scholarly journals A CASE REPORT: PRENATAL DIAGNOSIS OF FETAL CARDIAC RHABDOMYOMA

2021 ◽  
Vol 5 (3) ◽  
Author(s):  
Tan Kui Foung ◽  
Mohd Aznan Md. Aris ◽  
Norhayaty Sharman Khamis Roslee
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Rare Disease ◽  
Cardiac Rhabdomyoma ◽  
Antenatal Ultrasound ◽  
Paediatric Cardiologist ◽  
Round Shape ◽  
Antenatal Ultrasonography

Fetal cardiac rhabdomyoma is a rare disease, and most of the cases are detected incidentally during the antenatal ultrasound. This is a case discovered during antenatal ultrasonography at 29 weeks of gestation. Multiple hyperechoic round shape masses were seen in the cardiac. After birth, the baby had been under a paediatric cardiologist follow-up with regular echocardiography. Management was mainly conservative at the time being as there was no sign of obstruction.

scholarly journals Posttraumatic Intramuscular Nodular Fasciitis in a 7-Year-Old Boy: Case Report and Review of the Literature

2021 ◽  
pp. 1-4
Author(s):  
Markus Denzinger ◽  
Markus Denzinger ◽  
Sandra Steininger ◽  
Niels Zorger ◽  
Patricia Reis Wolfertstetter ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Complete Resection ◽  
Primary Resection ◽  
Histopathological Diagnosis ◽  
Nodular Fasciitis ◽  
Pectoralis Muscle ◽  
Conservative Approach ◽  
Review Of The Literature

Nodular fasciitis is a rare disease, and its diagnosis is difficult. We present a case report of a seven-year-old child with progredient swelling of the left pectoralis muscle three weeks after trauma. After histopathological diagnosis, we performed complete resection. Normally, a conservative approach with regular follow-up is regarded as appropriate since nodular fasciitis does have the capability to regress spontaneously. Since recent publications indicate the possibility of malignant transformation, the complete primary resection also has to be discussed as therapy of choice.

scholarly journals Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience

2017 ◽  
Vol 5 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Hana Bejiqi
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Fetal Echocardiography ◽  
Tumour Size ◽  
Primary Tumour ◽  
Postnatal Period ◽  
Single Centre ◽  
Cardiac Rhabdomyoma ◽  
Ultrasound Evaluation

BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

Prenatal diagnosis and follow up of congenital splenic cyst: a case report

2001 ◽  
Vol 17 (5) ◽  
pp. 439-441 ◽  
Author(s):  
M. A. B. Lopes ◽  
R. Ruano ◽  
V. Bunduki ◽  
S. Miyadahira ◽  
M. Zugaib
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Splenic Cyst

scholarly journals Neurodegeneration with cerebral iron accumulation: a case report

2021 ◽  
Author(s):  
Monalisa Moura Saito ◽  
Dhyego Ferreira Moreira de Lacerda ◽  
Ana Claudia Marque Gouveia de Melo ◽  
Lucas Monteiro Barros Nunes ◽  
Luana Cristina Rodrigues de Oliveira Costa ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Movement Disorders ◽  
Retinal Dystrophy ◽  
Rapid Onset ◽  
Clinical Findings ◽  
Iron Accumulation ◽  
Significant Clinical Improvement ◽  
The Brain

Introduction: NBIA is a rare disease, with a prevalence of 1/1,000,000.It is characterized by abnormal iron accumulation. Clinical findings may include progressive extrapyramidal disorders, involvement of the pyramidal, peripheral, autonomic nervous systems, superior cortical, visual and cerebellar functions. The diagnosis is made through the association of clinical findings and complementary exams. Currently, the treatment is only symptomatic, with no specific therapy. Case report: 5-year-old female, reporting involuntary movements and difficulty walking a day ago. Presented agitation and delayed neuropsychomotor development, seen since 1 year of age. On examination, dysarthria, dystonia and parkinsonian stiffness were observed. MRI of the brain showed the radiological signal “tiger’s eye” and the ophthalmological evaluation showed retinal dystrophy. Positive acanthocyte screening. NBIA’s NGS panel confirmed the diagnosis. Triexfenid was started and there was an improvement in movement disorders. In outpatient follow-up, the symptoms worsened. Levodopa was associated with the return of walking without support and ability to pick up objects. Discussion: In this case, Triexafenid 2mg/day was initially prescribed, with a slight improvement in movement disorders. Levodopa was started with the aim of improving symptoms of parkinsonian stiffness. The excellent response to the association of the drug in low doses stands out, enabling ambulation and functionality for daily activities. Conclusion: NBIA is a rare disease, with rapid onset and progression. Studies show limited benefits of levodopa in the case of PKAN. We emphasize significant clinical improvement, with a return to walking after administration of the drug.

Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

2008 ◽  
Vol 51 (2) ◽  
pp. 115-117 ◽  
Author(s):  
Anita S. Kulharya ◽  
Mary E. Carlin ◽  
William A. Stettler ◽  
Martine Huslig ◽  
Mary K. Kukolich ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
De Novo ◽  
Partial Trisomy

scholarly journals Isolated Double Aortic Arch (Daa) – Prenatal Detection with Postnatal Follow-Up, Case Report and Literature Review

2018 ◽  
Vol 8 (1) ◽  
pp. 64-70
Author(s):  
Julia Murlewska ◽  
Agnieszka Żalińska ◽  
Danuta Roik ◽  
Bożena Werner ◽  
Maria Respondek-Liberska
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Literature Review ◽  
Aortic Arch ◽  
Clinical Symptoms ◽  
Double Aortic Arch ◽  
Computer Reconstruction ◽  
Prenatal Detection ◽  
Angio Ct

Abstract This case report presents a prenatal diagnosis with postnatal confirmation (by angio CT and computer reconstruction) of an isolated double aortic arch, with no blood disturbances and with no clinical symptoms after birth. Literature review was focusing on the possible symptoms in the future. Prenatal findings should be forwarded to neonatologist and pediatrician despite clinical silence.

Prenatal diagnosis of cardiac rhabdomyoma case report

MOJ Surgery ◽  
2019 ◽  
Vol 7 (1) ◽  
Author(s):  
Illia R ◽  
Engel H ◽  
Guallan F ◽  
Faganello A ◽  
Lopez SV
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Cardiac Rhabdomyoma

scholarly journals Adams-Oliver syndrome: Case report

2011 ◽  
Vol 139 (3-4) ◽  
pp. 221-224
Author(s):  
Vladimir Kuburovic ◽  
Vladislav Vukomanovic ◽  
Jovan Kosutic ◽  
Sanja Rakic ◽  
Slobodan Gazikalovic ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Clinical Features ◽  
Ultrasound Examination ◽  
Foramen Ovale ◽  
Limb Defects ◽  
Limb Reduction ◽  
Congenital Aplasia ◽  
The Right

Introduction. Adams-Oliver syndrome is characterized by congenital aplasia of the vertex skin of the skull in combination with skull and transverse limb defects. Case Outline. We presented a 5-month old female infant with Adams-Oliver syndrome manifested as cutis marmorata, dilated scalp veins and limb reduction defects. Clinical manifestation also included thumb hypoplasia and extreme hypoplasia of other fingers, with agenesis of all toes on both feet. Echocardiogram revealed foramen ovale apertum. Venography showed dilated malformed scalp and neck veins, predominantly on the right side. On the basis of the clinical features and extended investigation we confirmed Adams-Oliver syndrome in the presented patient. Conclusion. We recommended prenatal diagnosis in case of future pregnancies, ultrasound examination, and follow-up of foetal anomalies.

scholarly journals Prenatal diagnosis of granular cell myoblastoma: A case report

2006 ◽  
Vol 59 (11-12) ◽  
pp. 573-576
Author(s):  
Aleksandra Novakov-Mikic ◽  
Ljiljana Ivanovic ◽  
Milos Lucic ◽  
Aleksandar Kiralj ◽  
Katarina Koprivsek ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Oral Cavity ◽  
Cesarean Section ◽  
Amniotic Fluid ◽  
Granular Cell ◽  
Histopathological Diagnosis ◽  
Normal Female ◽  
Granular Cell Myoblastoma

Introduction. The aim of this paper is to present a case of prenatal diagnosis of a congenital tumor of the oral cavity diagnosed at 28 weeks of gestation. Case report. After the diagnosis of oral cavity tumor was made by 2D ultrasound, a 3D scan was performed, which confirmed the diagnosis revealing a peduncle at the upper border of maxilla. A detailed scan was performed and no additional anomalies were seen. Magnetic resonance imaging was performed, confirming the diagnosis and the site of the tumor. Karyotype was previously done, and a normal female karyotype was found. Regular three-week follow-up scans were performed to follow the growth of the tumor, as well as the state of the amniotic fluid. No tumor growth was detected, and the amniotic fluid volume was normal until 39 weeks of gestation. Cesarean section was scheduled, due to the risk of tumor disruption during a vaginal delivery. A maxillofacial surgeon was present during an uneventful cesarean section and a complete surgical excision was done immediately after the baby was extracted and umbilical cord ligated. The histopathological diagnosis was: granular cell myoblastoma. The female newborn was developing normally, and at 5 months of age there were no traces of scarring at the place of the tumor. Conclusion. In cases of prenatal diagnosis of tumors of the oral cavity, where development of polyhydramnios can be expected, as well as difficulties with feeding and breathing after birth, it is important to make a plan for adequate follow-up and prompt surgical treatment immediately after birth. .

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