Non-cardiovascular findings on chest CT angiography in children with congenital heart disease: How important are they?

BACKGROUND: There are only a few publications about the non-cardiovascular findings in children with congenital heart diseases explored by chest CT angiography. The purpose of our study is to evaluate the prevalence of non-cardiovascular findings on chest CT angiographies in children with congenital heart disease and to raise awareness about their importance among the radiologists. METHODS: We retrospectively reviewed the 272 chest CT angiographies performed in our pediatric radiology department between January 2017 and march 2021 and extracted the data of the 180 patients positive for a congenital heart disease. Then from that pool, we sorted out the non-cardiovascular findings into significant and non-significant in regard of their relevance or not in the patient's management. RESULTS: Non-cardiovascular lesions were found in 58% (105/180) of our patients, and 49% (88/180) of them presented at least one significant non-cardiac lesion. Lung and airways abnormalities were found in 41% (74/180) of the cases, representing the majority of the non-cardiovascular findings. Syndromic associations were found in 17% (28/180) of our patients, including 14 cases of heterotaxic syndrome. CONCLUSION: Non-cardiovascular findings are common in children with congenital heart disease. Reporting these associated lesions is a requisite for an optimal therapeutic management of these children. Radiologists should never forget that a Chest CT angiography in children is first and foremost a chest CT.

Moyamoya syndrome secondary to MELAS syndrome in a child: A case report and literature revue.

Mitochondrial myopathy with lactic acidosis and stroke-like episodes is a rare mitochondrial disorder, most often revealed by symptoms and signs that typically include mitochondrial myopathy, encephalopathy with stroke-like episodes, seizures and/or dementia, and lactic acidosis. Imaging findings, although diverse, usually present characteristic features that help differentiate these disorders from vascular syndromes. We present a case of a 2-year and 4-month-old girl with recurrent ischemic strokes associated with nonterritorial cortico-subcortical foci on brain imaging, along with stenosis of the terminal portion of the internal carotid arteries associated with a neovascular network. An elevated serum lactate level was found in the biological assessment. This article provides an overview of the various neuroimaging modalities available and the advent of new imaging techniques used in these disorders. It highlights the importance of considering a diagnosis of hereditary mitochondrial disorder in the presence of recurrent atypical stroke-like episodes when neuroimaging is inconsistent with ischemic infarction and reports an exceptional association with Moyamoya syndrome.

Susac syndrome: A rare pediatric case.

Susac syndrome is a rare microangiopathy of unclear etiology, likely autoimmune, characterized by a characteristic clinical triad of encephalopathy, retinopathy, and hypoacusis. The majority of cases reported in the literature involve adult patients, with its occurrence in the pediatric population being extremely rare. Magnetic resonance imaging (MRI) is essential for diagnosis and patient monitoring, revealing nearly pathognomonic features, particularly valuable given the typically incomplete clinical triad and the consistent presence of encephalopathy, often as the initial symptom. We report the case of an 11-year-old child diagnosed with Susac syndrome, highlighting the importance of considering this diagnosis in cases of childhood encephalopathy and initiating treatment as early as possible to prevent irreversible sequelae.

Abdominal pain and distension in a 4-years-old child revealing an hepatoblastoma.

Hepatoblastoma (HBL) stands as the primary liver tumor most frequently encountered in children, typically identified within the initial 5 years of life. Cases involving patients older than 5 years are very rare. We report the case of a 4-year-old male child who presented to the emergency department with acute onset abdominal pain and fever. Clinical examination revealed significant abdominal distension, correlated with an abdominal mass later confirmed.

Vaginal botryoid rhabdomyosarcoma in an infant: A case report and review of the literature.

Botryoid rhabdomyosarcoma is a rare and aggressive malignancy that primarily affects the female genital tract in children. It arises from embryonal rhabdomyoblasts. The vagina is the most common site, but it can also occur, although rarely, in the cervix or uterine fundus. We report the case of a 2-year-old girl who presented with a rapidly growing mass in the vulvar region. A pelvic MRI revealed a grape-like mass occupying the vaginal lumen, suggestive of botryoid rhabdomyosarcoma. Biopsy of the mass confirmed the diagnosis.

Incidental Finding of Arteria Lusoria.

The arteria lusoria or retroesophageal right subclavian artery is the most common malformation of the aortic arch. It may be discovered with some symptoms of airway and/or esophageal compression, such as dyspnea or dysphagia, but in most cases it is an asymptomatic pathology. We report a case of a 3 months old patient diagnosed with Down syndrome who was admitted for pulmonary infection with incidental finding of retrooesophageal right subclavian artery.

