Clinical Entity In Children Research Articles

Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis andTherapeutic Strategies.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare autoimmune neurological disorder seen in both pediatric and adult populations. CIDP typically presents with progressive and persistent weakness over at least 4 weeks in addition to sensory symptoms in the extremities. Although CIDP shares common clinical features between children and adults, it sometimes presents as a distinct clinical entity in children that requires close attention and recognition. A major caveat when diagnosing a child with CIDP is the clinical and diagnostic overlap with inherited neuropathies, most commonly Charcot-Marie-Tooth disease (CMT). Demyelinating CMT (dCMT) and CIDP might share similar clinical presentations, and sometimes it might be difficult to differentiate them on the basis of the electrodiagnostic findings or cerebrospinal fluid (CSF) albumino-cytological dissociation. This indeed merits early consideration for genetic testing in patients who do not respond to conventional CIDP therapies. Current treatment options for CIDP include intravenous immunoglobulins (IVIG), corticosteroids (CS), and plasmapheresis (PLEX). The need for novel therapies is essential in instances where patients continue to have symptoms despite the standard therapies or due to adverse effects of long-term use of standard therapies such as CS. This paper reviews the challenges in the diagnosis of CIDP in children and the current as well as novel therapies for CIDP.

Sjögren's Syndrome: A Rare Clinical Entity in Children

Background. Sjögren's syndrome (SS) is a rare autoimmune disease in children, with only a few hundred reported cases. Its clinical presentation is atypical. We report the case of a 14-year-old boy diagnosed with recurrent parotitis.
 Case Presentation. Our patient, a 14-year-old male, presented with a one-year history of recurrent bilateral parotid swellings. Clinical examination revealed an objective oculo-buccal dryness. Ultrasound imaging showed hypoechoic hypertrophy of the parotid glands. Anti-SSA/SSB antibodies were strongly positive. Histological study of the accessory salivary glands revealed lymphocytic sialadenitis with a focus score of 3. The diagnosis of SS was confirmed according to the ACR/EULAR 2016 criteria. The combination of treatment with hydroxychloroquine and corticosteroids resulted in the resolution of clinical signs and biological inflammatory markers.
 Conclusion. Given the rarity of SS in children, several diagnostic and therapeutic difficulties arise, in the absence of classification criteria adapted to the juvenile form of the disease, and the absence of therapeutic recommendations consolidated by clinical trials in children.

Subclinical Arrhythmias and Conduction Disturbances in Children with Myopericarditis: A 24-hour Holter Monitorization Study.

Myopericarditis is reported as a benign clinical entity in children and adolescents. However, there is no study investigating specifically the arrhythmias in these children. In the present study, we aimed to investigate the frequency of arrhythmias and conduction disturbances from surface electrocardiography and 24-hour Holter monitor, in children with myopericarditis. The medical records of the children with the diagnosis of myopericarditis between 2016 and 2021 were retrospectively reviewed. Clinical features, surface electrocardiography, and 24-hour Holter recordings were evaluated in terms of rhythm and conduction abnormalities. Mean troponin level was 7980.52 ± 14880.27 ng/L at admission. At discharge, the mean troponin level was 8.27 ± 10.73 ng/L and it was above the upper limit of normal in 19/27 (70.4%) patients. Surface electrocardiography was normal in terms of arrhythmias and conduction disturbances in all patients. Twentyfour-hour Holter monitarization was found to be normal in 23 patients. In 4 patients, there were clinically insignificant arrhythmias; nonsustained accelerated idioventricular rhythm=1, ventricular couplet with low rate=1, infrequent supraventricular premature contractions=1, and infrequent ventricular premature contractions+Wenckebach type atrioventricular block=1. Our findings support that myopericarditis is a benign clinical problem in children also in terms of arrhythmia.

Pediatric Gastric Volvulus: Is Laparoscopic Hill-Snow-Modified Gastropexy the Effective Long-Term Minimally Invasive Solution?

