Crisponi/CISS1 syndrome: A case series.

Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused by biallelic mutations in CRLF1 or, much less commonly, CLCF1. Although genotype/phenotype correlation has been elusive, it has been suggested that the level of the mutant protein may correlate with the phenotypic severity. However, we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs∗2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328). Another fifth previously unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features.

Unusual presentation of COVID-19 in a child complicated by massive acute pulmonary embolism and lung infarction.

The Novel Coronavirus 2019 (SARSCoV- 2), which was first reported on in Wuhan, China, in late December 2019, causes a respiratory illness called COVID- 19 Disease. COVID-19 is most likely causing a hypercoagulable state, however the prevalence of acute venothromboembolism is still unknown. Limited data suggest pulmonary microvascular thrombosis may play a role in progressive respiratory failure. Here, we report a case of a child with an unusual presentation of COVID-19 presented initially by dry cough without fever and complicated by massive acute pulmonary embolism and lung infarction and treated successfully by hydroxychloroquine and azithromycin, in addition to anticoagulant therapy.

Diagnosis and management of community-acquired urinary tract infection in infants and children: Clinical guidelines endorsed by the Saudi Pediatric Infectious Diseases Society (SPIDS).

Urinary tract infection (UTI) is the most common bacterial disease in childhood worldwide and may have significant adverse consequences, particularly for young children. In this guideline, we provide the most up-to-date information for the diagnosis and management of community-acquired UTI in infants and children aged over 90 days up to 14 years. The current recommendations given by the American Academy of Pediatrics Practice guidelines, Canadian Pediatric Society guideline, and other international guidelines are considered as well as regional variations in susceptibility patterns and resources. This guideline covers the diagnosis, therapeutic options, and prophylaxis for the management of community-acquired UTI in children guided by our local antimicrobial resistance pattern of the most frequent urinary pathogens. Neonates, infants younger than three months, immunocompromised patients, children recurrent UTIs, or renal abnormalities should be managed individually because these patients may require more extensive investigation and more aggressive therapy and follow up, so it is considered out of the scope of these guidelines. Establishment of children-specific guidelines for the diagnosis and management of community-acquired UTI can reduce morbidity and mortality. We present a clinical statement from the Saudi Pediatric Infectious Diseases Society (SPIDS), which concerns the diagnosis and management of community-acquired UTI in children.