Absence of Nails, Deaf-mutism, Seizures, and Intellectual Disability: A Case ReportCorrespondence Address :
Dr. Lal DevayaniVasudevan Nair,
4-1, East Mada Street, Srinagar Colony, Saidapet, Chennai-15, India.
Seizures coexists in children with intellectual disability and are often attributed to neural dysfunction associated with it. Often a careful clinical examination will unravel many diagnostic pointers as in this 8-year-old child with global development delay, deaf-mutism and moderate intellectual disability (mental retardation) who presented with seizures in the emergency department. General examination revealed dysmorphic features like anonychia, low set ears, long philtrum, large lower lips and abnormal dermatoglyphics with features of osteodystrophy on radiology. She was diagnosed as a case of DOORS syndrome, an extremely rare genetic condition affecting the TCA cycle, with just over 40 cases reported, worldwide till date, since its first description in 1961. Her genetic analysis did not reveal the common TBC1D24 mutation in 16p13.3 resulting often from substitutions affecting the arginine at position 242, in spite of all classical clinical features associated with it, suggesting genetic heterogeneity in DOORS syndrome. Though four year follow-up revealed changes in seizure pattern, there was no optic atrophy, change in IQ or peripheral nerve problem. This probably suggests that children with typical clinical features and TBC1D24 mutations may have more progressive deterioration than those without it and newer molecular techniques may identify unexplained phenotypic expressions.
Absent nails, Developmental delay, Door syndrome, Dysmorphia, Onychodystrophy
Date of Submission: Nov 12, 2014
Date of Peer Review: Feb 12, 2015
Date of Acceptance: Feb 16, 2015
Date of Publishing: Apr 01, 2015
Financial OR OTHER COMPETING INTERESTS: None.
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