The retrotracheal left pulmonary artery: A rare vascular malformation.

The retrotracheal left pulmonary artery, also known as "left pulmonary artery sling," is a rare vascular malformation in which the left pulmonary artery (LPA) arises from the posterior aspect of the right pulmonary artery (RPA) and reaches the left pulmonary hilum by passing between the trachea and the esophagus, giving rise to the appearance of a sling, hence the name "sling." This vascular anomaly can be associated with other cardiac malformations or abnormalities of the tracheobronchial tree.We present the case of a 4-month-old female infant who presented with laryngeal stridor. She underwent a chest X-ray, which was normal, but thoracic CT angiography revealed an aberrant LPA originating from RPA with a retrotracheal course. This case underscores the critical role of imaging in confirming the diagnosis and guiding patient management.

A Rare Case of Infantile Myofibromatosis With Intra Cranial Involvement.

Infantile myofibromatosis is a proliferative disorder occurring during infancy and early childhood, marked by the development of nodular or diffuse lesions consisting of various mesenchymal elements. Intracranial involvement is infrequently reported. Here, we present the case of a 3-year-old girl exhibiting a rare manifestation of IM with intracranial parenchymal involvement, displaying a histological pattern documented in existing literature on patients with infantile myofibromatosis. Subsequent MRI follow-up revealed no signs of recurrence.

Giant juvenile fibroadenoma: A case report.

INTRODUCTION AND IMPORTANCE: Breast pathology in adolescents is rare and predominantly benign, with abnormalities including congenital anomalies, infections, mastodynia, nipple discharge, and mostly benign breast masses. Fibroepithelial tumors, the most common type, form a heterogeneous group that includes benign, borderline, and malignant entities such as phyllodes tumors. Differentiation of these tumors, especially various types of fibroadenomas, requires histopathological examination due to their similar radiological appearances and lesion heterogeneity. Recognizing the nature of these lesions is crucial to avoid missing malignant forms with metastatic potential. Giant juvenile fibroadenoma is a quite rare benign fibroepithelial tumour, that cannot be differentiate from phyllodes tumors before anatomopathological examination. CASE REPORT: We report the case of a 14-year-old patient who presented with a rapidly enlarging mass in the left breast, and the diagnosis of giant juvenile adenofibroma was confirmed after surgical treatment. CLINICAL DISCUSSION: Giant juvenile fibroadenomas occurs in adolescent girl and constitutes 0.5 % - 4 % of all fibroadenomas cases. When it exceeds 5 cm, weighs more than 500 g, or occupies more than 4/5 of the breast, it is considered as giant. It is characterized by a rapid increase in size, causing distortion and compression of the breast. Breast ultrasound is the first imaging modality, showing a large, well-limited hypo or iso echoic mass. The main differential diagnosis should be made with phyllodes tumors. The diagnosis is considered based on clinical and radiological features but is confirmed only after surgical excision of the mass and histological study. CONCLUSION: The discovery of a breast mass in an adolescent should prompt further investigations to avoid overlooking a fibroepithelial tumour. The most probable diagnoses are giant juvenile fibroadenoma and phyllodes tumors.

Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report.

Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+.

Congenital cervico-vaginal aplasia with a functional uterus: A case report and review of literature.

Maldevelopment of the vagina and cervix is frequently accompanied by uterine aplasia or hypoplasia. Complete cervico-vaginal aplasia with a normally developing uterus is a very uncommon type of developmental failure. Failure to treat the condition can result in complications such as hematometra and hematosalpinx caused by the retrograde flow of blood into the fallopian tubes. In this case report, we describe the case of a 32-year-old woman experiencing cyclic abdominal pain and primary amenorrhea. The patient exhibited cervico-vaginal agenesis, with a functional uterus that was complicated by hematometra and bilateral hematosalpinx.

Multiseptate gallbladder in an asymptomatic child: Case report and review of the literature.

Multiseptated gallbladder also known as "Honeycomb gallbladder" is a rare condition that was first described by Tandon in 1963. It is described as a congenital anomaly in most of the cases. It may be asymptomatic or may lead symptoms. We present the case of a multiseptate gallbladder in a 5 year old girl who was admitted for managament of acute appendicitis.

A Dental Extraction Revealing a Multisystem Burkitt's Lymphoma: A Case Report.

