Pediatric sarcoidosis in India

Objective Since 1957, when the first pediatric case of sarcoidosis was reported, 11 more cases have been traced in the Indian literature.Methods : Nine of them were reported from general wards of hospitals (while the remaining 3 were from pediatric unit of AIIMS, New Delhi). Failure of initial treatment with anti-tuberculosis drugs for some months, necessitated search for an alternative diagnosis. Considerable delay (several months to years ) occurred due to several parent-or physiciandependant factors.Result : Affection more in girls (9 to 12), universal fever and constitutional symptoms, loss of weight, scanty lung features, hepatomegaly, often with massive splenomegaly, frequent lymphadenopathy etc. caused initial confution.Conclusion : Treatment with oral steroid or with chloquin and NSAIDS with or without steroid MDI gave equally good results. Long follow-up was done in a few cases only, showing relapses in nearly 66%. One case had a superinfection with acid-fast bacilli.     

Pediatric GIST presenting as anemia

Gastrointestinal stromal tumors (GIST) are tumors of the gastrointestinal (GI) tract originating from the myenteric ganglion cells (interstitial cells of Cajal), that are very rare in children and adolescents. The most common clinical manifestation is acute or chronic, overt or occult GI bleeding although these tumors are asymptomatic in 10–30% of patients. We report a case of gastric GIST in a 11-year-old girl presenting with an iron deficiency refractory anemia without gastrointestinal symptoms and stool evidence of GI bleeding that caused a slight diagnostic delay.     

Childhood sarcoidosis in Denmark 1979-1994: incidence, clinical features and laboratory results at presentation in 48 children

Aim: To describe the incidence, clinical presentation and paraclinical findings in childhood sarcoidosis in Denmark, 1979-1994. Methods: Patients (n = 5536) with a diagnosis of sarcoidosis were drawn from the nationwide Patient Registry; 81 patients were ≤15 y of age. The diagnosis of sarcoidosis was reconfirmed in 48/81 (59%) patients. In 35/48 (73%) patients, diagnosis was verified by histology, and in 13 it was substantiated by paraclinical/clinical findings. Results: The series comprised 26 boys and 22 girls (male/female ratio 1.18). Median age at diagnosis was 13 y (range 0.7-15). In 1979-1994 the incidence was 0.29 per 100 000 person-years ≤15 y of age. The incidence was 0.06 in children ≤4 y of age and increased gradually with age to 1.02 in children aged 14-15 y. General malaise, fever, weight loss, abdominal discomfort, respiratory symptoms, lymphadenopathy and central nervous system symptoms were common; 31% of patients had erythema nodosum, 12.5% sarcoid skin lesions, 25% uveitis/iridocyclitis and 4.2% sarcoid arthritis. Chest X-rays were normal (stage 0) in 10% of patients, and showed pulmonary infiltrates stage I in 71%, stage II in 8.3% and stage III in 8.3%. Lung function tests were examined in 13 patients: 50% had decreased FEV ₁ and vital capacity, 80% decreased D _L CO. Haemoglobin values were normal. Some patients had mild leukopenia, some moderate leukocytosis and a few had moderate eosinophilia. Erythrocyte sedimentation rate was elevated in 40% of the patients. Plasma calcium was elevated in 30% of the patients; 4 patients had severe hypercalcaemia and elevated plasma creatinine, and 1 patient had nephrocalcinosis. Serum angiotensin-converting enzyme was elevated in 55% of the patients. Liver function tests were normal with no sarcoid hepatitis. Urinary examination (glucose, albumin, haemoglobin) was normal in 96% of the patients; the patient with nephrocalcinosis had albuminuria and haematuria.

Conclusion: The incidence of sarcoidosis in Danish children is low and increases with age. Sarcoidosis in young children may present clinical features that are different from the appearance of those in older children and often constitute a diagnostic challenge. In older children, the clinical appearance has many features in common with the presentation in adults.     

SARCOIDOSIS PRESENTING WITH MASSIVE SPLENOMEGALY IN A CHILD WITH A HISTORY OF IRIDOCYCLITIS AND SENSORINEURAL DEAFNESS

Childhood sarcoidosis is a rare multisystemic disorder that can have variable clinical presentations. A triad of skin, eye, and joint involvement is common in children younger than 5 years; however, pulmonary disease is more common in older children, similar to adults. The authors report the case of a 10-year-old girl who presented solely with massive splenomegaly. Her history was significant for iridocyclitis and unilateral sensorineural deafness at 6 and 7 years of age, respectively. A gallium scan showed diffuse splenic uptake, and the pathology of the spleen was consistent with a noncaseating granuloma, with no evidence of malignancy. A work-up for infectious etiology was unremarkable. This case demonstrates that the challenge in diagnosing sarcoidosis in young children stems from its ability to present in several unique clinical scenarios. It also reinforces the importance of tissue evaluation and the exclusion of other differential diagnoses, such as lymphoma, to confirm the diagnosis of sarcoidosis.     

Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: A case report and a review of the literature of Japanese cases

Nine Japanese cases of sarcoidosis in children of 4 years of age or younger have been reported in the literature, including the case presented here. Clinically, preschool sarcoidosis is distinctly different from that of older children; it is characterized by a triad of skin, joint and eye lesions without pulmonary involvement. It is easily confused with juvenile rheumatoid arthritis which also presents the symptoms of arthritis and uveitis. We report on a patient with preschool sarcoidosis who was initially diagnosed as having juvenile rheumatoid arthritis. We recommend prompt skin biopsy to differentiate between these conditions.     

Histiocytic lymphoma following resolution of sarcoidosis

A 32-year-old female who developed respiratory symptoms and hilar and mediastinal lymph node enlargement had a biopsy of a mediastinal lymph node typical of sarcoidosis. The symptoms and lymphadenopathy resolved spontaneously without therapy. Eighteen months later the patient developed recurrent respiratory symptoms and a large anterior mediastinal mass, a biopsy of which showed a diffuse sclerosing histiocytic lymphoma, without evidence of sarcoidosis. The possibility of a common etiologic factor or transformation of sarcoidosis into a histiocytic lymphoma are discussed.     

Budd-Chiari syndrome as presenting symptom of hepatic sarcoidosis in a child, with recurrence after liver transplantation

A seven-yr-old boy presented with a severe Budd-Chiari syndrome, complicated by recurrent thrombosis of several successive TIPSs. Because of liver failure secondary to venous outflow tract obstruction and deterioration of his general condition, an emergency liver transplantation was performed. Steroids were discontinued three months after transplantation, and maintenance immunosuppressive therapy consisted of tacrolimus and azathioprine. Seven years later, this patient presented symptoms of recurrence of venous outflow obstruction in the transplant liver, comparable to the initial event. Histopathology of the liver revealed diffuse granulomatous inflammation with confluent non-caseating granulomas compressing the centrolobular veins. Extensive investigations excluded infections, immune deficiency, and systemic vasculitides. After treatment with a high dose of corticosteroids, the granulomas in the allograft disappeared completely. We report the first case of hepatic sarcoidosis, presenting with venous outflow obstruction and recurring after liver transplantation, in a child.     

Hyper-reactive malarial splenomegaly: Rare cause of pyrexia of unknown origin

Hyper-reactive malarial splenomegaly (HMS) or Tropical splenomegaly syndrome (TSS), occurs in areas of high transmission of malaria. These children usually presents with gross splenomegaly and abdominal discomfort, while fever is not the usual manifestation in majority of them. It is a disease of young adults and rarely reported below 8 years of age. Here it is reported a three-year-old child who presented as pyrexia of unknown origin with hepatosplenomegaly, diagnosed as HMS.     

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

WE DESCRIBE FOUR PATIENTS WITH NIEMANN: Pick disease type C (NPC), in whom the presentation was isolated splenic enlargement; this remained the only abnormality for a number of years. Diagnosis can be suggested by either finding abnormal storage material in a tissue biopsy specimen or by showing a modest elevation in plasma chitotriosidase activity. In patients with suggestive abnormalities, filipin staining of a skin fibroblast sample should confirm the abnormality in cholesterol trafficking. Formal esterification studies and mutation analysis should also be performed, especially if prenatal testing is to be performed in subsequent pregnancies. If the diagnosis is not considered and established, the family are at risk of having further affected children. Investigation of patients with isolated splenomegaly is not complete until NPC has been excluded.     

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C.

WE DESCRIBE FOUR PATIENTS WITH NIEMANN: Pick disease type C (NPC), in whom the presentation was isolated splenic enlargement; this remained the only abnormality for a number of years. Diagnosis can be suggested by either finding abnormal storage material in a tissue biopsy specimen or by showing a modest elevation in plasma chitotriosidase activity. In patients with suggestive abnormalities, filipin staining of a skin fibroblast sample should confirm the abnormality in cholesterol trafficking. Formal esterification studies and mutation analysis should also be performed, especially if prenatal testing is to be performed in subsequent pregnancies. If the diagnosis is not considered and established, the family are at risk of having further affected children. Investigation of patients with isolated splenomegaly is not complete until NPC has been excluded.     

