ABSTRACT
A case is presented of a newborn infant with severe fetomaternal transfusion, which resulted in profound anemia and early demise.
Subject(s)
Anemia, Neonatal/diagnosis , Cytomegalovirus Infections/diagnosis , Fetomaternal Transfusion/diagnosis , Pregnancy Complications, Infectious/diagnosis , Adolescent , Anemia, Neonatal/etiology , Cause of Death , Cytomegalovirus/isolation & purification , Cytomegalovirus/pathogenicity , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/congenital , Fatal Outcome , Female , Fetomaternal Transfusion/complications , Gestational Age , Humans , Infant, Newborn , Male , PregnancySubject(s)
Diffuse Cerebral Sclerosis of Schilder/diagnosis , Diffuse Cerebral Sclerosis of Schilder/pathology , Status Epilepticus/diagnosis , Status Epilepticus/pathology , Anemia/diagnosis , Anemia/pathology , Anemia/physiopathology , Child, Preschool , Developmental Disabilities/diagnosis , Developmental Disabilities/pathology , Developmental Disabilities/physiopathology , Diagnosis, Differential , Diffuse Cerebral Sclerosis of Schilder/physiopathology , Female , Humans , Immunohistochemistry , Liver Diseases/diagnosis , Liver Diseases/pathology , Liver Diseases/physiopathology , Magnetic Resonance Imaging , Mitochondria/enzymology , Muscle Fibers, Skeletal/chemistry , Muscle Fibers, Skeletal/pathology , Muscle Hypotonia/diagnosis , Muscle Hypotonia/pathology , Muscle Hypotonia/physiopathology , Optic Atrophy/diagnosis , Optic Atrophy/pathology , Optic Atrophy/physiopathology , Prostaglandin-Endoperoxide Synthases/analysis , Seizures/diagnosis , Seizures/pathology , Seizures/physiopathology , Status Epilepticus/physiopathologyABSTRACT
With the advent of vaccine protection for many diseases, many of today's practitioners have never seen cases of what were the common childhood diseases. If any of these diseases returns, there is a risk that the practitioner will not recognize it. This article tries to establish why the diseases may return and to describe the diseases with photographs.
Subject(s)
Chickenpox , Communicable Diseases , Erythema Infectiosum , Measles , Mumps , Rubella , Chickenpox/complications , Chickenpox/physiopathology , Chickenpox/therapy , Child , Child, Preschool , Communicable Diseases/complications , Communicable Diseases/physiopathology , Communicable Diseases/therapy , Erythema Infectiosum/complications , Erythema Infectiosum/physiopathology , Erythema Infectiosum/therapy , Humans , Measles/complications , Measles/physiopathology , Measles/therapy , Mumps/complications , Mumps/physiopathology , Mumps/therapy , Rubella/complications , Rubella/physiopathology , Rubella/therapyABSTRACT
We present an unusual case of the rare occurrence of lethal infantile cortical hyperostosis (Caffey disease). Clinical and Pathological aspects are discussed.
Subject(s)
Bone and Bones/pathology , Hyperostosis, Cortical, Congenital/pathology , Diagnosis, Differential , Fatal Outcome , Female , Humans , Infant, Newborn , Polyhydramnios/complications , PregnancyABSTRACT
An 11 year old girl with known diagnosis of lupus erythematosus with nephritis was admitted with respiratory distress during an episode in which she had infection with varicella-zoster virus complicated by purpura fulminans. She had a downhill course, terminating with a pulmonary embolus.
Subject(s)
Chickenpox/complications , IgA Vasculitis/etiology , Lupus Erythematosus, Systemic/complications , Venous Thrombosis/complications , Chickenpox/diagnosis , Child , Fatal Outcome , Female , Humans , IgA Vasculitis/pathology , Lupus Erythematosus, Systemic/diagnosis , Lupus Nephritis/complications , Lupus Nephritis/diagnosis , Protein S Deficiency/etiology , Pulmonary Embolism/etiology , Venous Thrombosis/pathologyABSTRACT
A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).
Subject(s)
Abnormalities, Multiple/physiopathology , Cardiomyopathies/physiopathology , Genetic Diseases, X-Linked/physiopathology , Abnormalities, Multiple/genetics , Acyltransferases , Adolescent , Cardiomyopathies/etiology , Cardiomyopathies/genetics , Carnitine/deficiency , Diagnosis, Differential , Genetic Diseases, X-Linked/genetics , Humans , Male , Methylenetetrahydrofolate Reductase (NADPH2)/deficiency , Muscular Dystrophy, Duchenne , Proteins/genetics , Transcription Factors/geneticsSubject(s)
Crohn Disease/complications , Granulomatous Disease, Chronic/complications , Infections/complications , Williams Syndrome/complications , Adult , Crohn Disease/pathology , Female , Granulomatous Disease, Chronic/microbiology , Granulomatous Disease, Chronic/pathology , Humans , Infections/genetics , Infections/microbiology , Williams Syndrome/geneticsSubject(s)
Hepatitis, Viral, Human/complications , Hepatitis, Viral, Human/pathology , Herpes Simplex/complications , Herpes Simplex/pathology , Liver Failure/complications , Renal Insufficiency/complications , Fatal Outcome , Female , Hepatitis, Viral, Human/congenital , Herpes Simplex/congenital , Humans , Hypothermia/complications , Infant, Newborn , Liver/pathologySubject(s)
Demyelinating Diseases/congenital , Diseases in Twins/congenital , Autonomic Nervous System/pathology , Demyelinating Diseases/genetics , Demyelinating Diseases/pathology , Diseases in Twins/genetics , Diseases in Twins/pathology , Humans , Infant, Newborn , Male , Respiratory Insufficiency/etiology , Respiratory Insufficiency/pathology , Respiratory System/innervation , Triplets , Twins, MonozygoticSubject(s)
Fever/etiology , Lymphatic Diseases/pathology , Meningitis, Viral/diagnosis , Shock, Septic/pathology , Streptococcal Infections/diagnosis , Black People , Child , DNA, Viral/analysis , Diagnosis, Differential , Epstein-Barr Virus Infections/diagnosis , Fatal Outcome , Female , Herpesvirus 4, Human/isolation & purification , Humans , In Situ Hybridization, Fluorescence , Lymph Nodes/pathology , Lymph Nodes/virology , Lymphatic Diseases/diagnosis , Lymphatic Diseases/virology , Meningitis, Viral/complications , Streptococcal Infections/complications , Tomography, X-Ray ComputedABSTRACT
A clinicopathologic case is presented. The patient was a 12-year-old white girl with a history of fatigue and dizziness, occasional nausea and vomiting, and anemia, who showed abdominal distention, especially in the epigastrium. An epigastric mass was palpable. Gastroscopy was done, and surgery followed. Pertinent laboratory findings are presented, and clinical discussion follows. The pathology is then presented and discussed.
