Common Pediatric Diseases E-Book
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- Herausgeber: Bentham Science Publishers
- Kategorie: Fachliteratur
- Serie: Updates on Pediatric Health and Diseases
- Sprache: Englisch
Common Pediatric Diseases: An Updated Review informs the reader about common diseases in children that are encountered by pediatricians and family physicians. Each of the 14 chapters in the volume presents updated information for readers with the aim to give them a current perspective on the topic. This book is a handy and practical compendium for medical students and healthcare professionals involved in general practice and pediatric clinics.
The text starts with a quick introduction to pediatric diseases, before progressing towards specific diseases in children. The list of topics in this book includes pediatric rheumatological diseases, common oral diseases, pediatric metabolic syndromes, pediatric epilepsy syndromes, pediatric demyelinating disorder, genetic epileptic encephalopathies (with an algorithmic diagnostic approach), Henoch-Schönlein purpura, atopic dermatitis, childhood-onset systemic lupus erythematosus, Severe Combined Immunodeficiency, PFAPA, aphthous stomatitis, pharyngitis, cervical adenitis syndrome and pediatric hepatoblastoma.
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Seitenzahl: 825
Veröffentlichungsjahr: 2001
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PREFACE
Seeing the world through the eyes of a child/infant sounds inspirational. They are little, lovely, and defenseless. Pediatric is the science of taking care of these cute creations. Pediatric is a branch of medicine that focuses on the diagnosis and treatment of infants, children, and adolescents’ diseases. As the medical sciences are getting more complex with the information explosion, interdisciplinarity is the essential tool to integrate different topics. Therefore, we established an interest group, entitled “Network of Interdisciplinarity in Neonates and Infants (NINI)” in the Universal Scientific Education and Research Network (USERN), and invited pediatricians and scientists in the field of pediatrics from all over the world to join this multidisciplinary network: https://usern.tums.ac.ir/Group/Info/NINI
The “Updates on Pediatric Health and Disease” series is a comprehensive text regarding childhood and adolescence health and diseases. Neonatology, as well as different diseases in all subspecialties of pediatrics, including pediatric allergy and immunology, pediatric cardiology, pediatric endocrinology, pediatric gastroenterology, pediatric hematology, pediatric infectious disease, pediatric nephrology, pediatric oncology, pediatric pulmonology, pediatric rheumatology, pediatric neurology, pediatric psychiatry, and pediatric dermatology, will be discussed in different volumes.
“Common Pediatric Diseases: An Updated Review” is the first volume of this book series; in this volume, after a rapid introduction to Pediatric diseases (Chapter 1), pediatric rheumatologic diseases are discussed (Chapter 2). Then, the book provides an update on common oral diseases (Chapter 3). Chapter 4 takes a specific view of Pediatric Metabolic Syndromes. The book also provides some chapters regarding neurologic diseases, including Pediatric Epilepsy Syndromes (Chapter 5), Pediatric Demyelinating Disorder (Chapter 7), and also a diagnostic algorithmic approach to Pediatric Genetic Epileptic Encephalopathies (Chapter 6). It contains several chapters concerning updates of Henoch-Schönlein purpura (Chapter 9), Atopic Dermatitis (Chapter 8), Childhood-Onset Systemic Lupus Erythematosus (Chapter 10), Severe Combined Immunodeficiency (Chapter 11), PFAPA- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome (Chapter 12) and Pediatric Hepatoblastoma (Chapter 13).
Updates on Pediatric Health and Disease Book is the result of the valuable contribution of scientists and clinicians from well-known universities/institutes worldwide. I would like to hereby acknowledge the expertise of all contributors for generously devoting their time and considerable effort in preparing their respective chapters. I would also like to express my gratitude to the Bentham Science publication for providing me the opportunity to publish the book.
Finally, I hope that this timely book will be comprehensible, cogent, and of special value for researchers and clinicians who wish to extend their knowledge of Pediatrics.
ACKNOWLEDGEMENT
I would like to express my gratitude to the Editorial Assistant of this book, Dr. Noosha Samieefar. Undoubtedly , the book would not have been completed without her contribution.
DEDICATION
This book would not have been possible without the continuous encouragement by my family.
I wish to dedicate it to my daughters, Ariana and Arnika, with the hope that we learn enough from today to make a brighter future for the next generation.
List of Contributors
Introduction of Common Pediatric Diseases
Nima Rezaei1,2,*,Noosha Samieefar3,1,4Abstract
Pediatric health has improved over the past decades and there is a decline in deaths caused by infectious diseases. Yet, the top three causes of disease in children younger than 10 years in 2019 include neonatal disorders, lower respiratory tract infections, and diarrheal diseases. While in the adolescence age group, the major causes are road injuries, headache disorders, and self-harm. Preterm birth complications, pneumonia, and birth asphyxia are the most leading cause of death in children under five years. While in the five to nine years of age group, injuries, including road traffic injuries, drowning, burns, and falls, are the leading causes of death.
INTRODUCTION
Pediatrics, a branch of clinical medicine that studies the diseases and health conditions associated with infants, children, and adolescents, is not just a profession but solicitude. Children should not be considered tiny adults, and their diseases must be studied and investigated professionally and specifically.
