Osteogenesis imperfecta or non-accidental injury?

Peddada KV, et al. Fracture Patterns Differ Between Osteogenesis Imperfecta and Routine Pediatric Fractures. J Pediatr Orthop. 2018 Apr;38(4):e207-e212.

“Our primary aim was to determine the radiographic differences between fractures in pediatric patients with OI and routine fractures in patients with normal bone quality. We found that oblique, transverse, diaphyseal, and bilateral long-bone fractures were more common in patients with OI, whereas buckle, metaphyseal, and physeal fractures were more common in patients with normal bone quality. These findings were consistent in patients with type-1 OI, except for transverse and buckle fracture rates, which did not differ significantly from those of patients without OI. Fractures associated with the greatest increase in OI likelihood were diaphyseal humerus, olecranon, and transverse fractures of the humerus, tibia, and fibula. Physeal and supracondylar humerus fractures were associated with the greatest decrease in OI likelihood.”

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Pereira EM. Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 2015 Dec;169(4):302-6.

Although non-accidental injuries (NAI) are more common in cases of unexplained fractures than rare disorders such as osteogenesis imperfecta (OI), ruling out OI and other medical causes of fracture is always indicated. The majority of OI patients can be diagnosed with the help of family history, physical examination, and radiographic findings. In particular, there are a few radiological findings which are seen more commonly in NAI than in OI which may help guide clinician considerations regarding the probability of either of these diagnoses. At the same time, molecular testing still merits careful consideration in cases with unexplained fractures without obvious additional signs of abuse.

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Use of steroids in treatment of Henoch–Schonlein purpura (HSP)

Hahn D, et al. Interventions for preventing and treating kidney disease in Henoch-Schönlein Purpura (HSP). Cochrane Database Syst Rev. 2015 Aug 7;(8):CD005128.

There are no substantial changes in conclusions from this update compared with the initial review. From generally low quality evidence, we found no evidence of benefit from RCTs for the use of prednisone or antiplatelet agents to prevent persistent kidney disease in children with HSP. Though heparin appeared effective, this potentially dangerous therapy is not justified to prevent serious kidney disease when fewer than 2% of children with HSP develop severe kidney disease. No evidence of benefit has been found for cyclophosphamide treatment in children or adults with HSP and severe kidney disease. Because of small patient numbers and events leading to imprecision in results, it remains unclear whether cyclosporin and mycophenolate mofetil have any roles in the treatment of children with HSP and severe kidney disease.

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Dudley J, et al. Randomised, double-blind, placebo-controlled trial to determine whether steroids reduce the incidence and severity of nephropathy in Henoch-Schonlein Purpura (HSP). Arch Dis Child. 2013 Oct;98(10):756-63.

“This is the largest trial of the role of steroids in children with HSP. We found no evidence to suggest that early treatment with prednisolone reduces the prevalence of proteinuria 12 months after disease onset in children with HSP.”

Comment in: Prevention of renal disease in Henoch-Schonlein purpura: clear evidence against steroids.

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Adolescent hypertension

Lalji R, Tullus K. What’s new in paediatric hypertension? Arch Dis Child. 2018 Jan;103(1):96-100.

“In Europe and the USA, the diagnosis of childhood hypertension is made when BP values on at least three separate occasions are confirmed as greater than the 95th percentile for the age, gender and height of the patient, or if in adolescents the BP exceeds 140/90 mm Hg even if <95th percentile.”

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Macumber I. Ambulatory Blood Pressure Monitoring in Children and Adolescents: a Review of Recent Literature and New Guidelines. Curr Hypertens Rep. 2017 Oct 25;19(12):96.

Recent data has shown that ABPM is more strongly associated with end-organ damage than casual BP, and that obesity and secondary causes of hypertension are strongly associated with nocturnal hypertension. There is evidence that ABPM is useful in management of a larger variety of diagnoses than previously thought. New guidelines from the American Academy of Pediatrics recognize the importance of ABPM in the management of pediatric hypertension. ABPM has an important and growing role in the diagnosis and management of hypertension in children and adolescents. Future efforts should include developing more generalizable normative data and investigating associations between pediatric ABPM results and adult outcomes.