Subject(s)
Stomach Neoplasms/pathology , Stomach Neoplasms/physiopathology , Abdomen/pathology , Anemia/etiology , Child , Diagnosis, Differential , Edema/etiology , Fatigue/etiology , Female , Humans , Immunohistochemistry , Liver Neoplasms/secondary , Lung Neoplasms/secondary , Microscopy, Electron , Nausea/etiology , Stomach Neoplasms/surgery , Vomiting/etiology , Weight LossSubject(s)
Abnormalities, Multiple/physiopathology , Hepatomegaly/etiology , Hypoproteinemia/etiology , Liver/enzymology , Seizures/etiology , Abnormalities, Multiple/genetics , Autopsy , Female , Hepatomegaly/genetics , Hepatomegaly/pathology , Humans , Infant , Kidney/abnormalities , Liver/pathologyABSTRACT
An 18-month-old boy with severe combined immunodeficiency (SCID) due to an IL2-y-receptor defect had a successful engraftment following a related mismatched allogenic bone transplant. He subsequently developed post-transplantation lymphoproliferative disorder, with severe respiratory infection which resulted in death. The case presentation is followed by a discussion with differential diagnosis of the clinical findings, and then by a discussion of the pathology found and the implications of this diagnosis.
Subject(s)
Bone Marrow Transplantation/adverse effects , Respiratory Tract Infections/mortality , Severe Combined Immunodeficiency/therapy , Antigens, CD20/biosynthesis , B-Lymphocytes/pathology , Diagnosis, Differential , Female , Fever/complications , Humans , In Situ Hybridization , Infant , Liver/pathology , Lymphoproliferative Disorders/complications , Lymphoproliferative Disorders/etiology , Male , Receptors, Interleukin-2/genetics , Severe Combined Immunodeficiency/complications , Severe Combined Immunodeficiency/diagnosisSubject(s)
Hemorrhage/etiology , Hepatomegaly/etiology , Histiocytosis, Non-Langerhans-Cell/diagnosis , Splenomegaly/etiology , Bronchitis/complications , Bronchitis/microbiology , Child , Fatal Outcome , Hepatomegaly/pathology , Histiocytosis, Non-Langerhans-Cell/genetics , Histiocytosis, Non-Langerhans-Cell/microbiology , Histiocytosis, Non-Langerhans-Cell/pathology , Humans , Klebsiella Infections/complications , Male , Splenomegaly/pathology , Tracheitis/complications , Tracheitis/microbiologyABSTRACT
A case is presented of a female newborn infant delivered with an Apgar Score of 1, who could not be resuscitated. There was a high arched palate, bell-shaped chest, contractures of writes inflexion, ankles and knees in extension, and intrauterine fractures. Clinical discussion led to a diagnosis of arthrogryposis secondary to fetal akinesia syndrome caused by nemaline myopathy. Pathology and pathologic discussion confirmed this diagnosis.
Subject(s)
Arthrogryposis/diagnosis , Hypokinesia/diagnosis , Myopathies, Nemaline/diagnosis , Abnormalities, Multiple/diagnosis , Adult , Arthrogryposis/mortality , Arthrogryposis/pathology , Craniofacial Abnormalities/diagnosis , Female , Fetal Diseases/diagnosis , Humans , Hypokinesia/complications , Infant, Newborn , Lung/abnormalities , Movement Disorders , Myopathies, Nemaline/mortality , Myopathies, Nemaline/pathology , Pregnancy , Thorax/abnormalitiesABSTRACT
The dedication of this volume states:To the physicians and nurses who care for children in many different circumstances throughout the world and who, by their efforts and commitment, make the world a better place for children.I have used the Nelson Textbook of Pediatrics since its third edition. It remains a source of amazement to me, as I witness the evolution of the book and of the knowledge that dictates its scope. From the days when a textbook was written by 1 or 2 authors, we have progressed to the point where this would be impossible. Three editors preside over this volume; they are also counted among the 212 contributors that lend special expertise to the work, continuing the volume as one of the traditions of pediatrics.The tremendous and rapid explosion in the amount of knowledge in pediatrics made a revision of the total material and even of.
