Search

Contains fulltext : 168335.pdf (Publisher’s version ) (Closed access) In 2012 Alazami et al. described a novel syndromic cause of primordial dwarfism with distinct facial features and severe intellectual disability. A homozygous frameshift mutation in LARP7, a chaperone of the noncoding RNA 7SK, was discovered in patients from a single consanguineous Saudi family. To date, only one additional patient has recently been described. To further delineate the phenotype associated with LARP7 mutations, we report two additional cases originating from the Netherlands and Saudi Arabia. The patients presented with intellectual disability, distinct facial features and variable short stature. We describe their clinical features and compare them with the previously reported patients. Both cases were identified by diagnostic whole-exome sequencing, which detected two homozygous pathogenic LARP7 variants: c.1091_1094delCGGT in the Dutch case and c.1045_1051dupAAGGATA in the Saudi Arabian case. Both variants are leading to frameshifts with introduction of premature stop codons, suggesting that loss of function is likely the disease mechanism. This study is an independent confirmation of the syndrome due to LARP7 depletion. Our cases broaden the associated clinical features of the syndrome and contribute to the delineation of the phenotypic spectrum of LARP7 mutations.

Correction to: Journal of Human Genetics (2016) 61, 229-33 https://doi.org/10.1038/jhg.2015.134 ; published online 26 November 2015.

Fever is a common medical problem in children which often prompts parents to seek immediate medical care. The objective of this study was to survey parents about their knowledge and attitude concerning fever in their children.The study involved the random selection of Saudi parents who brought their febrile children to the emergency rooms or walk-in clinics of four hospitals in Riyadh. Parents of 560 febrile children were interviewed using a standard questionnaire to obtain sociodemographic information and current knowledge of fever. Approximately 70% of the respondents were female, and the ages of the most were in the range of 20-40 years. More than 80% of the parents had two or more children.More than 70% of parents demonstrated a poor understanding of the definition of fever, high fever, maximum temperature of untreated fever, and threshold temperature warranting antipyresis. About 25% of parents considered temperatures less than 38.0 o C to be fever, another 25% did not know the definition of fever, 64% felt that temperatures of less than 40.0 o C could be dangerous to a child, and 25% could not define high fever. Another 23% believed that if left untreated, temperatures could rise to 42.0 o C or higher, but 37% could not provide an answer, and 62% did not know the minimum temperature for administering antipyretics. Approximately 95% of parents demonstrated undue fear of consequent body damage from fever, including convulsion, brain damage or stroke, coma, serious vague illness, blindness, and even death.Parental misconceptions about fever reflect the lack of active health education in our community. Health professionals have apparently not done enough to educate parents on the condition of fever and its consequences, a common problem.

This case report profiles two children whose sole presentation is intractable seizures. The index case is a 1-year-old female. She presented to the emergency department with intractable seizures. Her initial metabolic evaluation was nonconclusive. Electroencephalogram was abnormal. Brain magnetic resonance imaging yielded a picture consistent with profound ischemic hypoxic injury. The second case was the 8-year-old brother of the index case. He suffered from intractable seizures since birth. On examination he was microcephalic with spastic quadriparesis and bilateral dislocation of lenses. Computed tomography of the brain revealed a low-density area in the white and cortical matter consistent with hypoxic-ischemic injury. His urinalysis for sulfocysteine produced findings consistent with isolated sulfite oxidase deficiency.