Introduction: Gastric volvulus (GV) is a rare and life-threatening condition if not promptly diagnosed and treated. Extreme rotation can cause obstruction cutting off blood supply to stomach and distal organs, leading to ischemia and necrosis. It is a clinically significant cause of acute/recurrent abdominal pain and chronic vomiting in children. GV can be classified into the following: primary, secondary, organoaxial, mesenteroaxial, or combined, acute, or chronic. Materials and Methods: Six neonates (5 males-1 female) were admitted to our department for recurrent postprandial vomiting associated with paleness, hyporeactivity, transitory abdominal distension, failure to thrive, and respiratory infections (only-1). Median age: 6 months (range 2-9 months). Patients metabolic and neurological evaluations were normal. A barium-swallow-study (upper gastrointestinal [UGI]) allowed definitive diagnosis. Results: UGI and esophagogastroduodenoscopy (EGDS) showed a gastric abnormal dilatation (gastric fundus), hiatal hernia (HH) in 5 patients, a large/small curvature discrepancy in 3 patients. Four were chronic-organoaxial-GV, 2 chronic-mesenteroaxial-GV. All underwent Laparoscopic-Hill-Snow-gastropexy (LHSG) with HH correction. No intraoperative/postoperative complications were recorded. Refeeding started in first postoperative day. Average hospital stay: 6-days. At long-term follow-up, all patients were symptoms free (able to vomit/burp); 2 referred occasionally epigastric pain sometimes with vomit. At 10-12 years follow-up UGI and EGDS confirmed correct gastric position revealing gastroduedenitis. Discussion: GV is a rare clinical entity in children considering etiology and management with an important morbidity and mortality rate. Its diagnosis could be missed simply. Vomiting or HH on imaging studies should suggest GV regardless patient's stable appearance. Conclusions: Chronic GV can manifest with atypical chest, abdominal, and gastrointestinal symptoms. Early diagnosis and treatment reduce the risk of developing acute form. LHSG is a long-term effective and safe solution with a very low complication rate, and no symptoms correlated to Nissen procedure.

Multisystem Inflammatory Syndrome in Children and Kawasaki Disease: A Clinical Conundrum

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in general leads to a mild disease in children, but a rare yet serious complication of multisystem inflammatory syndrome in children (MIS-C) has been reported.1 MIS-C cases are on the rise during the COVID-19 pandemic, and clinical features overlap between MIS-C and an already well-known clinical entity in children: Kawasaki disease (KD). Both KD and MIS-C are diagnoses of exclusion, and can present with acute fever and increased inflammatory markers without any other potential etiology.2 Despite the overlap in clinical presentation, there are some differentiating features that could help establish an accurate diagnosis and appropriate management, which are highlighted in this article.

Biliary hyperkinesia in adolescents-it isn't all hype!

Biliary dyskinesia generally refers to a hypofunctioning gallbladder with an ejection fraction (EF) of <35% on hepatobiliary iminodiacetic acid scan with cholecystokinin stimulation (CCK-HIDA testing). In adults, biliary hyperkinesia has a defined association with biliary colic symptoms and can be relieved with surgical intervention. This clinical entity has not been well described in children or adolescents. In fact, only recently have we seen biliary hyperkinesia on HIDA at our centers. To that end, we reviewed our recent experience with adolescents who have presented and been treated for this unusual clinical entity. With IRB approval, we retrospectively reviewed the records of all patients with abnormally high HIDA EFs (>80%) cared for by the pediatric surgery services at two tertiary care centers over the span of a three-year period. Age, sex, BMI, CCK-HIDA results, and preoperative testing and post-operative pathology were noted. Resolution of symptoms was determined by subjective patient self-reporting at postoperative visit. Eighteen patients met inclusion criteria. Average age 15.7 (range, 10-17 years), median BMI 27.3 (±8.2). Fifteen patients were female and 3 were male. Average CCK-HIDA EF was 91.6% (±5.2), 82.4% of the patients had evidence of chronic cholecystitis and/or cholesterolosis on pathology. Postoperatively, 82.4% of the patients available for follow up (n=17) reported complete or near complete resolution of symptoms. Biliary hyperkinesia is an emerging clinical entity in children and adolescents and has a similar presentation to biliary hypokinesia. While the pathophysiologic mechanism of pain is not fully elucidated, laparoscopic cholecystectomy appears to provide a surgical cure for these patients and should be considered in the differential for the patient with an unremarkable workup and history suggestive of biliary colic.

