A case report of VACTERL syndrome (anorectal, cardiac and renal malformations)

Pediatru ro ◽  
2021 ◽  
Vol 2 (1) ◽  
pp. 46-49
Author(s):  
Emilia Pop ◽  
Alina Grama ◽  
Alexandra Mititelu ◽  
Claudia Simu ◽  
Patricia Lorinţiu ◽  
...  
Keyword(s):  
Septal Defect ◽  
Rare Condition ◽  
Male Infant ◽  
Complex Spectrum ◽  
Vacterl Association ◽  
Severe Metabolic Acidosis ◽  
Renal Anomalies ◽  
Case Presentation ◽  
Renal Malformations ◽  
The Right

Introduction. VACTERL is a rare condition, named after the spectrum of malformations characterizing it: vertebral/vas­cu­lar anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, limb ano­ma­lies. Case presentation. We report the case of a male infant who presented in our clinic with the suspicion of inborn error of metabolism due to the severe metabolic acidosis and hypoglycemia. He was operated in the second day of life for imperforate anus and rectoperineal fistula. The radiological examination revealed severe bronchopneumonia for which he required antibiotic treatment and electrolyte infusions for the correction of the acidosis. Starting from the anorectal anomalies, we performed imagistic investigations that detected atrial septal defect and unilateral kidney agenesis. Based on the presence of three specific anomalies, we could establish the diagnosis of VACTERL association and we started the supportive treatment. Conclusions. VACTERL association is a complex spectrum of malformations, some of them with high mortality if they are not corrected on the right moment.

scholarly journals Tubocutaneous Fistula

2015 ◽  
Vol 2015 ◽  
pp. 1-2
Author(s):  
Krishnaveni Nayini ◽  
Clive Gie
Keyword(s):  
Early Diagnosis ◽  
Pelvic Inflammatory Disease ◽  
Inflammatory Disease ◽  
Fistulous Tract ◽  
Rare Condition ◽  
Diagnosis And Treatment ◽  
Case Presentation ◽  
Child Birth ◽  
The Right

Introduction. Tubocutaneous fistula is a very rare condition; most cases described in the literature are secondary to endometriosis, tuberculosis, and complications of child birth and gynecological operations.Case Presentation. We report a case of 40-year-old woman who presented with tubocutaneous fistula secondary to pelvic inflammatory disease which was diagnosed in the setting of persistent discharging wound in the right groin.Conclusion. Tubocutaneous fistula is a rare condition. Salpingectomy and resection of fistulous tract is the treatment of choice as is treating the underlying cause. Early diagnosis and treatment of these patients are essential for avoiding long term complications.

scholarly journals Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

2021 ◽  
Vol 9 ◽  
Author(s):  
Guan-nan He ◽  
Xue-yan Wang ◽  
Min Kang ◽  
Xi-min Chen ◽  
Na Xi ◽  
...  
Keyword(s):  
Septal Defect ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Splice Donor ◽  
Autosomal Dominant Disorder ◽  
Cubitus Valgus ◽  
Case Presentation ◽  
Whole Exome ◽  
The Right ◽  
Tbx5 Gene

Background: Holt–Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to supinate the hands, absence of the right thumb, and heart ventricular septal defect (VSD), while the fetal father exhibited VSD and short radius and ulna only. Fetal brother had cubitus valgus and thumb adduction, except for VSD, short radius and ulna. The pregnancy was terminated. Whole-exome sequencing (WES) revealed a novel mutation in the TBX5 (c.510+1G>A) in the fetus inherited from the father. The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing. It was not previously reported in China.Conclusion: Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.

scholarly journals An Ectopic Breast Tissue Presenting with Fibroadenoma in Axilla

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Anandhi Amaranathan ◽  
Kanchana Balaguruswamy ◽  
Ramachandra V. Bhat ◽  
Manash Kumar Bora
Keyword(s):  
Breast Tissue ◽  
Cardiac Anomaly ◽  
Excision Biopsy ◽  
Rare Entity ◽  
Renal Anomalies ◽  
Case Presentation ◽  
The Past ◽  
Ectopic Breast Tissue ◽  
The Right ◽  
Ectopic Breast

Introduction. The congenital anomalies of breast, especially the polymastia (supernumerary breast) and polythelia (supernumerary nipple), always do not fail to amuse the clinicians because of their varied presentations, associated renal anomalies, and pathologies arising from them. The axillary polymastia is a variant of ectopic breast tissue (EBT). Ectopic breast tissue can undergo the same physiological and pathological processes as the normally located breast. The incidence of fibroadenoma developing in ectopic breast is reported as a rare entity, the most common being the carcinoma.Case Presentation. A 31-year-old Dravidian female presented with a lump of 4 cm in the right axilla for the past year which gradually increased in size, giving discomfort. Our initial differential diagnosis was fibroadenoma, lipoma, and lymphadenopathy. Further investigation and histopathological report of excision biopsy confirmed it as a fibroadenoma on ectopic breast tissue in the axilla. Patient has no associated urological or cardiac anomaly.Conclusion. This case has been reported for its rarity and to reemphasise the importance of screening of EBT for any pathology during routine screening of breast.