With information explosion and new advances in medical sciences, pediatrics is going to be a set of subspecialties rather than just a specialty.
This emphasizes the need to develop multidisciplinary and inter-disciplinary approaches and researches. Care coordination could be defined as “a patient- and family-centered, assessment-driven, team-based activity designed to meet the needs of children and youth while enhancing the caregiving capabilities of families. Care coordination addresses interrelated medical, social, developmental, behavioral, educational, and financial needs to achieve optimal health and wellness outcomes”. The results of such different disciplines coordination are efficient care coordination, cost efficiency, improvement of the team working, better communication with families, and finally better health outcomes [1].
Particularly, the mental health care of children is a neglected part of primary care settings. The integrated care models in multidisciplinary centers with psychiatric consults would result in better mental health outcomes [2].
Another condition in which integrated approaches are critical is the management of severe cases as they usually suffer from comorbidities simultaneously.
However, these integrated models demand a precise schedule and a well-designed set of collaborations. Additionally, all the medical services should not be directed in highly specialized pediatric centers that would reduce the local hospital referrals [3].
In this chapter, firstly, we review the epidemiology and trend of pediatric diseases. Then, a brief review of common pediatric diseases based on the organ involved is provided.
EPIDEMIOLOGY
The health status of children is improving over the years. The burden of diseases among children under 10 years has declined dramatically about 60 percent, during the years 1990-2019. The reason is better management of infectious diseases, mainly lower respiratory tract infections, diarrheal diseases, and meningitis. However, communicable diseases are still a leading cause of morbidity in children accounting for six of the top ten causes of burden in children. The main causes of disease burden in children younger than 10 years in 2019 include neonatal disorders, lower respiratory tract infections, diarrheal diseases, congenital birth defects, malaria, meningitis, dietary iron deficiency, protein-energy malnutrition, whooping cough, STIs (sexually transmitted infections excluding HIV), respectively.
In the 10-24 years age group, which include adolescents, the top ten causes of burden include road injuries, headache disorders, self-harm, depressive disorders,
interpersonal violence, anxiety disorders, low back pain, dietary iron deficiency, HIV/AIDS, and diarrheal diseases, respectively [4].
The common causes of death among children could be categorized as follows: 1. Respiratory diseases like pneumonia, whooping cough, etc. 2. Gastrointestinal diseases like diarrhea, hepatitis, etc. 3. Malnutrition and nutritional disorders 4. Malaria 5. Chronic neurological diseases include hydrocephalus, cerebral palsy, and so on 6. Acute neurological diseases such as meningitis, encephalitis, etc. 7. Tuberculosis leading to pulmonary, extra-pulmonary, or disseminated involvements 8. Acute rash and fever/infection like Measles, dengue fever, etc. 9. HIV infection 10. Emergencies like bowel obstruction, trauma, poisoning, etc. 11. Renal diseases include urinary tract infection, acute renal failure, chronic renal failure, etc. 12. Endocrine diseases such as diabetes and thyroid diseases 13. Hematological disorders like anemia, bleeding disorders, etc. 14. Heart diseases 15. Cancer 16. Child protection problems like sexual and physical abuse, neglect, homicide, suicide, and so on 17. Low birth weight 18. Prematurity 19. Neonatal infections e cord sepsis, congenital infections (examples include syphilis, malaria, rubella), etc 20. Perinatal conditions such as birth asphyxia, respiratory distress syndrome, etc. 21. Congenital malformations like malrotations, gastroschisis, imperforate anus, etc [5].
Preterm birth complications, pneumonia, birth asphyxia, diarrhea, and malaria are reported to be the top five causes of death in children under five years. While in five to nine years of age group injuries, including road traffic injuries, drowning, burns, and falls, are the leading causes of death [6].
According to the United Nations Inter-agency Group for Child Mortality Estimation (UN IGME) report, 6.2 million deaths in children younger than 15 years were recorded only in 2018. Unfortunately, most of these deaths are from preventable causes, and most are in the youngest group, neonates [7].
Although there have been improvements in declining the death rate, there is much to do. The mortality rate has declined from 76 to 39 per 1000 from 2000 to 2018. Many of these deaths occur in sub-Saharan Africa [6].
PEDIATRIC DISEASES TREND
Overall, with increasing Socio-demographic Index or SDI (an index of social development evaluation), pediatric diseases are shifting from communicable to non-communicable [4]. Now, more attention is attracted to psychological and behavioral morbidities and mental health [8].
However, in low-income countries, infectious and communicable diseases are still life-threatening, especially in children below ten years of age. Malnutrition is another problem they are faced with [9].
In sub-Saharan Africa, around fifty percent of children do not have access to common vaccines like tetanus. In some areas of developing countries, the access rate to vaccination is less than 20 percent [10].
INTEGUMENTARY SYSTEM
In a study of skin diseases surveillance, the three most common causes of pediatric dermatology clinic referral were eczema, bacterial, and fungal infections [11].
Impetigo
Impetigo is a common bacterial skin infection caused by Staphylococcus aureus and Streptococcus pyogenes. The disease is categorized into Bullous or Non-Bollous forms. The typical key for clinicians that helps the diagnosis is the yellowish crusts surrounded by erythema [12, 13].
Folliculitis
Folliculitis is a superficial staphylococcal infection that results in inflammation of the hair follicles.