Giant pulmonary hydatid cyst in children

BackgroundLungs are the second most common site for hydatid disease after the liver. Giant hydatid cyst (GHC) of the lung is a special clinical entity in children and is related to higher lung tissue elasticity. AimTo compare clinical and imaging features, types of surgical interventions, and postoperative complications in pulmonary GHC and non-giant pulmonary hydatid cysts (NGHC) in children. MethodsA retrospective study was undertaken. The data analyzed were taken from medical records of children with pulmonary hydatid cyst (PHC) hospitalized in a pulmonary department in Tunisia between January 2004 and February 2019. Cysts were divided according to their size into GHC ( ≥10cm) and NGHC (<10cm). ResultsIn the study period, 108 PHC were recorded in 84 children. GHC accounted for 21 (19.4%) and NGHC for 87 (80.6%). The median of age of the children was 11 years (IQR 1–9, IQR 3–14) and the mean age was 11.6 years (10.5 in GHC vs. 11.4 years in NGHC). Hemoptysis was found in 25% of the GHC group vs. 48.4% of the NGHC group (P=0.27). Cysts were multiple in 23.8% of cases and predominated in the right in 64.3% of cases and in the inferior lobes in 71.4% of the cases. GHCs were less frequently complicated (60% vs. 78.1% in NGHC, P≤0.11), although not significantly. Parenchymal resection was realized in 50% of GHC vs. 18.8% of NGHC (P=0.006). No significant difference was found in postoperative complications between the two groups and there was no recurrence in either group. ConclusionGHC is a special clinical entity in children. It requires major surgery with parenchymal resection, and therefore early diagnostic and therapeutic management is warranted.

Spontaneous pneumomediastinum and pneumorrhachis in a healthy girl

Primary spontaneous pneumomediastinum (SPM) is a rare clinical entity in children. It may arise in isolation or is associated with other complications.[1–4][1] Benign and self-limited, it is usually managed conservatively,...

A Clinical Entity Often Missed-Solitary Rectal Ulcer Syndrome in Children.

Background: Solitary Rectal Ulcer Syndrome (SRUS) was a relatively uncommon and easily misdiagnosed clinical entity in children. The diagnosis of this condition was often delayed due to lack of clinical suspicion. Only case series were available and no definitive treatment was postulated. Here, we share our experience of SRUS in our institute and reviewed the literature published so far.Aim: To study the clinical profile and treatment response of Solitary Rectal ulcer Syndrome in Children (SRUS).Materials: The clinical profile and 1 year follow up response of the diagnosed cases of SRUS over a period of 5 years was retrospectively collected from medical record department.Results: The median age of presentation among 24 children was 8 years with majority (75%) above 5 years. All children presented with intermittent rectal bleeding with median duration of 5.5 months. The other presenting symptoms documented were hard stool (79%), mucorrhea (70%), and abdominal pain (58%). One child presented with rectal prolapse. On colonoscopy, 46% had single ulcer while another 46% had multiple ulcers and 8% had polypoidal lesion. All lesions were within distal rectum and had characteristic histological pattern. All children were treated with conventional treatment like dietary fibers and laxatives along with toilet training. About 75% children attained remission and 25% had relapse but responded with corticosteroid enema. None required surgery.Conclusion: Conventional treatments itself induce and maintain remission in most of SRUS patients if treatment is instituted at the earliest. Thus, early suspicion and diagnosis is needed to achieve remission.

Recurrent, protracted and persistent lower respiratory tract infection: A neglected clinical entity

Community-acquired pneumonia is a potentially life-threatening disease affecting children worldwide. Recurrent pneumonia episodes can lead to the development of chronic respiratory morbidity. Chronic wet cough, a common pediatric complaint, is defined as a wet cough indicating excessive airway mucus that lasts for a minimum of 4 weeks. Most children with a chronic wet cough do not suffer from underlying debilitating pulmonary disorders. Rather, chronic wet cough is generally associated with neutrophilic airway inflammation and bacterial infections of the conducting airways. Failure to characterize endobronchial infections has led to under-recognition of chronic wet cough as an important clinical entity in children. Under-recognition and under-treatment of protracted bacterial bronchitis (PBB), a diagnosis made by the presence of isolated cough >4 weeks that resolves with appropriate antibiotic treatment, may lead to the development of chronic suppurative lung disease (CSLD) and bronchiectasis. The burden of bronchiectasis is highest in developing countries and in specifically vulnerable populations in developed countries, in particular indigenous children living in remote communities. The incidence, hospitalization rates and risk of long term sequelae of childhood pneumonia in indigenous children are higher than in non-indigenous children residing in the same area. The overlapping clinical and pathophysiological characteristics of PBB, CSLD and bronchiectasis are the presence of a chronic wet cough, impaired mucociliary clearance of the conducting airways, the presence of endobronchial bacterial infection (mainly non-typeable Haemophilus influenzae, Streptococcus pneumoniae and Moraxella catarrhalis) and neutrophilic airway inflammation. The principles of managing PBB, CSLD and bronchiectasis are the same. More research and public health interventions are required to improve the awareness, diagnosis and management of these causes of chronic wet cough in children.