VACTERL Association With High Prenatal Lead Exposure: Similarities to Animal Models of Lead Teratogenicity

PEDIATRICS ◽  
1991 ◽  
Vol 87 (3) ◽  
pp. 390-392
Author(s):  
FRED LEVINE ◽  
MAXIMILIAN MUENKE
Keyword(s):  
Septal Defect ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Cardiac Defect ◽  
Distinct Entity ◽  
Renal Anomalies ◽  
Live Births ◽  
Vertebral Anomalies ◽  
Definition Of ◽  
Prenatal Lead Exposure

The VACTERL association is one of the more common patterns of multiple malformations in children, with an incidence of approximately 1.6 cases per 10 000 live births.1 The pattern of defects consists of vertebral anomalies (found in 70% of patients), anal atresia with or without fistula (80%), cardiac defect (50%) with ventricular septal defect being most common, tracheoesophageal fistula (70%), renal anomalies (53%), and limb anomalies (65% with radial anomalies and 23% with lower extremity defects).2 The definition of the VACTERL association as a distinct entity is based on the finding that its constituent anomalies are associated in a nonrandom manner.1,3,4

Holt–Oram syndrome with aortopulmonary window – a rare association

2013 ◽  
Vol 24 (5) ◽  
pp. 947-949
Author(s):  
Sunil K. Srinivas ◽  
Vijayalakshmi I. Balekundri ◽  
Cholenahally N. Manjunath
Keyword(s):  
Upper Limb ◽  
Septal Defect ◽  
Male Infant ◽  
Aortopulmonary Window ◽  
Secundum Atrial Septal Defect ◽  
Device Closure ◽  
X Ray ◽  
Rare Association ◽  
Absent Radius ◽  
The Right

A 4-month-old male infant presented with recurrent cough for 2 months. He had a shortened right upper limb with absent right thumb and continuous murmur in the left parasternal area. The X-ray showed an absent radius and the first metacarpal and phalyngeal bones on the right side. Echocardiogram revealed aortopulmonary window and small secundum atrial septal defect. Aortopulmonary window was successfully treated by device closure. Holt–Oram syndrome with aortopulmonary window is an extremely rare association.

scholarly journals A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Young Dong Yu ◽  
Young Kwon Hong
Keyword(s):  
Undescended Testis ◽  
Vas Deferens ◽  
Renal Agenesis ◽  
Renal Anomalies ◽  
Abdominal Ultrasonography ◽  
Case Presentation ◽  
Ultrasound Study ◽  
The Status ◽  
The Right ◽  
Urology Clinic

Introduction and Aims. Congenital absence of the vas deferens is an uncommon anomaly and this clinical condition is responsible for up to 1-2% of male infertility. It can be either unilateral or bilateral and the associated anomalies include cryptorchidism, seminal vesicles and ejaculatory ducts anomalies, and renal anomalies such as renal agenesis. We hereby present a case of congenital unilateral absence of vas deferens, which was found incidentally during an evaluation of undescended testis in a patient with ipsilateral renal agenesis.Case Presentation. A 10-month-old boy was referred to the urology clinic with an undescended right testis. Preoperative abdominal ultrasonography showed agenesis of the right kidney and the absence of right vas deferens and epididymis was confirmed during laparoscopic orchiectomy performed due to short right spermatic cord. There were no other concomitant anomalies of the genitourinary system observed in evaluation.Conclusion. Congenital unilateral absence of the vas deferens with cryptorchidism and renal agenesis is a rare diagnostic entity. Cryptorchidism or absent vas deferens found incidentally should lead the physician to evaluate the status of the contralateral vas deferens and conduct a renal tract ultrasound study.

The Case of the Missing Nose: Congenital Arhinia Case Presentation and Management Recommendations

2020 ◽  
Vol 129 (7) ◽  
pp. 645-648
Author(s):  
Andrew K. Fuller ◽  
Hilary C. McCrary ◽  
M. Elise Graham ◽  
Jonathan R. Skirko
Keyword(s):  
Neonatal Period ◽  
Rare Condition ◽  
Male Infant ◽  
Nasal Patency ◽  
Review Of The Literature ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Magnetic Resonance Imaging Mri ◽  
Management Recommendations ◽  
Work Up

