Graves’ disease

Graves' disease develops when pathogenic thyroid receptor antibodies stimulate the thyroid gland resulting in excessive thyroid hormone production. Children and adolescents with Graves' disease can present in a variety of ways to many different clinical teams with a diverse range of underlying symptoms and signs. Graves' disease is usually managed initially with the anti-thyroid drug (ATD) carbimazole. However, only 20–25 % of young patients remit (remaining euthyroid when the ATD is stopped in the longer term) after a 2 year course of ATD treatment. Some families or patients who relapse then opt for surgery (total thyroidectomy) or radioiodine (RI) rather than returning to ATD. Unfortunately the young person then requires life-long thyroid hormone replacement. This is not an ideal outcome and new therapeutic approaches are needed if patients with Graves’ are to spend their adult lives free of daily medication with ATD or thyroxine replacement. This article discusses the known science and offers advice for diagnosis and treatment options.     

Osteopetrosis—Albers-Schonberg's disease

Summary The literature on osteopetrosis is briefly reviewed. A case report of malignant osteopetrosis in a child of 6 months is reported. From the Department of Pediatrics, M.G.M. Medical College, Indore.     

Crohn’s disease

Crohn’s disease is a chronic inflammatory disease of the gastrointestinal tract and is an important cause of morbidity in children and adolescents. In India Crohn’s disease (CD) was considered a rare disease, however, during the last 10 years CD in adults is being reported from several centers especially in Southern India. CD is characterized by transmural granulomatous inflammation involving any part of the gastrointestinal tract in a discontinuous manner. The peak incidence of Crohn’s disease occurs during the adolescent and young adult years. The clinical presentation and complications are varied and several extraintestinal manifestations have been recognized. The understanding of the pathophysiology has opened new avenues in the management. The recognition of this problem in children and adolescents by pediatricians is necessary for proper diagnosis and management.     

Legg-Calvé-Perthes' disease

The etiology, radiographic classification, and treatment of Legg-Calvé-Perthes' disease remain controversial. Several recent papers focus on these issues in an effort to provide guidance in the clinical care of Perthes' disease. The research studied in this paper lends further support to the hypothesis of clotting abnormalities with vascular thrombosis, which seems to be the most likely etiology for Legg-Calvé-Perthes' disease. Several studies focus on use of magnetic resonance imaging for the early diagnosis and prognosis of Perthes' disease. A few researchers whose work is featured in this paper add information on the treatment of Perthes' disease, supporting surgical treatment for older patients with more severe disease and non-surgical treatment for younger patients with less extensive femoral head involvement.     

Caroli’s disease

Caroli’s disease is a rare congenital disorder, and occasional cases have been reported from Japan and other parts of Asia. It comprises of congenital dilation of the lower (segmental) intrahepatic bile duct. Cholangitis liver, cirrhosis and cholangiocarcinoma are its potential complication. A case of caroli’s disease in an 8-years-old boy with bilobar involvement of liver, (specially affecting right superior lobe) presenting with intermittent abdominal pain, fever and hepatosplenomegaly is reported here.     

Kawasaki disease—Atypical presentation

Kawasaki disease, an acute systemic vasculitis of unknown etiology, is the leading cause of acquired heart disease in children in many parts of the world. It predominantly affects children under 5 years of age and is diagnosed clinically by the presence of characteristic clinical signs. Atypical patients, often younger than 1 year of age, manifest few early signs, usually have an incorrect admitting diagnosis and suffer from high morbidity and mortality. We report the presentation, clinical course and follow -up of a 3-month-old infant with atypical Kawasaki disease.     

„Coronavirus disease 2019“

Monatsschrift Kinderheilkunde -     

Is it Kawasaki disease?

Atypical cases of KD are common (up to 10% of the total) and the diagnosis should be considered without the full complement of diagnostic criteria. The risk of coronary dilation is high if IVIG is not given. Administration of IVIG is effective at preventing aneurysms, if given early. The high-risk groups for coronary artery disease are infants younger than 6 months of age and older children with very high platelet counts, high ESR and fever persisting for more than 2 weeks.     

Celiac disease in India: are they true cases of celiac disease?

BACKGROUND: In a developing country, many conditions other then celiac disease (CD) can give rise to villous atrophy. We therefore assessed the role of immunoglobulin A (IgA)-antigliadin antibody (AGA) in addition to the ESPGHAN criteria in the diagnosis of CD in 104 Indian children. METHODS: Consecutive children with suspected CD were evaluated over 3 years with an intention to diagnose CD. Complete hemogram, d-xylose absorption test, endoscopic duodenal biopsy, and IgA-AGA titers were performed in all. CD was diagnosed on the basis of modified ESPGHAN criteria irrespective of IgA-AGA positivity (>5 U/mL), and those diagnosed were put on gluten-free diet and were monitored regularly. Children with suspected CD who had a normal duodenal biopsy result were taken as controls. RESULTS: The mean age of 50 children with CD was 6.3 +/- 2.6 years, with a male to female ratio of 3:2. The mean duration of symptoms was 3.4 +/- 2.2 years. Predominant symptoms were pallor in 96%, failure to thrive in 92%, and diarrhea in 80%. On follow-up (19.6 +/- 8 months), symptoms subsided within 16 +/- 9.8 days, and patients showed significant weight gain (mean weight at diagnoses and at last follow-up visit were 66% and 86% of expected, respectively; P < 0.001) and height gain (mean height at diagnoses and at last follow-up visit were 88% and 94% of expected, respectively; P = nonsignificant). The control group comprised 47 children with a mean age of 6.9 +/- 3 years. On comparing CD with controls, diarrhea, anemia, low weight, and stunting were significantly (P < 0.001) more frequent in patients with CD. Sensitivity and specificity of AGA at a cutoff value of 5 U/mL were 94% and 91.5% and at 10 U/mL 88% and 100%, respectively. Follow-up AGA test was performed in 42 of 47 positive cases. All showed significant decrease in AGA titer, and 29 (70%) had a negative test result. CONCLUSIONS: Indian children with CD are true cases of CD. They present late, diarrhea is absent in 20% of cases, and AGA test results show 88% of children without false-positive results at a cutoff value of 10 U/mL. However, AGA test with 94% sensitivity at a cutoff value of 5 U/mL can be used as screening test to select suspected cases for further workup.