Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria

Background: Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). DSH patients display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities, and freckle-like macules on the face. Aims: To provide new evidence for further study of the etiopathogenisis of DSH. Methods: Genomic DNA was extracted and used as a template for the polymerase chain reaction (PCR) amplification of all 15 coding exons as well as intron-exon boundaries of ADAR1. The PCR products were sequenced directly. Results: We identified eight mutations of ADAR1 in four Chinese pedigrees and four individual patients, which were c.2722G>T, p.(Asp908Tyr), c.1657delA, p.(Ser553fs), c.2563_2564delCT, p.(Leu855fs), c.526T>G, p.(Leu176Val) as well as four previously reported mutations c. 3363_3364insT, p.(Lys1122fs), c. 2865_2866delGT, p.(Val955fs), c.1630C>T, p.(Arg544X), and c.2894C>T, p.(Pro965Leu). In silico analysis predicted that all the mutations reported were pathogenic. Limitations: We did not study how ADAR1 played its role in DSH. So, the exact pathogenic mechanism of ADAR1 in DSH patients wasn't clarified in this study. Conclusion: We found four novel ADAR1 mutations in this study. Our results enlarge the database on ADAR1 mutations associated with DSH.

Encephalitis and Motor Paresis Caused by Herpes Zoster: A case report / 대한통증학회지

Encephalitis is known as a rare complication of varicella zoster virus (VZV) reactivation. It is usually regarded as a complication of a cutaneous infection in patients with impaired cellular immunity. The reported incidence of herpetic motor involvement range between 0.5 and 31%, but is possibly more frequent as the weakness is readily obscured by pain. A 53-years-old woman, who presented with severe shoulder pain, fever, headache and seizure, which developed the day after skin eruptions, also developed motor paresis 7 days after the seizure. Her cerebrospinal fluid (CSF) was VZV-Polymerase chain reaction (PCR) negative, but VZV specific IgG antibody positive, and her brain MRI was found to be normal. With the early diagnosis and proper treatment, such as intravenous administration of acyclovir, stellate ganglion block and Yamamoto New Scalp Stimulation (YNSS), the patient completely recovered, without psychoneurological sequelae. Herein, we present this case, with a discussion of the relevant literature on the incidence, pathophysiology, diagnosis and management of central nervous system VZV involvement.

Herpes Zoster Meningitis Confirmed by Detection of Varicella-Zoster Virus DNA Using the Polymerase Chain Reaction: A case report / 대한통증학회지

Acute viral meningitis and myositis are rare complications of varicella-zoster virus (VZV) reactivation. A 71-years-old immunocompetent man, who presented with lower back pain radiating to the left lower extremities, developed vesicles on the L5 dermatomal area. The next day, he had complained of aberrant vesicles on the trunk, face and scalp, with generalized myalgia, headache and dizziness. He was confirmed with VZV meningitis and myositis, as demonstrated by the presence of VZV DNA in the blood and cerebral spinal fluid using a polymerase chain reaction (PCR) amplification. PCR has been used in patients with a VZV infection associated neurological symptoms, and provides a useful tool for the early diagnosis of VZV-associated neurological disease. The patient was treated with bed rest, with intravenous acyclovir for the VZV infection, and intravenous Patient-controlled Analgesia for pain management and the prevention of postherpetic neuralgia. When he visited the outpatient department 3 months later, the skin lesion, leg pain, headache and myalgia had all improved, without sequelae. Here, this case is reported, with a discussion of the relevant literature on its diagnosis and management.