Objectives: To discuss the presentation and management of infants with arhinia or congenital absence of the nose. Methods: This case report describes an infant with arhinia that was diagnosed prenatally. In addition to a discussion of the case, a review of the literature was completed to define appropriate postnatal work-up and management. Results: The patient is a term male infant, diagnosed with arhinia on ultrasound and magnetic resonance imaging (MRI) performed at 21-weeks gestational age. Upon birth, the patient was subsequently intubated, followed by tracheostomy due to complete nasal obstruction. Through a genetics evaluation, the patient was found to be heterozygous for the SMCHD1 gene, with hypomethylation at the D4Z4 locus. Plans for reconstruction will be based on future imaging and the development of any nasal patency, however, the patient’s family plans to utilize a prosthetic nose until the patient is older. Conclusion: Arhinia is a rare condition causing respiratory distress in the neonatal period. While stabilization of the airway is the first priority, further management is not clearly defined given the rarity of the malformation. This case discusses stabilization of the airway with a review of treatment and reconstructive options.

scholarly journals Tumor-induced osteomalacia: a case report

2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Khalid Aligail ◽  
Joel A. Dave ◽  
Ian Louis Ross
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Serum Alkaline Phosphatase ◽  
Rare Condition ◽  
Fragility Fractures ◽  
High Serum ◽  
Mixed Ancestry ◽  
Mineral Density ◽  
Case Presentation ◽  
The Right

Abstract Background Tumor-induced osteomalacia is a rare, acquired paraneoplastic syndrome, including hypophosphatemia, high serum alkaline phosphatase, reduced active vitamin D, suboptimal bone mineral density, bone pain, fragility fractures, and muscle weakness. Case presentation We report a case of 74–year–old male of mixed ancestry with hypophosphatemia resistant to treatment despite optimal compliance, associated with profound reduction of bone mineral density and multiple nontraumatic fractures, including bilateral rib fractures, lower-thoracic (T11, T12) vertebrae, and two fractures involving the surgical and anatomical neck of the right humerus. We discuss an approach to identifying the underlying cause of hypophosphatemia associated with fragility fractures, and options for management of this rare condition. Conclusion Although rare, tumor-induced osteomalacia can be diagnosed if a logical stepwise approach is implemented. Surgery could be curative if the tumor is properly located and is resectable.

scholarly journals Subdiaphragmatic Renal Ectopia: Case Report and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Eleftherios Zolotas ◽  
Rajesh G. Krishnan
Keyword(s):  
Blood Pressure ◽  
Renal Function ◽  
Male Infant ◽  
Postnatal Life ◽  
Review Of The Literature ◽  
Mri Scan ◽  
Case Presentation ◽  
Renal Ectopia ◽  
The Right ◽  
Anatomical Defects

Background. We report the case of a male infant whose right kidney migrated to an ectopic position after birth. The migration of a kidney in postnatal life without any symptoms has not been reported in literature so far.Case Presentation. In a series of antenatal and the first postnatal ultrasound scans, the right kidney was normally located within the right renal fossa. During the first 3 months of life, the kidney migrated to a subdiaphragmatic position. This was confirmed on MRI scan. The infant was asymptomatic with normal renal function and blood pressure.Conclusion. Postnatal migration of a kidney has been described in cases of diaphragmatic hernia or nephroptosis. In this report, we describe a case of kidney migration where there were no underlying anatomical defects to provide an explanation for the kidney migration. This is the first report in literature of a case of postnatal migration of a kidney.

scholarly journals CBCT Evaluation in a Growing Patient With Mandibular Asymmetry Treated With Rapid Palatal Expander and Frankel-III. Case Report.

2021 ◽  
Author(s):  
Monica Macrì ◽  
Fabiola Rendina ◽  
Giada Perrella ◽  
Felice Festa
Keyword(s):  
Rare Condition ◽  
Cone Beam ◽  
Case Presentation ◽  
Mandibular Growth ◽  
Mandibular Asymmetry ◽  
Compensation Mechanisms ◽  
Significant Regression ◽  
The Right ◽  
Fränkel Iii ◽  
Cephalometric Measurements

Abstract BackgroundThis study aims to evaluate the development and the compensation mechanisms of the mandibular asymmetry in a growing patient, using Cone Beam Computed Tomography (CBCT). In this case, the menton was deviated on the right, an extremely rare condition, which may be the consequence of a disorder in the mandibular growth. Case presentationThe patient was treated with Rapid Palatal Expander (RPE) and Fränkel Functional Regulator III (FR-3). The initial CBCT was acquired at the beginning of therapy, when patient was 8 years old (y.o), the final CBCT was acquired at the end of the treatment, when patient was 12 y.o. Patient’s CBCT was performed with the head oriented according to the Natural Head Position (NHP); the NHP is a physiological and reproducible posture defined for morphological analysis.The 3D image of the cranium was oriented in the Dolphin software according to NHP posture; the cephalometric measurements were performed in frontal, laterolateral right and left, posteroanterior and submentovertex views in the aforementioned software. The therapy lasted 3.8 years and ended with a significant regression of the mandibular asymmetry from moderate grade (4.2 mm) to slight grade (1.3 mm). Conclusion The left hemi-mandible has grown more than right side, in accordance with the literature, which affirm that in case of deviation of the menton greater than 4 mm, the bone volume increases on the nondeviated side.

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