Five-Years Trigger Finger Due to Partial Flexor Tendon Laceration in a Child

Trigger finger (TF) is a condition that affects quality of life and one of the most common causes of hand pain and disability. TF is characterized by catching, snapping or locking of the involved finger flexor tendon, associated with pain. TF in the children occurs rarely than in adults and partial tendon laceration is an uncommon cause of TF in the children. Thus, our aim in this study to define TF due to partial flexor tendon laceration in a child.

Electronic supplementary material

The online version of this article (doi:10.1007/s12593-015-0180-8) contains supplementary material, which is available to authorized users.     

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis: An important cause of hypoglycemia in children

Objectives:To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies.Methods:This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Results:Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. The mean duration from presentation to diagnosis was 39.4 months, as other diagnoses, like glycogen storage diseases and mitochondrial diseases needed to be ruled out. Development was normal apart from speech delay in one patient with a novel variant of the FBP1 gene. All patients have homozygous variants in the FBP1 gene.Conclusion:Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies.     

Atypical presentation of primary giant nasal septal mucopyocele

Mucoceles are expansile, encapsulated, benign cystic lesions with the potential for adjacent bony remodeling and resorption. Previous nasal surgery, recurrent infections, allergies, and facial traumas are all possible causes of mucoceles involving mainly paranasal sinuses. When the mucocele is infected, it is referred to as mucopyocele. Nasal septal mucoceles seen in only very seldom cases might develop from pneumatized and infected nasal septa. In the current article, we present an interesting primary giant septal mucopyocele that destroys all paranasal cells as a tumoral lesion. The perpendicular plate of ethmoidal bone, vomer, and bilateral anterior and posterior ethmoidal cells were destroyed by mucopyocele. The nasal cavity was totally obstructed by lesions on both sides. On the left side, the lesion also eroded the left lateral nasal wall causing external swelling at the medial canthal region. This is the first case of a giant septal mucopyocele of its kind in the literature. Although nasal septal mucocele is very rare, it should be considered in differential diagnosis of intranasal masses.     

TLR-4 polymorphisms and leukocyte TLR-4 expression in febrile UTI and renal scarring

Background

In this study, we aimed to determine the relation of TLR-4 Asp299Gly and Thr399Ile polymorphisms and monocyte/neutrophil TLR-4 expression to febrile urinary tract infection (UTI) and renal scar development in children.

Methods

The study was performed in children with a history of febrile UTI. Patients with and without renal scarring were classified as group 1 and group 2, respectively, while the control cases in our previous study were used as the control group (group 3). All three groups were compared for the rate of TLR-4 Asp299Gly and Thr399Ile polymorphisms, and for basal and lipopolysaccharide-stimulated monocyte/neutrophil TLR-4 expression levels.

Results

There were 168 patients (86 in group 1, 82 in group 2) and 120 control cases. Monocyte/neutrophil TLR-4 expression levels were similar in groups 1 and 2. However, both groups had lower TLR-4 expression than group 3. The rate of TLR-4 Asp299Gly polymorphism was not different in all groups. TLR-4 Thr399Ile polymorphism was higher in groups 1 and 2 than in group 3 (14.0, 12.2, and 2.0 %, respectively), while group 1 and group 2 were not different. Furthermore, monocyte TLR-4 expression level was lower in those having TLR-4 Thr399Ile polymorphism than in those without this polymorphism.

Conclusions

Patients with febrile UTI had more frequent TLR-4 Thr399Ile polymorphism and lower monocyte/neutrophil TLR-4 expression. These findings indicate that children carrying TLR-4 Thr399Ile polymorphism and/or having low level of monocyte/neutrophil TLR-4 expression have a tendency to develop febrile UTI. However, we could not show the association of TLR-4 polymorphisms and of TLR-4 expression level to renal scarring.