Furuncle (Boil)
Furuncle is a deep painful staphylococcal infection in which the adjacent soft tissue is involved, too. The collection of furuncles is named carbuncle [13].
Staphylococcal Scalded Skin Syndrome (SSSS)
SSSS or Ritter disease is a severe skin infection caused by Staphylococcus aureus exfoliative toxin. The presentation is erythroderma or bullae followed by diffuse epidermal exfoliation [14].
Molluscum Contagiosum
Molluscum Contagiosum is a viral skin infection caused by a poxvirus. The lesions are papules with a dimple in the center [13].
Rubella
Rubella, also called German measles or three-day measles, is a viral infection characterized by rash and fever. The rashes are spotty, erythematous, and maculopapular. Forchheimer spot is a petechial lesion on the soft palate that develops in 20% of cases [15].
Measles
Measles or Rubeola is caused by a virus of the Paramyxoviridae family. It is a highly contagious viral disease that is characterized by fever and generalized rash. Koplil’s spot is a pathognomonic sign [12].
Herpes Simplex
It is a viral infection that results in grouped vesicles. Herpes Simplex Virus (HSV) type one is associated mainly with orofacial involvement, while HSV type 2 causes genital infections [16].
Varicella
Varicella or chickenpox, caused by varicella zoster virus (VZV), is a highly contagious disease. The presentation begins with flu-like symptoms followed by itchy rashes and teardrop vesicles [17].
Hand-Foot-Mouth Syndrome
Hand-Foot-Mouth Disease, mostly caused by a coxsackievirus, is a self-limited viral infection. The symptoms include oral ulcers and blisters, fever, and blisters on extremities [18].
Fifth Disease
Also known as slapped cheek disease or Erythema infectiosum, it is a viral infection characterized by reddish rashes. Human Parvovirus B19 has been identified as the causative agent [19].
Sixth Disease
Exanthem subitum, roseola infantum or Roseola is a viral illness. The causative agent is human herpesvirus 6 (HHV-6) and less frequently human herpesvirus 7 (HHV-7). The skin presentation is maculopapular pink rashes accompanied by high fever [20].
Tinea Capitis
Tinea capitis is a prevalent dermatophytic infection usually caused by Trichophyton tonsurans that presents with alopecia [12, 13].
Tinea Versicolor
Tinea Versicolor, caused by Malassezia furfur, is another common fungal infection that is characterized by hypo-pigmented macules.
Scabies
Scabies is a common skin infestation. The cause is a mite, the hominis variety of Sarcoptes. Pruritus and the subsequent irritability along with typical lesions in examination (burrows) are the key to diagnosis.
Pediculosis
Pediculosis is an infestation caused by lice, and transmission occurs via direct contact. The symptoms start with itching that might lead to secondary lesions like excoriation. The Nits or lice could be visible on the hair or scalp [13].
Sclerema Neonatorum
Sclerema neonatorum is a form of panniculitides that the subcutaneous tissue that becomes hard with wax-like changes. The prognosis is poor, and usually, the pediatrician should suspect a critical underlying health condition [12].
Acne Vulgaris
Acne is a chronic inflammatory skin disease with the involvement of sebaceous glands. The obstruction of the hair follicle results in lesions from comedones, papules, pustules, nodules to cysts [21].
Psoriasis
Psoriasis is a chronic skin condition with typical lesions: scaly erythematous patches resulting from hyperproliferation and inflammation [22].
Dermatitis
Dermatitis with different types is another common pediatric skin disease. Common pediatric types include Atopic, Seborrheic, Irritant Contact Diaper, and Candidal Diaper Dermatitis [12].
Pityriasis Rosea
It is a self-limited skin rash. The eruption begins with a herald patch, a single pink scaly rash that the center is clear. Days or weeks after, it is followed by generalized rashes, which is called the christmas-tree pattern [23].
Erythema Toxicum Neonatorum
Erythema Toxicum Neonatorum is another benign condition described as erythematous macules, papules, and pustules [12].
Erythema Multiforme
It is an acute hypersensitivity reaction in the skin that is triggered by infectious agents or medicines and is self-limited. The skin eruption typical presentation is target lesion (also called iris lesion) [24]. Toxic Epidermal Necrolysis (TEN) and Stevens-Johnson syndrome (SJS) are the severe and life-threatening forms when mucosal involvement is added [25].
Vitiligo
Vitiligo is a skin condition characterized by hypo or depigmented lesions. It is an autoimmune disorder and may be associated with a simultaneous autoimmune disease [13].
Pityriasis Alba
Hypo-pigmented scaly patches that are self-limited [12].
Dermal Melanosis
A congenital pigmented lesion occurs when melanocytes fail to complete their migration from the neural crest to the basal layer of the epidermis [26]. Most of them are found over the lumbosacral area named Mongolian spots [12].
Pyogenic Granuloma
Pyogenic Granuloma, lobular capillary hemangioma, or granuloma telangiectaticum is the reactive proliferation of capillary blood vessels resulting in small round reddish nodules [27].
Port-Wine Stain
Port-Wine Stain or nevus flammeus is one of the most common vascular malformations. It is a birthmark that the name resembles its appearance. The presence indicates the need for evaluation of an associated syndrome or defect [28].
