No abstract

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This syndrome is difficult to diagnose clinically because of its variable phenotype.  Signs and symptoms commonly include hypotonia abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. This condition is characterized by a specific finding on an magnetic resonance imaging (MRI) called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The exact diagnosis is often not made for several years after birth.We present a case of Joubert syndrome in a thirteen year old male with developmental delay, ataxia, mild hypotonia, nystagmus and molar tooth sign on MRI. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counselling and proper rehabilitation.

Tumors of salivary glands are uncommon in children (less than 5%). Hemangioma is the commonest tumor of salivary gland tumors (more than 50%). We report a rare case of infantile hemangioma (IH) of parotid gland.

Henoch-Schonlein purpura (HSP) is the most common vasculitis of childhood and is characterized by leukocytoclastic vasculitis and immunoglobulin A deposition in the small vessels in the skin, joints, gastrointestinal tract and kidney. We report a 6 year old female child presented with rashes over both legs and buttocks along with joint pain and abdominal pain and multiple episodes of vomiting. Patient was diagnosed with HSP and treated with oral prednisolone followed by methylprednisolone and other supportive care.

Background: Tuberculosis (TB) is a major global health problem. Childhood tuberculosis (TB) is common in our community but it is relatively neglected, due to greater challenges in diagnosis. Clinical manifestations of childhood TB differ from adults. The diagnosis in most cases is based on clinical evidence but chest X-ray, Mantoux test, history of Kochs contact, malnutrition and sputum/gastric sample microscopy are important supporting investigations. WHO recommended use of newer diagnostic tests like Gene Xpert in pediatric cases where TB is mostly paucibacillary and identification of TB bacilli is difficult for confirmation of diagnosis.Methods: This prospective study was conducted among admitted and OPD patients in the department of Pediatrics over a period of 1and half year. Clinically suspected cases of TB in the age group 0-12 years who met the diagnostic criteria made the study group. Refusal of consent by parent and children already on TB treatment were excluded from this study. Investigations like chest X-ray, Mantoux test, sputum/gastric aspirate microscopy and Gene Expert were done to confirm the clinical diagnosis.Results: Pulmonary tuberculosis was more common (28%), TB lymphadenitis 22%, TB meningitis 14%, Tubercular Pleural effusion 12 %. and rest were no TB. BCG scar was present in 90%. History of contact was present in 76% and Mantoux test was positive in 76%. Gene Expert was positive only in one case in our study rest 49 cases were negative. The most common symptoms were fever (72%), cough (52%) and weight loss (40%).Conclusions: This study supports that detailed history, clinical evaluation and active investigative workup in addition to newer diagnostic tests like Gene Xpert has a major role in diagnosing childhood tuberculosis.