Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.

Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.

Spontaneous Rupture of the Gravid Uterus in a Postmenopausal Woman Receiving Fertility Treatment.

Uterine rupture is an uncommon obstetric emergency that is potentially fatal to the mother and fetus. Spontaneous rupture of the unscarred gravid uterus in postmenopausal women who achieve pregnancy through in vitro fertilization (IVF) has been infrequently described in the literature. We present the case of a 72-year-old postmenopausal woman, gravida 1 para 0, who conceived by donor oocyte IVF in Europe and subsequently suffered uterine rupture at 22 weeks gestation with large hemoperitoneum. The patient underwent emergent laparotomy, with successful repair of the uterine wall defects. Postmenopausal women face an increased risk of spontaneous uterine rupture and life-threatening bleeding, which is likely due to uterine atrophy and limited uterine capacity. Further research is needed to establish age-appropriate guidelines for selecting treatment candidates.

Imaging appearance of entrapped periosteum within a distal femoral Salter-Harris II fracture.

Salter Harris II fractures of the distal femur are associated with a high incidence of complications, especially premature physeal closure. Many risk factors for this high rate of premature physeal closure have been proposed. More recently, entrapment of periosteum within the physis has been suggested as an additional predisposing factor for premature physeal closure. The radiographic diagnosis of entrapped soft tissues, including periosteum, can be suggested in the setting of a Salter-Harris II fracture when the fracture does not reduce and physeal widening >3 mm remains. We report a patient who sustained a distal femoral Salter-Harris II fracture following a valgus injury. The patient had persistent distal medial physeal widening >5 mm following attempted reduction. A subsequent MRI revealed a torn periosteum entrapped within the distal femoral physis. Following removal of the periosteum, the patient developed a leg length discrepancy which required physiodesis of the contralateral distal femur. We present this case to raise awareness of the importance of having a high index of suspicion of periosteal entrapment in the setting of Salter-Harris II fractures since most consider entrapped periosteum an indication for surgery.

Nuclear scintigraphy findings for Askin tumor with In111-pentetreotide, Tc99m-MIBI and F18-FDG.

Askin tumor is a rare disease which had previously been reported as being thallium-201 and gallium-67 avid. Varying data regarding 18F- fluorodeoxyglucose metabolism has been described with Ewing family of soft tissue tumors. In this case, we present a patient found to have an Askin tumor of the left chest wall which demonstrated indium-111 pentetreotide and technetium-99m MIBI avidity. The lesion did not show 18F- fluorodeoxyglucose hypermetabolism in this case despite the aggressiveness of the tumor. The patient was treated with surgical excision of the tumor and chemotherapy. Subsequently, contrast enhanced CT, indium-111 pentetreotide and technetium 99m-MIBI showed that the lesion had regressed. These findings suggest that Askin tumor can demonstrate Indium-111 pentetreotide and technetium 99m-MIBI uptake and need not be hypermetabolic on 18F-fluorodeoxyglucose exam.