Infantile Hemangioma
Infantile Hemangioma is a benign birthmark, and it is the most common vascular tumor among infants [29].
Nevus Simplex
Nevus Simplex, salmon patches, erythema nuchae, angel's kiss, or stork bite is another vascular birthmark that is formed by the dilation of the capillaries in the dermis [30].
Intertrigo
It is defined as the rashes on skin folds.
Milia
Milia is small yellow or white bump that are usually self-limited with no therapy [12].
Alopecia Areata
Alopecia Areata is a non-scarring type of hair loss, an autoimmune disorder characterized by circumscribed lesions [13].
RESPIRATORY SYSTEM
Respiratory diseases range from acute self-limited conditions like common cold to chronic involvements such as asthma or critical conditions like epiglottitis [31].
Choanal Stenosis (Atresia)
Choanal Stenosis is the congenital narrowing of the back of the nasal cavity connected with the nasopharynx. It is called Choanal Atresia when the connection is totally blocked [32].
Adenoid Hypertrophy
The hypertrophy of the pharyngeal tonsil is called Adenoid Hypertrophy. It leads to obstruction and congestion [33].
Laryngomalacia
Laryngomalacia, the most common cause of stridor in neonates, is the congenital softening of the laryngeal cartilage [34].
Rhinosinusitis
Pediatric Rhinosinusitis is another common health condition associated with the respiratory system that is the inflammation of the paranasal and nasal sinus mucosa. The underlying mechanism could be inflammatory or infectious agents [35].
Epiglottitis
Epiglottitis is inflammation of the epiglottis. The onset is rapid, and it is potentially life-threatening. The tripod positioning (sitting and leaning forward), drooling, dyspnea and tachypnea are the hallmarks for diagnosis [36].
Croup
Croup (Laryngotrachebronchitis) is the infection of the middle respiratory tract mostly caused by parainfluenza viruses. The most important manifestation is respiratory stridor [37].
Bronchiolitis
Bronchiolitis, the leading cause of infant hospitalization, is mostly caused by a viral lower respiratory tract infection. The symptoms include wheezing, dyspnea, and fever, which is usually similar to the common cold. Although it might lead to respiratory failure, the prognosis is good, and the treatment is mainly supportive.
Pneumonia
Pneumonia is defined as the lower respiratory tract infection and is a leading cause of morbidity and mortality among children [37].
Influenza
Influenza is a common respiratory infection that might be self-limited or life-threatening, and it is still a leading cause of mortality and morbidity. Most common symptoms include high fever, headaches, sore throat, diarrhea, runny nose, fatigue, and so on [31].
Asthma
Asthma is a chronic respiratory disease characterized by shortness of breath, cough and wheezing. The underlying etiology is inflammation that results in airway hyper-responsiveness and mucus thickening [37].
Acute Respiratory Distress Syndrome (ARDS)
ARDS is a respiratory failure with sudden onset of lung infiltration. The underlying etiology is inflammation [38].
Transient Tachypnea of the Newborn (TTN)
TTN is a benign and self-limited condition caused by delayed clearance of lung fluid that leads to respiratory distress [39].
Bronchopulmonary Dysplasia (BPD)
It is known as chronic lung disease of premature babies that is the result of a developmental disorder. It leads to a lung airway and vascular dysfunction. BPD is the most common complication among extremely preterm newborns [40].
Meconium Aspiration Syndrome
It is characterized by respiratory distress as the result of aspiration of the amniotic fluid that had been contaminated with the infant’s fecal material called meconium [41].
Cystic Fibrosis
It is an autosomal recessive disease that can be life-threatening. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutation leads to the dysfunction of the chloride channels of the epithelial cells. The disease has various presentations, mostly respiratory and gastrointestinal symptoms [42].
Pneumothorax and Pneumomediastinum
Pneumothorax occurs when the air leaks to the pleural space. Pneumomediastinum or mediastinal emphysema is the presence of air within the mediastinum [43, 44].
Pleural Effusion
It is defined as excess fluid between two layers of the pleura. The presentation varies from asymptomatic to severe respiratory symptoms [45].
Pulmonary Edema
It is the condition that there is excess fluid in the lungs. The symptoms include cough, dyspnea, and tachypnea [46].
Cor Pulmonale
Cor Pulmonale is the result of right ventricular failure due to increases pulmonary hypertension. It can present with dyspnea or syncope [47].
CARDIAC SYSTEM
Despite many advances in medical science, Cardiovascular diseases are still among the leading cause of morbidity and mortality in children. Congenital Heart Diseases, the first cause of congenital malformations, are one of the most common types of birth defects.
Syncope
Syncope is the sudden and transient loss of consciousness and postural muscle tone resulting from autonomic dysfunction [48].
Arrhythmias
Although abnormal heart rhythm or rate occurs less frequently than in adults, they are critical to consider. Dysrhythmias can be atrial, ventricular, or heart blocks [49, 50].
Heart Failure
Heart Failure is a medical condition that the blood pumped by the heart does not meet the demand [51].
Rheumatic Fever
Acute Rheumatic Fever (ARF) is a cardiac disease sequenced by streptococcal infection through inflammatory, immunological reactions. Patients can further develop rheumatic heart disease [52].
