Publications by authors named "Nijaguna Nanjundappa"
Article Synopsis
- Piebaldism is a rare genetic disorder characterized by congenital leukoderma due to a mutation in a specific proto-oncogene receptor tyrosine kinase.
- A 10-year-old boy was diagnosed with piebaldism after presenting with depigmented macules, café au lait macules, and skin fold freckling, which complicated the diagnosis.
- Exome sequencing confirmed the diagnosis by identifying a pathogenic variant, enhancing our understanding of the tyrosine kinase function, and clarifying that these symptoms do not imply an overlap with Neurofibromatosis type 1.
Type 1 diabetes mellitus (T1DM) is one of the most prevalent chronic diseases in children and adolescents with the risk of development and progression of chronic complications. This study evaluates the pulmonary functions with spirometry in children with T1DM in relation with glycemic control. Ninety-six children with T1DM were matched with 102 healthy controls.
View Article and Find Full Text PDFBackground: Neurological manifestations of Chediak-Higashi syndrome mainly include peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.
Case Characteristics: A 2 years 10 month old girl with silvery hair syndrome presented with sub-acute onset behavioral issues, ataxia and multiple type abnormal movements. Cerebrospinal fluid examination was positive for Anti NMDA receptor antibodies.