Inhaled corticosteroids for maintenance treatment in childhood pulmonary sarcoidosis

We present our experience with sequential oral and inhaled corticosteroid therapy in childhood pulmonary sarcoidosis. Fifteen children were followed-up for a mean of 7y. Treatment consisted of oral prednisolone 2mg/kg/d on initial diagnosis. After remission was reached, alternate day therapy with 1 mg/kg was continued. The dose was tapered to a maintenance dose which controlled the activity of the disease. When patients were free of symptoms and had no clinical and laboratory findings, inhaled corticosteriod treatment was started. Relapse treatment consisted of cessation of inhaled corticosteroids and start of oral corticosteroids at a dosage of 2 mg/kg/d and then a tapered dose. Five patients were given oral corticosteroids only. Nine patients were given inhaled steroids after oral corticosteroid therapy had been discontinued. Clinical and radiological remissions were achieved in every patient.
Conclusion : Sequential oral and inhaled corticosteroid therapy may be an alternative treatment regimen for sarcoidosis in children.     

Pediatric pericardial tamponade presenting as altered mental status

The purpose of this case report is to illustrate the diagnostic difficulties of pericardial tamponade and to suggest that focused cardiac ultrasound be included in the resuscitative care of pediatric shock. Three cases of cardiac tamponade are presented. Each patient had a syncopal episode and presented with altered mental status and hypotension. Muffled heart tones, distended neck veins, and electrocardiogram and chest radiograph abnormalities were not present. Hypotension was not responsive to intravenous volume expansion treatment. Diagnostic delays would have been prevented if focused cardiac ultrasound had been included in the resuscitative care of shock.     

Early-onset sarcoidosis mimicking refractory cutaneous histiocytosis

A 10-year-old female was diagnosed as having early-onset sarcoidosis (EOS) after a prolonged skin disease. A granuloma emerged on the face at age 2 and massive lesions extended to the rest of the body. Repeated biopsies indicated histiocytic proliferation. At age 7, fever, disseminated macular eruptions, and multinucleated giant cells in the bone marrow prompted vinblastine and prednisolone therapy. Five months after stopping therapy, hypercalcemic crisis occurred along with fever, cytopenias, and interferon-gamma-nemia indicating a macrophage activation syndrome. A biopsy of nodules confirmed the diagnosis of sarcoidosis. The atypical EOS should be differentiated from histiocytosis.     

Sarcoidosis in children. Epidemiology in Danes, clinical features, diagnosis, treatment and prognosis

This paper reviews current knowledge of childhood sarcoidosis with regard to the epidemiology in Danes, clinical presentation, diagnostic procedures, treatment and prognosis. Sarcoidosis is a granulomatous disease of unknown aetiology, with multiorgan involvement. The diagnosis is confirmed by the demonstration of epitheloid cell granulomas in tissue biopsy specimens. During the period 1980-92, three cases of childhood sarcoidosis were recorded in Copenhagen County, which has a total population of 610,000. The approximate incidence of clinically recognized sarcoidosis in Danish children younger than 15 y of age was 0.22-0.27/100,000 children per year, corresponding to approximately three new cases in Denmark each year. The true incidence is unknown, since the disease is often asymptomatic and resolves without a clinical diagnosis being made. In children younger than 5y of age, the disease is characterized by involvement of skin, eyes and joints, whereas in older children involvement of lungs, lymph nodes and eyes predominate. The mainstay of treatment consists of oral corticosteroids. The risk/benefit ratio of using long-term corticosteroids needs to be evaluated in each individual patient. Some patients may benefit from additional therapy with methotrexate. The long-term prognosis is not well established, but it seems to be poorer in children younger than 5 y. Older children appear to have as favourable a prognosis as young adults.     

Lymphoblastic lymphoma presenting as a huge intracavitary cardiac tumor causing heart failure

A huge intracavitary cardiac tumor causing heart failure in a 13-year-old girl was detected by two-dimensional echocardiography and was successfully resected to relieve her life-threatening symptoms. On pathologic examination, the tumor was found to be a nonconvoluted lymphoblastic lymphoma of B-cell lineage rather than a myxoma. This case is reported because of its rarity and unusual mode of growth and presentation, and illustrates that lymphoma should be included in the differential diagnosis of pedunculated cardiac tumors, especially in young individuals. The precise cytologic diagnosis of non-Hodgkin's lymphoma is important because chemotherapy and radiotherapy may achieve palliation or control of the disease.