Resective surgery in the treatment of super-refractory partial status epilepticus secondary to NMDAR antibody encephalitis

BackgroundAnti-NMDAR encephalitis is an increasingly described clinical entity in children, comprising 40% of all cases. We present a case of super-refractory status epilepticus secondary to anti-NMDAR encephalitis treated with emergent resective surgery. Case studyA 7 years-old boy presented with progressive abnormal irritability. On the day after admission he had multiple seizures, characterized by head and eye version to the right. EEG revealed left parietal-occipital continuous paroxysmal activity. Anti-NMDAR antibodies were positive in CSF and serum. After almost 3 months in the Intensive Care Unit, in barbituric coma, and given the failure of all treatment regimens, a preoperative evaluation was conducted. Ictal SPECT showed significant hiperperfusion and brain FDG-PET a cortical hypometabolism in the left occipital lobe; a left occipital lobectomy was performed. In the next days it was possible to progressively suspend Thiopental. Currently, patient presents right homonymous hemianopsia, eats by his own hand but needs help in almost all other activities. DiscussionStatus epilepticus (SE) in the setting of anti-NMDAR encephalitis is unusual but described. Whilst the role of surgery in the management of refractory focal epilepsy is established, it is seldom used in the treatment of SE. In the patient with refractory SE (RSE), awareness of surgery as a potentially life saving treatment is an important issue. To our knowledge, this is the first report of a partial RSE secondary to anti-NMDAR encephalitis treated with resective surgery and illustrates the need to consider anti-NMDAR encephalitis as a cause of super-refractory SE.

Neurovascular sparing vas clipping: last option for recurrent epididymo-orchitis in urethrovasal reflux due to urethral injury

Acute scrotum is a critical clinical entity in children. This report presents a 12-year-old boy presented with recurrent epididymo-orchitis (EO) with a history of pelvic trauma and urethral disruption 10 years ago. Antegrade and retrograde studies confirmed urethrovasal reflux. The patient did not respond to prophylactic antibiotics, clean intermittent catheterization and endoscopic injection of bulking agent at the junction of the ejaculatory duct and posterior urethra. As the last option, neurovascular sparing vas clipping was performed and the patient made a full recovery. This is the first report of this technique in the treatment for recurrent EO caused by traumatic injury.

Proximal tibiofibular joint instability in a child

Proximal tibiofibular instability is a rarely reported clinical entity in children. In this case report, we describe such a case in an 8-year-old boy successfully stabilized using a minimally invasive technique with a Tightrope device. The child remained pain free and asymptomatic at 2 years of follow-up. The surgical technique is described as well as potential complications and a review of the literature.

P01-241 - Bipolar disorder in childhood and adolescence

IntroductionThe diagnosis of Bipolar Disorder (BD) is still controversial in the early stages of life, not only because of its difficulty, but also because of the precaution of professionals with this diagnosis, since it is a chronic illness.AimsTo review and synthesize available information about paediatric BD.MethodsThe authors consulted, selected and reviewed information concerning the theme, mainly searched on-line articles.ResultsIt is difficult to diagnose BD in youths, considering the fewer specific symptoms and the high co-morbidity.ConclusionsDespite some disagreement on this diagnosis, BD is a valid clinical entity in children and adolescents.

