Infantile myofibroma is a rare and benign tumour of children presenting in the head and neck region. Rendering a final diagnosis of infantile myofibroma can be challenging in the light of nonspecific clinical, radiological findings and its histopathological similarities with a number of neoplasms especially spindle cell tumours. In this paper we discuss a case of infantile myofibroma in a 2-mon...

Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to ...

OBJECTIVE To document the resolution of oscillatory head movements following surgical realignment of the eyes in children with infantile esotropia and nystagmus. METHOD Retrospective review of 3 children who had infantile esotropia, nystagmus, and unexplained head shaking or head nodding. RESULTS Strabismus surgery restored ocular alignment and produced resolution of the head shaking in all...

Infantile soft tissue tumors of the head are very rare and the majority of them are myofibromas. The authors present the case of a 1-day-old boy with a scalp tumor with several distinct histopathological features including myofibroma, hemangiopericytoma, and fibrosarcoma consistent with the diagnosis of composite infantile myofibromatosis. Genetic testing was negative for trisomy 17, translocat...

BACKGROUND Infantile myofibromatosis is a rare mesenchymal disorder of infancy that can extensively involve the viscera including the gastrointestinal tract. CASE PRESENTATION In this report, an exceptional case of infantile myofibromatosis is described in which rectal prolapse and sigmoid colo-colonic intussusception were the initial presentations of colorectal involvement in a 2-month-old p...