X-Linked Thrombocytopenia and Vanishing White Matter Disease in a Child: Double Tragedy
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LETTER TO EDITOR
X-Linked Thrombocytopenia and Vanishing White Matter Disease in a Child: Double Tragedy Rakesh Kumar Pilania 1 & Gummadi Anjani 1 & Arushi Gahlot Saini 2
&
Romit Jain 3 & Deepti Suri 1 & Amit Rawat 1
Received: 21 April 2020 / Accepted: 25 August 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Keywords Leucoencephalopathy . primary immunodeficiency disease . vanishing white matter . Wiskott–Aldrich syndrome . X-linked thrombocytopenia
Abbreviations EEG Electroencephalogram MRI Magnetic resonance imaging XLT X-linked thrombocytopenia VWM Vanishing white matter WAS Wiskott–Aldrich syndrome
Dear Sir, Although single-gene defects cause most Mendelian disorders, advances in genomic sequencing and availability of high-throughput techniques have led to the identification of several novel genetic variants at times in more than one gene. Recent literature also highlights that 5–7% of patients with genetic disorders may have ‘blended phenotypes’ due to the pathogenic variants in multiple genes [1, 2]. We discuss a similar and an intriguing case of a blended phenotype of two genetic disorders. A 12-year-old boy presented with recurrent episodes of headache for the past 1 year. The headaches were moderate to severe in intensity, localized to the bifrontal area, and were associated with neck pain and phonophobia. At times, there was associated brief loss of consciousness with headache episodes. There was no history of intermittent or persistent fever, * Arushi Gahlot Saini [email protected] 1
Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India
2
Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India
3
Rainbow children hospital, Hyderabad, India
signs of localized or generalized infection, seizures, alteration in sensorium, focal motor deficits, incoordination, tone changes, gait problems, cognitive impairment, behavioral problems, or motor regression. He had a history of febrile seizures, which resolved by 2 years of age. He suffered a minor trauma to the scalp at 5 years of age, which led to prolonged bleeding. A hemogram at that time showed thrombocytopenia. Although he had a history of recurrent skin bleeding, there was no history of eczema, intermittent fever, or frequent infections. He was born to non-consanguineously married parents. There was no history of similar illness or recurrent infections in other family members. The perinatal period and developmental milestones were unremarkable. He had been vaccinated as per the national immunization schedule till 10 years of age. He received both live (oral polio, BCG, and measles vaccines) as well as the killed vaccines (diphtheria, pertussis, and tetanus vaccines) without any complications. Examination revealed normal anthropometry and vital parameters including blood pressure (110/70
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