Epstein‐Barr virus and the pathogenesis of Burkitt's lymphoma: More questions than answers

Burkitt's lymphoma (BL) was first described as a clinical entity in children in Central Africa by Denis Burkitt in 1958. The particular epidemiological features of this tumor initiated the search for a virus as the causative agent and led to the discovery of Epstein-Barr virus (EBV) by Epstein and coworkers in 1964. It became apparent in the seventies and eighties that the tumor is not restricted to Central Africa, but occurs with lesser incidence all over the world (sporadic BL) and is also particularly frequent in HIV infected individuals, and that not all BL cases are associated with EBV: about 95% of the cases in Central Africa, 40 to 50% of the cases in HIV-infected individuals and 10 to 20% of the sporadic cases harbour the viral information and express at least one viral antigen (EBNA1) and a number of non-coding viral RNAs. In contrast, all BL cases regardless of their geographical origin exhibit one of three c-myc/Ig chromosomal translocations leading to the activation of the c-myc gene as a crucial event in the development of this disease. Although epidemiological evidence clearly points to a role of the virus in the African cases, the role of EBV in the pathogenesis of BL has remained largely elusive. This review summarizes current concepts and ideas how EBV might contribute to the development of BL in the light of the progress made in the last decade and discusses the problems of the experimental systems available to test such hypotheses.

Phaeochromocytoma in children

Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are “familial”, a germline mutation has been identified in up to 59%...

Retroperitoneoskopische Nephrektomie bei einem Neugeborenen wegen Faktor-V-Leiden-Mutation und in utero vena cava inferior und Nierenvenenthrombose: erster Fallbericht

BACKGROUND: Renal vein thrombosis is a well-recognized but now rare clinical entity in children. METHODS (CASE REPORT): We report successful retroperitoneoscopic nephrectomy for a non functioning kidney secondary to in-utero inferior vena cava and renal vein thrombosis due to heterozygosity for factor V Leiden mutation leading to resistance to activated protein C, and discuss the associated prothrombotic genetic risk factors, safety and feasibility of the procedure in the presence of abnormal retroperitoneal venous collaterals and describe the difficulties faced by the laparoscopic surgeon when entering into a retroperitoneal space with collateral vessels brought on by an old standing blockage of a major vein. RESULTS: To our knowledge, retroperitoneoscopic nephrectomy has never been reported in children with thrombophilic mutation and IVC thrombosis. CONCLUSIONS: The retroperitoneal approach can be performed safely in the presence of renal vein and IVC thrombosis. The relatively long operating time is necessary for hemostasis in the presence of abnormal retroperitoneal venous collaterals.

Benign Intrascrotal Lipoblastoma in a Child

Lipoblastoma of the scrotum is a rare clinical entity in children. It represents one of several differential diagnoses of scrotal masses that include malignant tumors. Surgical extirpation is mandatory. We present a rare case.

Management of eosinophilic esophagitis in children

Eosinophilic esophagitis has recently emerged as a distinct clinical entity in children. The clinical spectrum varies with age and ranges from failure to thrive and food aversion in the toddler to gastroesophageal reflux disease-like symptoms in school-age children to solid food dysphagia and food impaction in adolescents. The diagnosis is based on the presence of at least 15 eosinophils per high power field in the esophageal biopsy in children pretreated with at least 8 weeks of adequate acid-suppression therapy. Although elemental diet is a more effective therapy than other less restrictive elimination diets, the latter has practical advantages over elemental therapy. Topical and systemic corticosteroids have also been used. Studies are underway to establish the safety and efficacy of anti-interleukin-5 monoclonal antibodies. The natural history of eosinophilic esophagitis is not known and prospective studies are required to understand the etiopathogenesis, optimal therapies and find noninvasive surroga...

Malignant neoplasms of the head and neck

Head and neck masses represent a common clinical entity in children. In general, these masses are classified as developmental, inflammatory, or neoplastic. Having a working knowledge of lesions within this region and conducting a thorough history and physical examination generally enables the clinician to facilitate an appropriate workup and establish a diagnosis. The differential diagnosis is broad, and expeditiously distinguishing benign from malignant masses is critical for instituting a timely multidisciplinary approach to the management of malignant lesions. Neoplasms of the head and neck account for approximately 5% of all childhood malignancies. A diagnosis of malignancy may represent a primary tumor or metastatic foci to cervical nodes. In this review, we discuss the general approach to evaluating suspicious masses and adenopathy in the head and neck region and summarize the most common malignant neoplasms of the head and neck with regard to their incidence, clinical presentation, diagnostic evaluation, staging, and management. Thyroid, parathyroid, and salivary gland tumors are discussed elsewhere in this issue of Seminars in Pediatric Surgery.