KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.

Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait macules and skin fold freckling complicating the diagnosis. A diagnosis of piebaldism was made via exome sequencing that showed a pathogenic variant of KIT gene with no pathogenic variants of NF1 or SPRED1 gene. Our current understanding of the KIT tyrosine kinase function may provide a better explanation into this phenotypic coexistence and does not necessarily represent an overlap with Neurofibromatosis type 1.

Evaluation of Pulmonary Functions in Children with Type 1 Diabetes Mellitus: A Case-Control Study.

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. All the spirometry parameters including FVC, FEV1, FEV1/FVC, PEFR, and MMFR were significantly reduced (p = < 0.001) in T1DM patients when compared with the controls. Compared to the children with fair glycemic control, the children with poor glycemic control were seen to have a significant decrease in FEV1 (p = 0.001) and FVC (p = 0.001) with no significant change in FEV1/FVC ratio (p = 0.9), PEFR (p = 0.4) and MMFR (p = 0.1). Restrictive lung pattern was the most common pulmonary dysfunction in children with T1DM and it worsened with poor glycemic control. This necessitates the need for adequate glycemic control and periodic lung function assessment.

Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome.

BACKGROUND: 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. Hair shaft examination and peripheral blood film findings were suggestive of Chediak Higashi syndrome. MESSAGE: Anti NMDA receptor encephalitis may be associated with Chediak Higashi Syndrome.