Cardiomyopathies (CM)
It is a chronic heart condition that involves the myocardium. It is a group of different types, and the most frequent subtype is dilated CM [53, 54].
Pericarditis
Pericarditis is defined as the inflammation of the pericardium resulting in pericardial effusion [55].
Atrial Septal Defect (ASD)
ASD is one of the most common congenital cardiac anomalies in children resulting from the interruption in the formation of the septum between the two atria [56].
Endocardial Cushion Defect (ECD)
Also known as Atrioventricular Canal Defect or Atrioventricular Septal Defect is the abnormal endocardial cushion development and the atrioventricular valves [57].
Patent Ductus Arteriosus (PDA)
PDA is a congenital heart disease in which the ductus arteriosus fails to close after birth [58].
Ventricular Septal Defect (VSD)
VSD, the most common congenital heart defect in children, is a developmental defect. The defect occurs in the interventricular septum that makes a shunt between ventricles [59].
Tricuspid Atresia
It is a condition that the tricuspid valve is not formed completely or is absent [60].
Pulmonary or Aortic Stenosis
They are birth defects resulting in pulmonary valve obstruction or narrowing. They can be symptomatic or may present with severe symptoms [61].
Coarctation of the Aorta (COA)
COA is a congenital heart disease in the aorta that becomes narrower than usual. The most common site is the insertion of ductus artreiosus [62].
Tetralogy of Fallot
It is the combination of four structural abnormalities: VSD, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta [63].
CIRCULATORY SYSTEM
Diseases related to the circulatory system consist of a wide spectrum of disorders involving the vascular structure and the hematologic system.
Anemia
Anemia is the lack of adequate normal blood cells. It is classified based on the size and amount of hemoglobin. Iron deficiency anemia is the most common form of pediatric anemia [64].
Hemostatic Diseases
Hemostatic Diseases are disorders characterized by impairment in coagulation. The common homeostatic diseases include hemophilia (A and B), von Willebrand disease, factor V leiden (activated protein c resistance), protein S or C deficiency, plasminogen deficiency, dysfibrinogenemia, antithrombin III deficiency, and vitamin K deficiency [65].
Immune Thrombocytopenia (ITP)
ITP, Autoimmune thrombocytopenic purpura (ATP) or Idiopathic thrombocytopenic purpura, is an immune disease that the number of platelet cells decreases, leading to bruising and bleeding [66].
Vasculitis
Henoch–Schonlein purpura (HSP) and Kawasaki disease (KD) are the commonest pediatric vasculitis [67].
Leukemia
Leukemia is cancer that involves the white blood cells precursors in the bone marrow. Acute Lymphoblastic Leukemia (ALL) is the most frequent form [68].
Lymphoma
Lymphoma, the cancer of lymphoid tissue, is classified as Hodgkin and non- Hodgkin [69].
DIGESTIVE SYSTEM
Gastrointestinal symptoms including diarrhea, constipation, reflux, and abdominal pain are among the most common complaints every physician/pediatrician faces.
Cleft Lip and Palate
Cleft lip and cleft palate, also known as orofacial cleft, can occur simultaneously or separately. They might be a part of a genetic syndrome or isolated finding [70].
Esophageal Atresia (EA) with or without tracheoesophageal fistula (TEF)
It is a congenital malformation of the structure of the esophagus. The continuity between the upper and lower pouches of the esophagus is disturbed, usually with a TEF [71].
Esophageal Reflux
Gastroesophageal Reflux (GER) is defined as the retrograde movement of the stomach content into the esophagus. However, when it becomes persistent and symptomatic, it is called Gastroesophageal Reflux Disease (GERD). Symptoms include regurgitation, cough, abdominal pain (heartburn), and it can lead to the child poor growth [72].
Peptic Ulcer Disease
It is defined as the sore or injury by acid secretion in the stomach or duodenum [73].
Gastrointestinal Bleeding (GIB)
GIB is a pediatric medical emergency. The parents could complain the presence of blood either in the emesis or stool of their child [74].
Pyloric Stenosis
Infantile hypertrophic pyloric stenosis (IHPS) is an acquired condition as the result of pylorus hypertrophy. The key presentation is forceful vomiting [75].
Intestinal Atresia
It is a congenital disease of the intestine that is partially or completely blocked [76].
Intestinal Obstruction (IO)
The partial or total blockage of the intestine, presenting with acute abdomen, is a surgical emergency [77].
Malrotation
Malrotation is an abnormally developed intestine when the rotation during fetal life is incomplete [76].
Meckel Diverticulum
It is a congenital defect in the gastrointestinal tract. It is a true diverticulum, an outpouching in the distal ileum [78].
Infantile Colic
Infantile colic is defined as a benign condition that the infant cry more than three hours of the day for more than three days of the week. Rome IV criteria define it as “recurrent and prolonged periods of infant crying, fussing or irritability reported by caregivers that occur without obvious cause and cannot be prevented or resolved” [79].
Gastroenteritis
Gastroenteritis is referred to the inflammation of the stomach and the intestine that results in diarrhea and emesis. It can be due to viral, bacterial, or parasitic infection [80].
Irritable Bowel Syndrome (IBS)
IBS in children usually manifests as abdominal pain and changes in bowel habits. The pediatrician cannot find any anatomical or para-clinical abnormalities in these patients [81].
