A rare case of congenital insensitivity to pain with anhidrosis
Paediatr Int Child Health. 2024 Apr 24:1-4. doi: 10.1080/20469047.2024.2344879. Online ahead of print.ABSTRACTA 22-month-old girl of consanguineous parents was admitted with a high-grade fever. She was found to have insensitivity to painful stimuli and an absence of perspiration. She also displayed self-mutilating behaviour and was insensitive to cold/hot water on her body. On examination, there was loss of the tip of the tongue, missing teeth, generalised xerosis, and several ulcers at sites of minor trauma. She also had dysplastic nails and digital ulcers. Sensory examination demonstrated a complete lack of awareness of ...
Source: Paediatrics and international child health - April 25, 2024 Category: Pediatrics Authors: Vaishnavi Sreenivasan Pediredla Karunakar Sravani Madhileti Jaikumar Govindaswamy Ramamoorthy Reena Gulati Source Type: research

Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report
Paediatr Int Child Health. 2024 Apr 5:1-3. doi: 10.1080/20469047.2024.2335423. Online ahead of print.ABSTRACTOsteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagm...
Source: Paediatrics and international child health - April 5, 2024 Category: Pediatrics Authors: Ashwini Prithvi Dhrithi Kodethoor Sushma K Sanjiv Lewin Source Type: research

Acute demyelinating encephalomyelitis in a child with pulmonary tuberculosis
Paediatr Int Child Health. 2024 Apr 3:1-3. doi: 10.1080/20469047.2024.2335422. Online ahead of print.ABSTRACTTuberculosis is a leading cause of mortality in children worldwide. One of the greatest challenges in its management is the difficulty of diagnosis as the manifestations are non-specific and often mimic other illnesses. Neurological infection occurs in approximately 1% of patients diagnosed with tuberculosis, and usually takes the form of tuberculous meningitis or tuberculoma. An 11-year-old girl who was diagnosed with acute disseminated encephalomyelitis, a rare immunological manifestation of tuberculosis, is prese...
Source: Paediatrics and international child health - April 4, 2024 Category: Pediatrics Authors: Jasmine Singh Pallavi Sharma Shivani Randev Narinder Kaur Pankaj Kumar Vishal Guglani Source Type: research