ABSTRACT
The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic counseling. We herein present the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. Based on the electroclinical findings, epilepsy syndrome diagnosis could be made in 44% (63/142) of the families adopting the latest proposal for the classification by the ILAE task force (2022). Of these, 95% (60/63) of the families exhibited syndromes with developmental epileptic encephalopathy or progressive neurological deterioration. A definitive molecular diagnosis was achieved in 74 of 142 (52%) families. Infantile-onset epilepsy was noted in 81% of these families (61/74). Fifty-five monogenic, four chromosomal, and one imprinting disorder were identified in 74 families. The genetic variants included 65 (96%) single-nucleotide variants/small insertion-deletions, 1 (2%) copy-number variant, and 1 (2%) triplet-repeat expansion in 53 epilepsy-associated genes causing monogenic disorders. Of these, 35 (52%) variants were novel. Therapeutic implications were noted in 51% of families (38/74) with definitive diagnosis. Forty-one out of 66 families with monogenic disorders exhibited autosomal recessive and inherited autosomal dominant disorders with high risk of recurrence.
Subject(s)
Epilepsy , Genetic Counseling , Phenotype , Humans , Epilepsy/genetics , Epilepsy/epidemiology , Epilepsy/diagnosis , India/epidemiology , Male , Female , Child , Child, Preschool , Infant , Genetic Predisposition to Disease , Pedigree , Age of Onset , Genetic Association Studies , Adolescent , Genotype , DNA Copy Number Variations/geneticsABSTRACT
Ewing's Sarcomas (ES)/Peripheral neuroectodermal tumour (pPNET) are heterogenous group of rare, highly malignant, undifferentiated primitive round-cell neoplasms of neuroectodermal origin. pPNETs are seldom observed to involve the spine of which Spinal Intradural Extramedullary Extraosseous Primary ES/pPNET are extremely rare. We report a case of a 23-year-old male with complaints of low backache and hip pain radiating to the left inguinal region for four months. Radiology findings were suggestive of a neurogenic tumour. Cytomorphology, histomorphology and immunohistochemistry evaluation were done. Diagnosis was consistent with ES/pPNET. Careful correlation between clinical history, cytomorphology, histopathology, immunohistochemical and molecular analysis can help to distinguish primary spinal ES/PNET from other primary spinal tumours and will help clinicians to start treatment at the earliest.
ABSTRACT
Hematidrosis (bloody sweat) and hemolacria (bloody tears) are very rare phenomena. The authors herein report hematidrosis and hemolacria occurring together in a 10-year-old girl. The role of propranolol in its treatment is highlighted.
