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Pediatric Chronic Granulomatous Disease


Presentation

  • Two school-aged boys presented with features of, and were initially treated, for community-acquired pneumonia.[ncbi.nlm.nih.gov]
  • We present 3 cases of variant X-linked CGD in an effort to introduce the disease and highlight the importance and limitations of CGD screening.[ncbi.nlm.nih.gov]
  • The potential mechanisms for this delayed and mild presentation of CGD are discussed.[ncbi.nlm.nih.gov]
  • This article presents two male cases, one of whom is aged 18 months and the other is aged 5 years, who were diagnosed with CGD and tuberculosis during examination due to extended pneumonia.[ncbi.nlm.nih.gov]
  • This article discusses an 8-week-old Hispanic male who presented with fever of unknown origin.[ncbi.nlm.nih.gov]
Splenomegaly
  • Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, cytopenias, splenomegaly, and hemophagocytosis by macrophages activated by high cytokine levels.[ncbi.nlm.nih.gov]
  • DANGER SIGNS: failure to thrive, inflammatory anemia, thrombocytopenia, splenomegaly, lymphadenopathy, joint swelling/bone pain, dysmorphia, recurrent serious infections, fever/infectious symptoms every 21 days, unusual or resistant infections, periodontal[hawaii.edu]
Recurrent Infection
  • Chronic granulomatous disease is a rare, inherited immunodeficiency disorder that reduces the superoxide generation ability of phagocytes, leading to recurrent infections and granulomatous inflammation.[ncbi.nlm.nih.gov]
  • Chronic granulomatous disease is a rare primary immunodeficiency disorder, which leads to increased susceptibility to recurrent infections and severe inflammatory manifestations.[ncbi.nlm.nih.gov]
  • Chronic granulomatous disease (CGD) is characterized by recurrent infections, hyperinflammation, and excessive cytokine release. This may predispose patients with CGD to developing HLH during an infection.[ncbi.nlm.nih.gov]
  • Chronic granulomatous disease (CGD), a rare immunodeficiency, typically presents with recurrent infections caused by catalase-positive organisms.[scholars.northwestern.edu]
  • Chronic Granulomatous Disease (CGD) is a rare inherited primary immunodeficiency, which is characterized by recurrent infections due to defective phagocyte NADPH oxidase enzyme. Nowadays, little is known about Chinese CGD patients.[ncbi.nlm.nih.gov]
Fever
  • Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, cytopenias, splenomegaly, and hemophagocytosis by macrophages activated by high cytokine levels.[ncbi.nlm.nih.gov]
  • We present the case of a 15-year-old boy with X-linked CGD who presented with unremitting cough and fevers. He had a left-sided pneumonia that persisted despite home intravenous antibiotics.[ncbi.nlm.nih.gov]
  • This article discusses an 8-week-old Hispanic male who presented with fever of unknown origin.[pediatrics.aappublications.org]
  • […] lupus-like illness, characterized by arthralgia, cutaneous manifestations of lupus erythematosus, and photosensitivity, occurred in two mothers of boys with chronic granulomatous disease; one mother also had Raynaud's phenomenon, pleuritis, and unexplained fevers[annals.org]
Anemia
  • Hematological manifestations such as thrombocytopenia and hemolytic anemia are the most common presentations.[ncbi.nlm.nih.gov]
  • Hypergammaglobulinemia and anemia can occur; ESR is elevated.[merckmanuals.com]
  • […] kills microorganisms in lysosomes Either Y linked or autosomal recessive Diagnose with nitro blue tetrazolium test (almost always positive) Clinically, patients have recurrent lymphadenitis, hepatosplenomegaly, skin rash, pulmonary edema Laboratory Anemia[pathologyoutlines.com]
  • Most common presentation is a young patient with short stature, dermatitis, gingivitis, anemia of chronic disease, recurrent lymphadenopathy, hepatosplenomegaly, hepatic abscesses and multifocal, recurrent osteomyelitis.[radiopaedia.org]
  • Phone: 617-636-5535 Fax #: 617-636-7738 Childhood cancers including leukemia, lymphoma and solid tumors, anemia and bleeding disorders, thrombosis View Full Profile Susan K.[floatinghospital.org]
Chills
  • The most common side effects with ACTIMMUNE are “flu-like” symptoms such as fever, headache, chills, muscle pain, or fatigue, which may decrease in severity as treatment continues.[actimmunehcp.com]
Increased Susceptibility to Infections
  • In addition to increased susceptibility to infections in patients with chronic granulomatous disease (CGD), a higher incidence of sterile inflammatory disorders in these patients has been noted.[ncbi.nlm.nih.gov]
Aspiration
  • We describe a 2-year-old boy who was seemingly healthy at the age of 1 year when a conventional chest radiograph was taken to exclude pulmonary aspiration of a piece of apple.[ncbi.nlm.nih.gov]