Burkitt's lymphoma is rare but highly aggressive and very fast-growing B-cell non-Hodgkin's lymphoma (NHL). It can affect any organ such as the central nervous system, jaw, intestines, kidneys, ovaries, and other organs. It results from the malignant evolution and proliferation of B-type lymphoid cells. The diagnosis is based on a biopsy of a tumor mass or bone marrow aspiration revealing the presence of tumor cells. We report the case of a 7 year old child who was referred for a gingival swelling evolving since 1 month following a dental extraction. Imaging and anatomopathological examination after biopsy concludes to a multi systemic Burkitt's lymphoma. A chemotherapy was immediately started with spectacular complete remission.

Superior Mesenteric Artery Syndrome: A Misdiagnosed Disorder.

The superior mesenteric artery syndrome also known as Wilkie's syndrome or Benign duodenal stasis, is a condition that occurs when the third duodenum is compressed between the superior mesenteric artery anteriorly and the abdominal aorta posteriorly following the disappearance of the perivascular fatty tissue. It can emulate the symptoms of an upper abdominal obstruction. This case involves a 9-year-old female patient experiencing food vomiting that did not improve with medication. Radiological work-up, which included an abdominal X-ray and a CT angiography, led to the diagnosis of extrinsic and incomplete obstruction of the third duodenum by the aorto-mesenteric clamp. Unfortunately, this diagnosis is rarely made. The purpose of this article is to provide a review of the etiology, clinical presentation, and imaging findings of this syndrome.

The white cerebellum sign: Classic but under recognized sign of brain injury.

The white cerebellum sign is a concerning but uncommon radiological imaging result that is frequently seen in patients with severe, frequently irreversible anoxic-ischemic brain injury. Due to its frequent correlation with an unfavorable prognosis, radiologists must recognize this sign. We report the case of a 1 year old girl with history of epilepsy who presented with deterioration of conscious level and focal fits and brain computed tomography scan done on her revealed the white cerebellum sign.

Amyand's hernia in a 3-month-old infant: A case report.

Amyand's hernia is a rare condition characterized by an inguinal hernia containing the appendix, which can lead to complications. It is more common in children and it can be challenging to diagnose due to its location, often being mistaken for other conditions like strangulated hernias, orchitis-epididymitis, or testicular torsion. Imaging, including computed tomography and sonography, plays an important role in diagnosis, which is usually made intraoperatively. A case concerning a 3-month-old boy with a large acute scrotum that had been evolving for 4 days was presented. Clinical examination revealed a hard inguinal mass and a large scrotum with signs of inflammation. An inguinoscrotal ultrasound found a herniated appendix, suggesting the diagnosis of Amyand's hernia, which was confirmed after surgery.

Spinal metastasis of nephroblastoma: Yes it exists.

Nephroblastoma or Wilms' tumor is the most common malignant tumor of the kidney in the pediatric population. Metastasis is caused by hematogenous spread. The most common localizations in decreasing order of frequency are lymph nodes, lungs, and liver. The bone is very rarely affected. According to the literature, bone metastases have been described in the iliac bone, skull, and mandible. The vertebral localization was described in 3 cases only, the first 1 in 2009, and the 2 others in 2015 . The goal of our work is to report a very rare case of metastatic vertebral localization of a Wilms' tumor in relapse after treatment; and thus to underline the potential for vertebral and intracanal involvement in nephroblastoma.

Right atrial tumor revealing intravascular leiomyomatosis: about a case and literature review.

Intravascular leiomyomatosis (IVL) is a very rare extension of uterine leiomyoma through the pelvic vessels. It is a benign pathology with malignant potential with a possibility of intra-cardiac extension and metastases (cerebral, pulmonary, lymph node); early diagnosis is very difficult. Prognosis depends on involvement of the inferior vena cava and extension to the right cavities. We report a case of complications of IVL, precisely the extension in the right atrium, in a 49-year-old woman. The objective of our work is to highlight the importance of imaging in the diagnosis of the vascular extension of leimyomatosis.

Unusual Case of Diffuse Neonatal Hemangiomatosis Case Report and Literature Review.

Diffuse neonatal hemangiomatosis (DNH) is an infrequent condition characterized by the simultaneous occurrence of multiple cutaneous hemangiomas and the involvement of 3 or more organs. DNH is suspected when multiple hemangiomas are identified on the skin of the infant. Although it is benign in nature, DNH can lead to critical and life-threatening complications. Diagnosis primarily relies on clinical evaluation with a significant emphasis on imaging techniques. In this case report, we present an unusual pediatric case of diffuse infantile hemangioendothelioma, for which the investigative approach included ultrasound and CT scans. These imaging methods were instrumental in revealing the presence of lesions in the liver, thyroid, and brain, ultimately playing a pivotal role in making the diagnosis of DNH. A positive clinical and biological improvement was observed with corticosteroid treatment during a 3-month follow-up.