWe identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome.

Does prenatal MRI enhance fetal diagnosis of intra-abdominal cysts?

OBJECTIVE: The aim of this study was to evaluate the contribution of prenatal magnetic resonance imaging (MRI) to ultrasound (US) in the prenatal diagnosis of intra-abdominal cystic masses, correlated with the postnatal diagnosis. METHODS: In this retrospective, observational study, prenatal MRI and US diagnoses were compared with postnatal diagnoses. MRI was performed in 56 fetuses with intra-abdominal cyst diagnosed by US between 2004 and 2013. Final diagnosis, revealed by postnatal evaluation, was obtained for 49 of them and was taken as the reference. MRI was evaluated as superior, equal, or inferior to US. RESULTS: An accurate diagnosis was provided by US in 25 cases (51%) and by MRI in 36 out of the 49 cases (73.4%). MRI corrected the US diagnosis in 13 cases (26.5%) by providing a more precise localization or additional etiologic information. In two cases (4%), MRI wrongly changed the diagnosis correctly made by US. CONCLUSION: Prenatal MRI better characterized the nature of abdominal cystic lesions previously diagnosed by US in 13 cases. This enhanced postnatal therapeutic planning and so improved parental counseling and pregnancy management.

Thrombosis of torcular herophili: diagnosis, prenatal management, and outcome.

OBJECTIVES: The objective of this article is to describe and assess prenatal imaging findings, fetal and postnatal outcomes of thrombosis of torcular herophili, and to determine diagnostic features, pathophysiology, prognosis, and optimal management. METHODS: Over a decade, we compiled the largest single-center retrospective study of outcomes. Fetal magnetic resonance imaging (MRI) was used to confirm the sonographic suspicion and monitor thrombosis of torcular herophili. We noted prenatal and postnatal imaging specifications, pregnancy outcomes, and clinical and radiological pediatric monitoring. Analysis of findings and review of the literature allowed us to define prognostic factors. RESULTS: In eight cases of prenatal diagnosis of thrombosis of torcular herophili, MRI outcomes were specific. There were five deliveries at full term, two terminations of pregnancy, and one fetal demise in utero. Neonates had a good clinical and radiological outcome. Factors of poor prognosis were deep venous sinus thrombosis, enduring mass effect, brain parenchymal injury, and heart failure related to dural arteriovenous shunt. CONCLUSION: Among dural sinus malformations, thrombosis of torcular herophili with or without extension at the posterior segment of the longitudinal sinus frequently has a good prognosis. It is urgent to wait because the prognosis can only be ascertained over time by means of ultrasound scan and MRI monitoring.

Management of mediastinal syndromes in pediatrics: a new challenge of ultrasound guidance to avoid high-risk general anesthesia.

Adverse events associated with anesthetic management of anterior mediastinal masses in pediatrics are common. To avoid an extremely hazardous general anesthesia, the use of real-time ultrasonography offers an effective alternative in high-risk cases. We report the anesthetic management including a light sedation and ultrasound guidance for regional anesthesia, surgical node biopsy, and placement of a central venous line in two children with an anterior symptomatic mediastinal mass. For pediatric patients with clinical and/or radiologic signs of airway compression, ultrasound guidance provides safety technical assistance to avoid general anesthesia and should be performed for the initial diagnostic and therapeutic procedures.

Atypical pneumonia linked to community-acquired staphylococcus aureus cross-transmission in the nursery.

We report the observation of a necrotizing pneumonia due to methicillin-resistant Staphylococcus aureus harboring the Panton-Valentine leukocidin-encoding gene in a previously healthy neonate, with favorable clinical outcome in spite of extensive radiologic lesions. The case was linked to a cluster of 3 neonates colonized by Panton-Valentine leukocidin-producing, methicillin-resistant S. aureus through cross-transmission in the nursery, underlining the need to comply with standard infection control precautions in the maternity ward.

Liver-to-thoracic volume ratio: use at MR imaging to predict postnatal survival in fetuses with isolated congenital diaphragmatic hernia with or without prenatal tracheal occlusion.

OBJECTIVE: To evaluate the relationship of the liver-to-thoracic volume ratio (LiTR) by MRI with postnatal survival in foetuses with isolated congenital diaphragmatic hernia (CDH). METHODS: In 30 conservatively managed CDH foetuses and in 31 who underwent fetoscopic endoluminal tracheal occlusion (FETO), logistic regression analysis was used to investigate the effect on postnatal survival of the observed-to-expected (O/E) ratio of total foetal lung volume (TFLV), LiTR, gestational age at delivery, CDH side, intrathoracic position of the liver and, for those who underwent FETO, gestational age at FETO and occlusion period. For 19 foetuses undergoing FETO, a post-FETO MRI was available. The proportionate increase in O/E ratio of TFLV at 3-8 weeks after FETO was compared with the pre-FETO value and correlated with pre-FETO LiTR using linear regression analysis. RESULTS: For conservatively managed foetuses, only LiTR provided a significant prediction of postnatal survival. For foetuses undergoing FETO, LiTR and gestational age at delivery provided a significant independent prediction of postnatal survival. There was a significant inverse association between lung response and pre-FETO LiTR. CONCLUSION: In foetuses with CDH with/without FETO treatment, the LiTR is predictive of postnatal survival at discharge. In foetuses treated with FETO, LiTR is predictive of post-FETO lung response. KEY POINTS: • Congenital diaphragmatic hernia is usually managed conservatively before surgery soon after delivery • Fetoscopic endoluminal tracheal occlusion (FETO) has been introduced for severely affected foetuses • In conservatively managed CDH, the liver-to-thoracic volume ratio (LiTR) predicted postnatal survival best. • In severe CDH with prenatal FETO, LiTR also helped predict postnatal survival. • LiTR should be integrated into the prenatal decision-making for foetuses with CDH.