  • Diagnostics for primary immunodeficiencies includes a medical history, physical exam, sophisticated blood tests, bone marrow aspirate and biopsy, molecular analysis and DNA sequencing.[uchicagokidshospital.org]
  • Results of a bone marrow biopsy and aspiration demonstrated cytopenia, and one hemophagocytic histiocyte (within normal limits). The soluble IL-2 receptor level was elevated at 17 035 U/mL.[pediatrics.aappublications.org]
Sputum
  • Emericella nidulans var. echinulata was isolated from his sputum. After starting voriconazole, Rasamsonia piperina was isolated from the rib swelling.[ncbi.nlm.nih.gov]
Diarrhea
  • We report the fatal case of a 4-year-old boy with chronic granulomatous disease, who presented with sepsis after a few days of abdominal pain and diarrhea.[ncbi.nlm.nih.gov]
  • Diarrhea, colitis, ileus, perirectal abscess formation and anal fissures are reported gastrointestinal findings in these patients. We report a case of intractable colitis associated with CGD in a young girl.[ncbi.nlm.nih.gov]
  • Lymphadenomegally, suppurative infections, pneumonia, diarrhea were the most noted initial complaints. All parents were consanguineous. The clinical features were mild; and the ages of diagnosis were late in patients with p47 and p67 defect.[ncbi.nlm.nih.gov]
  • Common side effects of antibiotics include diarrhea and upset stomach. Infections from fungi, like Aspergillus species, can be very serious for people with CGD.[cgdconnections.com]
Chronic Diarrhea
  • diarrhea ear infections osteomyelitis failure to thrive Physical exam short stature eczematoid dermatitis hepatomegaly lymphadenopathy Evaluation Flow cytometry reduction of dihydrorhodamine abnormal can detect X-linked carrier status cannot differentiate[medbullets.com]
  • .; most common clinical findings are lymphadenopathy, hypergammaglobulinemia, hepatomegaly, splenomegaly, anemia of chronic disease, underweight, chronic diarrhea, short stature, gingivitis, and dermatitis; diagnosis made by NBT, flow cytometry, or cytochrome[hawaii.edu]
Oral Ulcers
  • We describe a patient who presented at 9 years of age with oral ulcers and cutaneous lesions, meeting diagnostic criteria for Behçet disease.[ncbi.nlm.nih.gov]
Hepatosplenomegaly
  • In addition, septicopyemia, thrush, and hepatosplenomegaly were also commonly observed, accounting for 23%, 23%, and 40% of the cases. Lesions due to BCG vaccination occurred in more than half of the patients.[ncbi.nlm.nih.gov]
  • Multifocal and recurrent unusual osteomyelitis, recurrent hepatic abscesses, hepatosplenomegaly, and lymphadenitis. For lung involvement see - pulmonary manifestations of chronic granulomatous disease .[radiopaedia.org]
  • […] monocytes White blood cells cannot generate superoxide ion which kills microorganisms in lysosomes Either Y linked or autosomal recessive Diagnose with nitro blue tetrazolium test (almost always positive) Clinically, patients have recurrent lymphadenitis, hepatosplenomegaly[pathologyoutlines.com]
  • Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. Growth may be delayed.[merckmanuals.com]
  • Since its first description in the 1950s as a syndrome of recurrent infections, hypergammaglobulinemia, hepatosplenomegaly, and lymphadenopathy in males who invariably died in the first decade of life, notable advances have been made in the understanding[thehealthscience.com]
Hepatomegaly
  • […] recurrent pyogenic infections recurrent infection with catalase-positive organisms pneumonias aspergillosis skin abscesses pulmonary abscesses chronic diarrhea ear infections osteomyelitis failure to thrive Physical exam short stature eczematoid dermatitis hepatomegaly[medbullets.com]
  • ., lymphadenopathy or hepatomegaly) is “normal” for these patients. These findings usually indicate that there is significant pathology ongoing and it is important to make a definitive diagnosis and treat accordingly.[clinicaladvisor.com]
  • .; most common clinical findings are lymphadenopathy, hypergammaglobulinemia, hepatomegaly, splenomegaly, anemia of chronic disease, underweight, chronic diarrhea, short stature, gingivitis, and dermatitis; diagnosis made by NBT, flow cytometry, or cytochrome[hawaii.edu]
Cutaneous Manifestation
  • Abstract Chronic lupus-like illness, characterized by arthralgia, cutaneous manifestations of lupus erythematosus, and photosensitivity, occurred in two mothers of boys with chronic granulomatous disease; one mother also had Raynaud's phenomenon, pleuritis[annals.org]
  • Cutaneous manifestations of chronic granulomatous disease. A report of four cases and review of the literature. J Am Acad Dermatol. 1997 Jun. 36(6 Pt 1):899-907. [Medline]. Gallin JI, Malech HL. Update on chronic granulomatous diseases of childhood.[emedicine.medscape.com]
Skin Ulcer
  • Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed.[ncbi.nlm.nih.gov]