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Exertional rhabdomyolysis

Knapik JJ, O’Connor FG. Exertional Rhabdomyolysis: Epidemiology, Diagnosis, Treatment, and Prevention. J Spec Oper Med. 2016 Fall; 16(3):65-71.

Exertional rhabdomyolysis (ER) is a medical condition whereby damage to skeletal muscle is induced by excessive physical activity in otherwise healthy individuals. The individual performs so much activity that he/ she presumably depletes local muscle energy stores and muscle cells are unable to maintain cellular integrity, resulting in cell damage and the release of cellular contents, with resultant secondary complications. In the military services, the incidence of ER appeared to increase in the period 2004 to 2015. Risk factors for ER include male sex, younger age, a prior heat injury, lower educational level, lower chronic physical activity, and activity in the warmer months of the year. Acute kidney injury is the most serious potential complication of ER and is thought to be due to a disproportionate amount of free myoglobin that causes renal vasoconstriction, nephrotoxic effects, and renal tubular obstructions. Patients typically present with a history of heavy and unaccustomed exercise with muscle pain, swelling, weakness, and decreased range of motion, largely localized to the muscle groups that were involved in the activity. Diagnostic criteria include the requisite clinical presentation with a serum creatine kinase level at least level 5 times higher than the upper limit of normal and/ or a urine dipstick positive for blood (due to the presence of myoglobin) but lacking red blood cells under microscopic urinalysis. Core treatment is largely supportive with aggressive fluid hydration. Although the great majority of individuals return to activity without consequence, patients should initially be stratified into high and low risk for recurrence, and those at high risk provided additional evaluation. Risk of ER in normal healthy individuals can be reduced by emphasizing graded, individual preconditioning before beginning a more strenuous exercise regimen after recommended work/rest and hydration schedules in hot weather, and discussing supplements and medications with knowledgeable medical personnel.

Children’s and Emory users, contact Emily Lawson for this article. 


Armed Forces Health Surveillance Bureau. Update: Exertional rhabdomyolysis, active component, U.S. Armed Forces, 2012-2016. MSMR. 2017 Mar;24(3):14-18.

Among active component service members in 2016, there were 525 incident diagnoses of rhabdomyolysis likely due to physical exertion and/or heat stress (“exertional rhabdomyolysis”). The crude incidence rate in 2016 was 40.7 cases per 100,000 person-years. Annual rates of incident diagnoses of exertional rhabdomyolysis increased 46.2% between 2013 and 2016, with the greatest percentage change occurring between 2014 and 2015. In 2016, relative to their respective counterparts, the highest incidence rates of exertional rhabdomyolysis affected service members who were male; younger than 20 years of age; and black, non-Hispanic. During the surveillance period, annual incidence rates were highest among service members of the Marine Corps, intermediate among those in the Army, and lowest among those in the Air Force and Navy. Most cases of exertional rhabdomyolysis were diagnosed at installations that support basic combat/recruit training or major ground combat units of the Army or the Marine Corps. Medical care providers should consider exertional rhabdomyolysis in the differential diagnosis when service members (particularly recruits) present with muscular pain or swelling, limited range of motion, or the excretion of dark urine (possibly due to myoglobinuria) after strenuous physical activity, particularly in hot, humid weather.

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Acetaminophen poisoning

Chiew AL, et al. Interventions for paracetamol (acetaminophen) overdose. Cochrane Database Syst Rev. 2018 Feb 23;2:CD003328.