Inflammatory Bowel Disease (IBD)
IBD is a chronic condition usually classified as Ulcerative Colitis (UC) and Crohn’s Disease (CD). The most important clinical manifestations are abdominal pain, weight loss, fever, and rectal bleeding. UC involves the colon, while in CD, the perianal, ileal, and other parts of the gastrointestinal tract involvement occur, too. Strictures, skip lesions, Granulomas, and fistula are also frequent in CD [82, 83].
Intussusception
It is a medical condition in which a segment of the intestine folds into the section downstream, presenting with crampy abdominal pain [84].
Celiac Disease
It is an immunological disease that the gluten ingestion leads to damage in the small intestine [85].
Lactose Intolerance
Lactose is the main carbohydrate of dairy products. Lactose malabsorption or intolerance is the inability to digest lactose due to the lactase enzyme insufficiency [86].
Hirschsprung Disease (HSCR)
HSCR, also known as congenital aganglionic megacolon, is the congenital absence of ganglion cells in the intestine [87].
Constipation
Constipation is described by the North American Society of Gastroenterology, Hepatology, and Nutrition (NASPGHAN), as “a delay or difficulty in defecation, present for 2 weeks or more, and sufficient to cause significant distress to the patient” [88].
Encopresis
Encopresis is defined as the “repeated, voluntary or involuntary passage of feces, usually of normal or near-normal consistency, in places not appropriate for that purpose in the individual’s own socio-cultural setting”, by the International Classification of Diseases, 10th revision [89].
Imperforate Anus
Imperforate Anus is an anorectal malformation in which the anus has developed incompletely [90].
Gastroschisis
Gastroschisis is a serious abdominal wall defect in which the intestine is herniated and is free [91].
Omphalocele
Omphalocele or exomphalos is a congenital defect in the abdominal wall where the intestine is protruded through the umbilicus. However, the intestine is covered with peritoneum or amniotic membrane [92].
Cholestasis
It is a liver disease that the flow of bile is reduced, characterized by hyperbilirubinemia [93].
Hepatitis
It is the inflammatory condition of the liver, commonly caused by viral infections [94].
Wilson Disease
It is a genetic disorder that excess copper is stored in the liver and other tissues [95].
Pancreatitis
The inflammatory involvement and injury of the pancreas, Pancreatitis, is classified as Acute Pancreatitis (AP), Acute Recurrent Pancreatitis (ARP), and Chronic Pancreatitis (CP) [96].
Peritonitis
Peritonitis is referred to the inflammation of the peritoneum, usually caused by infections [97].
Appendicitis
It is the most common surgical emergency in children and presents with acute abdominal pain [98].
ENDOCRINE SYSTEM
Endocrine and metabolic disorders are among the major health problems of childhood referral to pediatricians. Growth retardation, precocious puberty, diabetes and obesity are among these disorders that can affect the future of a child’s health.
Pubertal Delay
It is defined as the latency in the expected time of sexual development. In girls, the time for puberty is 8 to 13 years, while in boys, 9 to 14 years is considered [99].
Precocious Puberty
Precocious Puberty is referred to as the sexual maturation before the age of 8 years in girls and 9 years in boys [100].
Diabetes Mellitus (DM)
DM is a metabolic disease that the body is not able to use glucose properly. In childhood, DM type one is more frequent, which is an autoimmune disorder in which insulin production is impaired. However, with increasing obesity, the incidence of diabetes type II is also increasing, a type of DM in which the insulin receptor sensitivity is decreased.
Diabetic Ketoacidosis (DKA) is a medical emergency and complication of DM type one [101, 102].
Hypothyroidism
Hypothyroidism is defined as thyroid hormone deficiency. It can be due to thyroid gland insufficiency, which is called primary hypothyroidism. Secondary hypothyroidism is the condition of the pituitary gland that is responsible for the reduced thyroid hormone. When the pathology is in the hypothalamus, tertiary hypothyroidism occurs.
Congenital hypothyroidism is a preventable cause of mental retardation that defects the thyroid gland developmen.
Iodine deficiency also can cause acquired hypothyroidism named endemic cretinism [103, 104].
Autoimmune Thyroiditis (AIT)
AIT is an immunologic thyroid disorder that manifests as primary hypothyroidism.
Hashimoto's thyroiditis, also known as chronic lymphocytic thyroiditis, is the goitrous type that causes acquired hypothyroidism. The non-goitrous type is named atrophic thyroiditis or primary myxedema [105].
Hyperthyroidism
Most cases of hyperthyroidism in children are diagnosed with Grave’s disease. Grave’s disease, also called toxic diffuse goiter, is an autoimmune disease that autoantibodies called Thyroid Stimulating Immunoglobulin (TSI) against receptor for Thyroid-Stimulating Hormone (TSH) are the underlying mechanisms.
Congenital hyperthyroidism is the state that the maternal TSI that crosses the placenta in mothers with Grave’s disease [106, 107].
Primary Adrenal Insufficiency (PAI)
Most cases of PAI are diagnosed with Addison's Disease. Addison's Disease is an autoimmune acquired PAI that results in hypo-cortisolism.