Workup

  • Pneumonia Abscesses throughout the body and in organs Cellulitis Septic arthritis Osteomyelitis Bacteremia and invasive fungal infections Diagnostic Workup for Pediatric Chronic Granulomatous Disease Once the diagnosis of chronic granulomatous disease[lecturio.com]
  • We would repeat a CBC and ESR in 3-4 days and institute a full workup if they are not improving rapidly at the same rate expected for a normal child.[clinicaladvisor.com]
Mediastinal Mass
  • Incidentally, a space-occupying mediastinal mass was revealed that was further evaluated by magnetic resonance imaging. Varying solid and also cystic, septated parts of the mass could be discerned and it was considered to be a teratoma.[ncbi.nlm.nih.gov]
Cavitary Lesion
  • Lesions those are contiguous with the great vessels or the pericardium, single cavitary lesion that cause hemoptysis, lesions invading the chest wall, aspergillosis that involves the skin and the bone are the indications for surgical therapy.Chronic granulomatous[ncbi.nlm.nih.gov]
Fusarium
  • Species of the genus Fusarium are opportunistic environmental microorganisms that are rarely pathogenic in humans. We report here the first case of X-linked CGD complicated with epidural abscess caused by Fusarium falciforme infection.[ncbi.nlm.nih.gov]
Granulomatous Tissue
  • Chronic granulomatous disease (CGD) is a life threatening inherited disorder with varied clinical presentations often characterized by recurrent bacterial and fungal infections along with widespread granulomatous tissue response.[ncbi.nlm.nih.gov]
  • Infection of the bones (osteomyelitis), brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue, and delayed growth are also symptomatic of chronic granulomatous disease.[rarediseases.org]

Treatment

  • Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD.[ncbi.nlm.nih.gov]
  • Voriconazole is recommended for the primary treatment of invasive aspergillosis in most patients.[ncbi.nlm.nih.gov]
  • Remission of HLH was achieved after treatment with antimicrobials, steroids, and intravenous immunoglobulin This approach to treatment appears to be effective.[ncbi.nlm.nih.gov]
  • We describe an unusual case of invasive cutaneous aspergillosis presented as a large burgeoning tumor in a 4-year-old girl with CGD who underwent surgical treatment for bifocal osteomyelitis of the left leg.[ncbi.nlm.nih.gov]
  • He did not have any exacerbation for more than 18 months after the final transcatheter treatment. This is the first reported case of successful transcatheter arterial antimicrobial and steroid therapy for refractory hepatic abscess in CGD.[ncbi.nlm.nih.gov]

