Summary
Pachyonychia congenita (PC) is a rare autosomal dominant disorder characterized by nail dystrophy and palmoplantar keratoderma with severe plantar pain affecting quality of life. There is no effective treatment. Heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 and KRT17 have been reported as a cause of PC. Herein we present a female patient with an amino acid substitution mutation in KRT6A (c.1381G>A, p.Glu461Lys in exon 7) and classic features of PC associated with oral leucokeratosis and follicular hyperkeratosis. We also demonstrate successful treatment of the patient with rosuvastatin. A 3.6‐mm reduction in plantar callosity thickness was demonstrated by sonography. Our patient also experienced significant pain relief that allowed her to increase physical activity (Children's Dermatology Life Quality Index score dropped nine points following treatment). Collectively, these improvements suggest that rosuvastatin may offer a promising treatment for PC.
What's already known about this topic?
Pachyonychia congenita (PC) is an autosomal dominant disease characterized by nail dystrophy and painful plantar keratoderma.
Keratolytics, emollients, retinoids and steroids have been used for treatment but with limited benefits.
What does this study add?
A patient with PC who had a KRT6A mutation was treated with rosuvastatin with significant improvement in plantar hyperkeratosis and pain.
Statins could be a promising treatment for PC with long‐term safety, but further studies are needed.
Background: Kawasaki disease (KD) is the most important cause of ischemic heart disease in children. Its pathogenesis is not well understood, but geographic, ethnic and familial pattern of this syndrome is reported. Ischemic heart disease (IHD) in parents can be the result of KD in their children. This is a study on the prevalence of IHD in parents of children with severe and non-severe Kawasaki disease. Objectives: The current study aimed to estimate the prevalence of IHD in the families of children with KD. Patients and Methods: Sixty-one children with Kawasaki disease were admitted from December 21, 2004 to January 21, 2008to Mofid Children Hospital (from one month to thirteen-year old) and 50 patients entered the study. Subjects were divided into the severe (24subjects) and non-severe (26 subjects) groups. All of the parents were called for investigation. Data were analyzed by SPSS ver. 21 software.
Background & aim: Imbalance in serum electrolytes seems to play an important role in the development of febrile seizures. Therefore, the aim of the present study was to determine and evaluate the serum levels of glucose, sodium, calcium and magnesium in children hospitalized with fever and seizures in the hospitals of Shahid Beheshti University of Medical Sciences.
Methods:The study population of the present retrospective study conducted in 2020 included all children aged 6 months to 5 years hospitalized in hospitals of Shahid Beheshti University of Medical Sciences from the beginning of 2008 to the end of 2018 due to fever and seizures. The medical records of all patients who met the inclusion criteria during the study period were reviewed. Demographic and clinical data of patients along with serum levels of sodium, potassium, calcium, magnesium and blood glucose were extracted and evaluated. The collected data were analyzed using t-test, Chi-square and regression modeling.
Results:In the present study, 300 children were included based on research criteria. 264 patients (88%) had simple seizures and 36 patients(12%) had complex seizures. The mean serum levels of sodium, calcium, potassium, glucose and magnesium in the studied patients were in the normal range. On the other hand, there was no statistically significant difference between serum levels of these variables in the two groups of simple and complex seizures. Based on the results of regression calculations, the previous history of fever and seizures in patients had the power to predict the occurrence of complex seizures (10-06 /11: 95% CI, p= 0.001, OR= 4.5).
Conclusion:Serum levels of sodium, calcium, potassium, glucose and magnesium had no effect on the incidence of seizures in the studied patients. On the other hand, due to the high risk of complex seizures in patients with a history of fever and previous seizures, it is possible to help better manage and control the disease by taking the necessary measures.
Background and Aims: Cerebral sinus venous thrombosis (CSVT) is a rare stroke subtype in children, with limited data on its clinical presentation, etiology, and outcomes. This case report aims to describe a case of CSVT in a child, including their clinical presentation, imaging findings, and management, to increase awareness of this rare but serious condition. Case presentation: A 13-month-old boy presented with swelling and deviation of the left eye after being hospitalized for left periorbital cellulitis. The patient was diagnosed with thrombosis of the left transverse and superior sagittal sinuses and underwent treatment with levetiracetam, folinic acid, rosuvastatin and enoxaparin followed by warfarin. Genetic testing was also performed to identify the underlying genetic basis of thrombophilia. Results: Laboratory tests showed that there was one heterozygous mutation in the β-Fibrinogen gene and three homozygous mutations in MTHFR A1298C, PAI-I-675 4G/5G, and PAI-I-844 G/A genes. Additionally, Lipoprotein (a) was measured at 89.3 nmol/L and the patient's mother had two homozygous mutations in PAI-I-675 4G/5G and PAI-I-844 G/A genes. Conclusions: It appears that the mutation in MTHFR gene is more prevalent in our region, which may be a contributing factor to the increased incidence of stroke in children and adolescents in the country. Further research is needed to determine the prevalence of this mutation and its impact on thrombophilia in the population. This case highlights the importance of prompt diagnosis and treatment of CSVT in children, as well as the need for genetic counselling and testing to identify underlying risk factors.
Background:
Encephalitis is an uncommon, serious brain infection that can cause fatality among children. The cause of most encephalitis remained unknown, yet viruses are the most well-known infectious agents that cause encephalitis. This study aimed to determine varicella–zoster virus (VZV) and herpes simplex virus type 1, 2 (HSV1/2) among individuals who are under 5 years of age in Iran.
Materials and Methods:
In this study, 149 cerebrospinal fluid samples of suspected patients of encephalitis were analyzed with some symptoms, such as seizure, fever, nausea loss of consciousness, and dizziness from Mofid Children's Hospital in Tehran, Iran. Then, the molecular evaluation of samples was performed using multiplex Polymerase Chain Reaction (PCR) for detecting HSV1/2 and VZV.
Results:
The mean age of the patients was 1.8 years. Also, 63.4% of children were male and 36.6% were female. Out of 149 tested samples, 11 (7.3%) showed the viral DNA for one of the herpes viruses (7.3%). Nine samples were HSV1 positive (6.0%) and two samples were VZV positive (1.3%). Fever and vomiting were the most frequent symptoms. The mean ± standard deviation (SD) WBC and counts in cerebrospinal fluid (CSF)-positive samples, and all included samples were 298.8 ± 552.7 cells/μL and 131.1 ± 474.6 cells/μL, respectively.
Conclusions:
Although viral encephalitis is considered a threat to children's health, with accurate diagnosis and appropriate antiviral drugs, death and neurological complications in children can be prevented.
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