An 11-year-old girl was transferred to the Universidad de Chile Clinical Hospital after 2.5 months of persistent and unresponsive treatment for coughlike spasms. On arrival, the frequency of symptoms was 1 cough every 4 s, which disappeared during sleep. A multidisciplinary examination excluded allergic, viral, respiratory, epileptic, and other more usual causes of similar conditions. Two diagnoses (psychogenic cough and transient vocal tic disorder) and a mixed intervention were proposed leading to resolution in 12 days of treatment. No recurrence of symptoms was observed during several evaluations within 12 months of medical follow-up. An association between the 2 diagnoses is proposed and discussed.
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http://dx.doi.org/10.1080/21622965.2013.799036 | DOI Listing |
Gastro Hep Adv
September 2024
Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
An 11-year-old girl with quiescent ulcerative colitis had sustained elevation of liver enzymes. Although she had no clinical symptoms suggestive of Wilson's disease, such as Kayser-Fleischer rings, laboratory data showed decreased serum copper and ceruloplasmin levels and increased urinary copper excretion. Genetic testing showed pathogenic variants in allele 1: c.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Department of Nuclear Medicine, Peking University First Hospital, Beijing, China.
Pediatr Dev Pathol
December 2024
Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
An 11-year-old girl presented with a soft tissue lesion on the dorsal aspect of the left middle finger. Ultrasound imaging demonstrated a 2.8 cm × 0.
View Article and Find Full Text PDFBMJ Case Rep
December 2024
Department of Pediatrics, Lithuanian University of Health Sciences Hospital Kauno klinikos, Kaunas, Lithuania.
Acute pancreatitis in children is a rare condition; however, the incidence of this acute condition has been increasing over the past few decades. In most cases, acute pancreatitis does not cause severe complications in children, but in some cases, it can be complicated by fluid accumulation, fistulas and vascular pathologies, but the most common complication remains the formation of pseudocysts. This article describes the clinical case of a 11-year-old girl from Lithuania, which effectively illustrates a rare condition in children-acute pancreatitis and its developed complication-the formation of a pancreatic pseudocyst.
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