Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India

Clinical Rheumatology - Alkaptonuria (AKU) is a rare metabolic disease. The global incidence is 1:100,000 to 1:250,000. However, identification of a founder mutation in a gypsy population from...     

Dermatoglyphics in clinical pediatrics

Summary The ease, simplicity and inexpensiveness of dermatoglyphic analysis and the relative constancy of findings within a given disorder have assurred dermatoglyphics a place in clinical medicine. The methods of study, the mean frequency of patterns among the Indian population and abnormal dermatoglyphics in various disorders are briefly discussed. From the Department of Pediatrics, All India Institute of Medical Sciences, New Delhi-16.     

Deep neck abscess: a prospective study of 54 cases

Deep neck abscesses (DNAs) continue to be commonly encountered in developing countries like India. This study was conducted to determine the changing trends within our population with respect to presentation, aetiology, location and microbiology of DNAs. Fifty-four patients with DNAs who were managed at the Department of ORL and H&N Surgery in our hospital between May 2002 and December 2002 formed the basis of the study. We observed that the high incidence of DNAs could be attributed to lack of awareness, illiteracy and poverty among patients, along with the poor primary health infrastructure. We also recommend early surgical intervention in these cases to decrease the prevalence of complications.     

Silent blast in oral cavity: is the car battery innocuous?

Low voltage energy source is not free from danger. An exceptionally rare and peculiar mode of facial blast injury is reported. The blast took place silently in the mouth of a 15-year-old boy, due to short-circuiting of wires connected to a12-volt car battery while peeling off insulation with the intent of running a musical instrument. Airway compromise due to soft tissue injury produced further problem during tracheostomy. Emergent airway management is discussed. Post-healing sequel resulted in loss of voice and prevented normal oral feeding. The case report emphasizes need for education to public in handling low voltage energy source.     

Unusual presentation of osteoid osteoma mimicking osteomyelitis in a 27-month-old infant

Osteoid osteoma is an uncommon, benign disorder of bone that is most often encountered in school-age children and in adolescents. It is quite rare in children under the age of 3 years. We report a case of osteoid osteoma with unusual clinical and imaging features in a 27-month-old toddler who presented with a limp and swelling of the right knee. Initial clinical evaluation, plain films, and computed tomography (CT) were strongly suggestive of chronic osteomyelitis involving the distal right femoral metadiaphysis. The appearance on nuclear medicine bone scan, however, was typical of osteoid osteoma. A biopsy of the lesion was taken and histological examination confirmed the diagnosis of osteoid osteoma. The misleading clinical and imaging features in this case are discussed.