BackgroundInborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia. METHOD: We conducted a retrospective review of children diagnosed with IEMs presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 13-year period.ResultsOver the 13- year period of this retrospective cohort, the total number of live births reached 110,601. A total of 187 patients were diagnosed with IEMs, representing a incidence of 169 in 100,000 births (1:591). Of these, 121 patients (64.7 %) were identified to have small molecule diseases and 66 (35.3 %) to have large molecule diseases. Organic acidemias were the most common small molecule IEMs, while lysosomal storage disorders (LSD) were the most common large molecule diseases. Sphingolipidosis were the most common LSD.ConclusionOur study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high school carrier screening program, for the prevention of such disorders. In addition, we identified 43 novel mutations that were not described previously, which will help in the molecular diagnosis of these disorders.

Background:Child abuse is a major problem globally. Nonaccidental fractures are the second most common injury among physically abused children; however, there is a lack of studies describing the characteristics of nonaccidental fractures in Saudi Arabia.Objectives:The objective of this study was to determine the characteristics of nonaccidental fractures among abused children in Riyadh, Saudi Arabia, using radiography.Materials and Methods:This retrospective study analyzed the data and radiographs of all nonaccidental fracture cases in children (aged ≤14 years) registered in the National Family Safety Program Registry at King Abdulaziz Medical City, Riyadh, between 2009 and 2015.Results:A total of 1512 cases of child abuse were found in the National Family Safety Program Registry database from Riyadh city. From these, 103 fractures were identified; however, radiographs were available for only 70 fractures from 56 children. Of these, 33 (59%) were boys, and 25 (45%) were aged 1–5 years. In terms of the type of abuse, neglect was more common than physical abuse (52% vs. 45%). History of injury was identified in 75% (42) of the cases, of which fall accounted for about 55% (23). Nearly 79% of children presented with a single bone fracture, while 21% had multiple bone fractures. The most common sites of fractures were skull (40%), upper limbs (31%) and lower limbs (29%). The most common fracture pattern was transverse fractures (48%), and it was mainly diagnosed in skull fractures (51%).Conclusions:This study found that in Riyadh, Saudi Arabia, neglect is the most common cause of nonaccidental fractures, abusive head trauma is the most commonly associated injury and transverse fracture is the primary pattern of fracture in abused children. Notably, as most children experienced a single-bone fracture, the authors recommend clinicians to lower their threshold of considering abuse even in cases with an isolated fracture.

We present two young patients who developed Ewing's sarcoma in the proximal radius, managed surgically by resection and no reconstruction with K-wire fixation of the distal radioulnar joint for 6 weeks. Following surgery, both patients developed proximal radius migration with subluxation, which caused the patients to complain about deformation. Proximal radius migration with subluxation is well documented in trauma cases, although they were not described in orthopedic oncology since reconstruction was the classic management for such cases. Our results support the decision of reconstructing the proximal radius after resection in order for better functional outcome and stability.

Spontaneous knee dislocation without a history of trauma is a rare entity to witness. Herein, we report a case of a patient who presented to the emergency department (ED) with a history of fever, chills and vomiting associated with progressive right knee swelling, pain and impaired range of motion (ROM). Physical exam of her right knee showed symmetrical swelling with diffuse tenderness and limited ROM due to pain. Joint aspirate and full septic workup confirmed the diagnosis of septic arthritis. Following her management and two events of irrigation and debridement of the septic knee, the patient was discharged. However, after 1-week from discharge, she presented to ED with right leg swelling and tenderness despite being bedbound for 3 months and denying any history of trauma with radiographs showing a posterior knee dislocation. This report aimed to shed a light on this dreadful complication of septic arthritis and highlights the importance of early recognition and management.