AUTHORS’ CONCLUSIONS: These results highlight the paucity of randomised clinical trials comparing different interventions for paracetamol overdose and their routes of administration and the low or very low level quality of the evidence that is available. Evidence from a single trial found activated charcoal seemed the best choice to reduce absorption of paracetamol. Acetylcysteine should be given to people at risk of toxicity including people presenting with liver failure. Further randomised clinical trials with low risk of bias and adequate number of participants are required to determine which regimen results in the fewest adverse effects with the best efficacy. Current management of paracetamol poisoning worldwide involves the administration of intravenous or oralacetylcysteine which is based mainly on observational studies. Results from these observational studies indicate that treatment with acetylcysteine seems to result in a decrease in morbidity and mortality, However, further evidence from randomised clinical trials comparing different treatments are needed.

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Article of interest: Association of Long-Term Risk of Respiratory, Allergic, and Infectious Diseases With Removal of Adenoids and Tonsils in Childhood.

Byars SG, et al. Association of Long-Term Risk of Respiratory, Allergic, and Infectious Diseases With Removal of Adenoids and Tonsils in Childhood. JAMA Otolaryngol Head Neck Surg. 2018 Jun 7.

In this study of almost 1.2 million children, of whom 17,460 had adenoidectomy, 11,830 tonsillectomy, and 31 377 adenotonsillectomy, surgeries were associated with increased long-term risks of respiratory, infectious, and allergic diseases. Although rigorous controls for confounding were used where such data were available, it is possible these effects could not be fully accounted for. Our results suggest it is important to consider long-term risks when making decisions to perform tonsillectomy or adenoidectomy.

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Vestibular neuritis

Brodsky JR, et al. Vestibular neuritis in children and adolescents: Clinical features and recovery. Int J Pediatr Otorhinolaryngol. 2016 Apr;83:104-8.

“VN occurs in children at a similar rate to adults and should be considered in the differential diagnosis of pediatric patients with acute onset vertigo. The rate of spontaneous resolution was high among children who were <15 years old at the time of diagnosis, but adolescents ≥15 years old had a relatively high rate of persistent symptoms. Vestibular rehabilitation and corticosteroids may be helpful in facilitating recovery, particularly when given early on in the clinical course, but further study is needed to determine the efficacy of these treatments in this population.”

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Cyanosis

Hiremath G, Kamat D. Diagnostic considerations in infants and children with cyanosis. Pediatr Ann. 2015 Feb;44(2):76-80.

Cyanosis is defined by bluish discoloration of the skin and mucosa. It is a clinical manifestation of desaturation of arterial or capillary blood and may indicate serious hemodynamic abnormality. The goal of this article is to help the reader understand the etiology and pathophysiology of cyanosis and to formulate an approach to its differential diagnosis.

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Serological diagnosis of mumps (focus on IgM)

American Academy of Pediatrics. Mumps. In: Kimberlin DW, Brady MT, Jackson MA, Long SS, eds. Red Book: 2018 Report of the Committee on Infectious Diseases. American Academy of Pediatrics; 2018; 567-573.

“Mumps can be diagnosed by testing for mumps-specific immunoglobulin (Ig) M antibody or by a significant increase between acute and convalescent serum mumps IgG antibody titer determined by standard quantitative or semiquantitative serologic assay. In highly immunized populations, confirming the diagnosis of mumps by serologic testing can be challenging, because the IgM response may be absent or short lived; acute IgG titers already might be high, so no significant increase can be detected between acute and convalescent specimens. In immunized people or previously infected individuals presenting with clinically compatible mumps, a negative IgM result does not rule out acute mumps.”

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Neuromyelitis optica

Tenembaum S, et al. Neuromyelitis optica spectrum disorders in children and adolescents. Neurology. 2016 Aug 30;87(9 Suppl 2):S59-66.

Neuromyelitis optica (NMO) is a severe autoimmune disease of the CNS characterized by recurrent inflammatory events primarily involving the optic nerves and spinal cord. NMO is infrequent in children, but early recognition is important to start adequate treatment. In this article, we review the evolving diagnostic criteria of NMO and provide an update on the clinical and neuroimaging spectrum of the disorder in pediatric patients, including current knowledge on immunopathogenesis and treatment recommendations for children with NMO.

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