Prognosis

  • Patients with chronic granulomatous disease (CGD) complicated by antimycotics-refractory invasive aspergillosis have an extremely poor prognosis if they cannot undergo allogeneic hematopoietic stem cell transplantation from a suitable related donor while[ncbi.nlm.nih.gov]
  • […] reduction test (NBT) and Dihydrorhodamine (DHR) with PMA stimulation by flow cytometry are quick, simple, sensitive and specific laboratory tests that help establish early and reliable diagnosis of CGD with an overall improvement in survival and disease prognosis[ncbi.nlm.nih.gov]
  • Different patterns of laboratory tests and prognosis were observed and girls had a better evolution.[ncbi.nlm.nih.gov]
  • Prognosis The prognosis has greatly improved with the use of antibacterial and antifungal prophylaxis therapy, with most patients living well into adulthood. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • , Prevention, and Complications Prognosis improving with treatment 50% survival rate to age 30-40 Prevention good skin hygiene antifungals and antibiotics Complications severe fungal infections are often determinant of survival Please rate topic.[medbullets.com]

Etiology

  • Vertebral osteomyelitis is known to occur in chronic granulomatous disease, a phagocytic disorder and the etiology is usually a fungus.[ncbi.nlm.nih.gov]
  • The diagnosis should be considered early in the etiological investigation of any suspicious skin lesions in CGD even in uncommon aspects such as burgeoning tumors.[ncbi.nlm.nih.gov]
  • Failure of adequate therapy for acute community-acquired pneumonia and rapid progression to respiratory failure should lead to the possibility of fungal etiology.[ncbi.nlm.nih.gov]
  • The initial diagnostic evaluation demonstrated pathologic hyperactive inflammation, meeting the HLH-2004 diagnostic criteria without an identified infectious etiology.[ncbi.nlm.nih.gov]

Epidemiology

  • Introduction Chronic granulomatous disease (CGD) is a rare primary immunodeficiency of phagocytes Genetics X-linked recessive (mainly) autosomal recessive disease is milder both result in deficiency in NADPH oxidase Epidemiology males females due to inheritance[medbullets.com]
  • Summary Epidemiology The average worldwide birth prevalence is estimated at 1/ 217,000. Clinical description CGD can present at any age but is most commonly diagnosed before the age of 5 years.[orpha.net]
  • Epidemiology Frequency United StatesThe exact incidence of chronic granulomatous disease is unknown.[thehealthscience.com]
  • Epidemiology of Pediatric Chronic Granulomatous Disease Chronic granulomatous disease is a hereditary disorder that is equally identified in all ethnicities and races.[lecturio.com]
Sex distribution
Age distribution

Pathophysiology

  • Specific sections deal with Physiology and Pathophysiology, Clinical Presentation of Disease, Clinical Manifestations and Management (discussing the Mouth and Esophagus, The Stomach and Duodenum, The Intestine, and The Pancreas), Diagnosis of Gastrointestinal[books.google.com]
  • Pathophysiology In response to phagocytosis, neutrophils increase their oxygen consumption, which has been termed the respiratory or oxidative burst.[thehealthscience.com]
  • Susceptibility to Catalase Positive Organisms “BEANS” B urkholderia cepacia E nterobacteriaceae A spergillus N ocardia S taph aureus Pathophysiology of Pediatric Chronic Granulomatous Disease Once neutrophils phagocytose bacteria and other pathogens,[lecturio.com]
  • Neutrophil function disorders: pathophysiology, prevention, and therapy. J Pediatr. 1991 Sep. 119(3):343-54. [Medline].[emedicine.medscape.com]
  • Leukocyte adhesion defect I: Pathophysiology is the lack of an adhesion receptor resulting in impaired chemotaxis, adhesion, and phagocytosis; inheritance autosomal recessive; rare with 60 cases reported; clinically characterized by moderate to severe[hawaii.edu]

Prevention

  • This activity can partially explain the long-term survival of the patients without adequate diagnosis and treatment, but could not prevent progressing lung damage.[ncbi.nlm.nih.gov]
  • The mortality rate has fallen with modern preventative treatments of antibiotics, antifungals, and interferon therapy.[danafarberbostonchildrens.org]
  • In patients with frequent infections, daily small dose of antibiotics (commonly used antibiotic is cotrimoxazole) can help to prevent infection.[pediatriconcall.com]
  • The best treatment plan for CGD is prevention from infection. The following tips can help prevent infection: Avoid swimming in water other than chlorinated pools.[healthline.com]
  • , and Complications Prognosis improving with treatment 50% survival rate to age 30-40 Prevention good skin hygiene antifungals and antibiotics Complications severe fungal infections are often determinant of survival Please rate topic.[medbullets.com]

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