Congenital Adrenal Hyperplasia (CAH) is another type of PAI, a group of genetic disorders with the autosomal recessive inheritance that cortisol production is impaired. 21-hydroxylase deficiency is the most common form [108, 109].
Cushing Syndrome
Cushing Syndrome is the state of hypercortisolism. The source of excess cortisol could be endogenous or exogenous. It is called Cushing disease when the source is a micro-adenoma in the pituitary gland [110].
Metabolic Disorders
Inborn errors of metabolism (IEMs) are not among common pediatric disorders. They are genetic disorders that an enzyme dysfunction leads to impaired proteins, fats and carbohydrates metabolism or affects an organelle function [111].
SKELETAL SYSTEM
The normal function of the skeletal system guarantees normal gait and activity in a child. However, as children’s bones are more elastic, they are prone to various problems. Skeletal problems can range from infections affecting bones and joints to structural problems such as scoliosis and different malignancies of childhood
Osteomyelitis (OM)
It is defined as the infection of bone [112].
Septic Arthritis
Septic Arthritis, joint infection, or infectious arthritis, is a critical condition and is referred to as the bacterial infection of joints [113].
Juvenile Idiopathic Arthritis (JIA)
JIA is the most common pediatric rheumatologic disease. It typically presents with joint inflammation, although life-threatening complications like macrophage activation syndrome may occur, too [114].
Scaphoid Fracture
It is the most frequent carpal fracture in pediatrics [115].
Nurse Maid’s Elbow
Nurse Maid’s Elbow is the radial head subluxation [116].
Glenohumeral Dislocation
Glenohumeral Dislocation is more prevalent in adolescents and usually happens anteriorly [117].
Little Leaguer’s Shoulder
Proximal humeral epiphysiolysis is stress injury or fracture of the epiphyseal cartilage of the proximal humerus [118].
Metatarsus Adductus
Also called metatarsus varus, is a common foot deformity that metatarsal bones that turn inward [119].
Hypermobile Planus
Flatfoot or pes planus is a medical condition as the result of ligaments laxity. Flatfoot could be flexible (hypermobile) or secondary. Hypermobile Planus or Flexible Flatfoot makes no limitation in daily activities [120].
Cavus Foot
Cavus Foot or Pes Cavus is when the medial longitudinal arch of the foot is raised [121].
Talipes Equiovarus (TEV)
TEV also known as Clubfoot Deformity, is the foot deformity in which the foot points downward and inward [122].
Curly Deformity
Curly, underlapping or varus toe is caused by the contracture of the flexor digitorum longus and flexor digitorum brevis tendons [123].
Sever Disease
Calcaneal apophysitis is the common cause of inflammation and pain of heel [124].
Toddler’s Fracture
Toddler’s Fracture is the oblique non-displaced fracture in the distal part of the tibia [125].
Angular Variation (Genu Varum and Valgum)
Genu varum or bowlegs is the condition that the legs curve outward. Genu valgum or knock knees is the opposite [126].
Osteochondritis Dissecans
It is a condition that a small segment of the bone besides the articular cartilage separates from the surrounding area due to vascular deprivation [127].
Baker Cyst
A fluid-filled cyst, also called a popliteal cyst, develops at the back of the knee [128].
Osgood-Schlatter Disease (OSD)
It is a self-limiting condition, the inflammation in the insertion part of the patellar tendon on the tibial tuberosity [129].
Patellofemoral Pain Syndrome (PFPS)
PFPS or Idiopathic Anterior Knee Pain is common among adolescents. The pain increases with knee activity [130].
Developmental Dislocation of the Hip (DDH)
It is a spectrum of structural abnormalities that congenital dislocation of the hip occurs [131].
Leg-Length Discrepancy (LLD)
LLD is the result of femur or tibia differences. It affects the gait and posture of the patient [132].
Torsional Variation (In-toeing and Out-toeing)
Out-toeing is an outward twist to the leg, while in-toeing is the opposite [133].
Legg-Calve-Perthes Disease (LCPD)
LCPD involves the hip joint with idiopathic avascular necrosis in the proximal femoral head [134].
Slipped Capital Femoral Epiphysis (SCFE)
The slippage of the proximal femoral growth plate is an orthopedic emergency. SCFE is one of the important differential diagnoses to be considered in patients presenting with hip pain [135].
Transient Synovitis
Transient Synovitis, a common cause of acute hip pain, is a self-limited inflammatory condition of the hip synovium [136].
Scoliosis
Scoliosis is the abnormal sideways curve of the spine [137].
Kyphosis
Kyphosis is an abnormal forward rounding of the spine [138].
Torticollis
Wryneck is a dystonic condition in the neck tilts [139].
Diskitis
Diskitis is the inflammation of the intervertebral discs of the spine [140].
Salter Harris Fracture
Salter Harris Fracture is the physeal fracture and injury in the growth plate [141].
Osteoid Osteoma
It is a benign bone tumor. One specific finding that helps in diagnosis is that the pain is relieved by Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) like aspirin [142].
Osteochondroma
Osteochondroma, also called osteocartilaginous exostosis or cartilage-capped exostosis is a benign tumor of the bone resulting from cartilage overgrowth [143].
Sarcoma
Sarcoma is a malignant tumor arising from soft tissue or bone [144].
