Himalayan Institute of Medical Sciences
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Item Biotinidase deficiency-masquerade of primary immunodeficiency disease in neonate(PUBMED, 2024-12-15) Chinmay Chetan; Brajendra Singh; Saikat Patra; Girish GuptaBiotinidase deficiency, a rare metabolic disorder characterised by abnormal biotin metabolism, affects the biotin-dependent carboxylase functions. Primarily characterised by neurological and skin disorder, it may present with myriad features. Early recognition is important for preventing long-term morbidities. Here, we describe a case of a neonate presenting with seizures and a clinical picture suggestive of immunodeficiency. Multiple superficial abscesses along with septic arthritis of the left knee and left hip led to suspicion of primary immunodeficiency disorder. On evaluation, there was severe biotinidase deficiency. The neonate was supplemented with biotin, after which there were no further episodes of severe infection requiring hospitalisation, seizures or skin manifestation. This case report highlights the wide spectrum of clinical picture these disorders may present with and the low threshold for their evaluation and treatment.Item Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome(BMJ Publishing Group, 2023-05-31) Saikat Patra; Garima Goyal; Yasir Ahmad Lone; Girish GuptaJoubert syndrome (JS) is a rare ciliopathy that presents with the triad of hypotonia, developmental delay and molar tooth sign (MTS) in brain MRI. Next-generation sequencing has identified about 35 genes which are known to cause JS of which CPLANE 1 mutation is found in 8%-10% of cases. We report a case of JS in an Indian neonate who presented with hypotonia, dysmorphic facies, polydactyly, syndactyly and occipital encephalocele. MRI of the brain revealed MTS, and compound heterozygous mutations in CPLANE 1 gene were detected by clinical exome sequencing, one of them a novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in exon 26, which was inherited from the parents.