NERVOUS SYSTEM
Nervous system diseases can affect the central or peripheral nervous system. Normal neurological function is a very important factor affecting a child’s normal life and development. Neurological problems include numerous diagnoses ranging from migraines and other headaches to syncope, epileptic syndromes, sleep disorders, movement disorders, motor neuron disorders, and even neurometabolic disorders.
Stroke
Stroke is an ischemic cerebrovascular disease. Although uncommon, it is a critical condition [145].
Seizures
Seizure is a brain condition resulting from abnormal brain neurological activity [146].
Tension Headache
Headache is a commonest neurologic disorder. Tension Headaches are a mild type with no associated symptom.
Migraine
Migraine is a recurrent headache characterized by pounding pain and associated symptoms like vomiting or aura [147, 148].
Meningitis
Meningitis is the inflammation of the meningeal membrane [149].
Encephalitis
Encephalitis is defined as the inflammation of the brain [150].
Transverse Myelitis
Transverse Myelitis is the acute demyelinating inflammation of the spinal cord usually following an infection [151].
Spinal Muscular Atrophy (SMA)
SMA is an inherited disease that affects the anterior horn of the spinal cord [152].
Guillian-Barre Syndrome
It is an autoimmune post-infectious disease that causes inflammation in the peripheral nervous system [153].
Myasthenia Gravis
Myasthenia Gravis is a neuromuscular autoimmune disease. Antibodies block the nicotinic acetylcholine receptor (AChR) at the neuromuscular junction [154].
Duchenne Muscular Dystrophy
It is an X-linked disorder that the muscle tissue replaces with fibrotic tissue [155].
Pseudotumor Cerebri
It is also known as idiopathic intracranial hypertension, a condition in which the intracranial pressures increases [156].
Spina Bifida
It is a birth defect that the vertebral column is not closed properly. Myelomeningocele is the severe type in which the spinal cord and meninges protrude [157].
Holoprosencephaly (HPE)
HPE is the failure of the prosencephalon, and the hemispheres do not develop completely [158].
Hydrocephalus
It is the condition of excess Cerebrospinal Fluid (CSF) in the brain [159].
Neuroblastoma (NB)
It is the cancer of nerve tissue and the most common solid tumor of infancy [160].
GENITOURINARY SYSTEM
Dysfunction of the urogenital system and kidneys can interfere greatly with a child’s normal living. These problems can affect a child from the very early stages of life till later in childhood or adolescence. Among these problems, nephrotic and nephritic syndromes, hypospadias, torsions, refluxes, etc., can be named.
Hypertension
The increased blood pressure can be essential (primary) or secondary. The high prevalence of obesity has made essential hypertension more frequent [161].
Acute Renal Failure (AKI)
AKI is the condition in which a sudden reduction in renal function happens. It is classified to pre-renal (renal hypoperfusion), renal (intrinsic kidney injury) and post-renal (obstruction distal to the kidney) [162].
Chronic Renal Failure
A chronic condition in which the kidney’s ability to filter waste and fluid from the blood decreases [163].
Nephrotic Syndrome
Nephrotic syndrome is diagnosed by heavy proteinuria, hypoalbuminemia, hypercholesterolemia and edema. Nephritic syndrome is characterized by hematuria and proteinuria [164].
Glomerulonephritis (GN)
GN is a group of kidney diseases that injury to Glumeruli occurs. Acute Post Streptococcal Glomerulonephritis (APSGN) is common in children that happens after a sore throat [165].
Hemolytic Uremic Syndrome (HUS)
HUS is a triad of non-immune microangiopathic hemolytic anemia, thrombocytopenia and AKI [166].
Vesicoureteral Reflux (VUR)
VUR is the backward return of urine from the bladder that might result in kidney scarring [167].
Nephrolithiasis
Nephrolithiasis or kidney stones is becoming more frequent. The presentation could be flank or abdominal pain and nausea/vomiting [168].
Wilms Tumor
Also known as nephroblastoma, it is kidney cancer and the most common one [169].
Undescended Testes (UDT)
Undescended testicle or cryptorchidism is the condition that the testicle has not moved down to its accurate position [170].
Testicular Torsion
It is a urology emergency when the spermatic cord twists and cuts off the testicle blood supply [171].
Epididymitis
It is the inflammation of the epididymis that presents with scrotal pain and might be associated with urinary symptoms [172].
Posterior Urethral Valve (PUV)
PUV or Congenital Obstructing Posterior Urethral Membranes (COPUM) is a developmental abnormality that there is an obstructing membrane in the posterior urethra [173].
Chordee
Chordee is the congenital abnormality of the penile curvature [174].
Paraphimosis
It is the condition in which foreskin of the penis (prepuce) becomes trapped behind the coronal sulcus [175].
Phimosis
Phimosis is the inability to pull back the prepuce [176].
Hypospadias
Hypospadias is a condition when the opening of the urethral meatus is located ventrally [177].
Labial Fusion
Labial adhesions, labial agglutination or labial fusion is the adhesion of labia minora. The patient may present with urinary tract infection or urinary symptoms like irritation or dribbling.
Vulvovaginitis
It is the inflammation of the vulva and vagina. Symptoms include discharge, tenderness, pruritus, vulvar irritation, or burning on urination.
