Genetic causes of fractures and subdural hematomas: fact versus fiction.

Genetic disorders are in the differential diagnosis when young children present with unexplained fractures or intracranial hemorrhage. For medical and legal reasons, it is imperative to make the correct diagnosis and provide clear, evidence-based explanations of how alternative diagnoses were ruled out. A genetics consultation in cases of suspected child physical abuse should synthesize the history of present illness, medical history, family history, physical examination, and radiologic and laboratory findings in consultation with other specialists. The medical geneticist highlights how these disorders truly present. When the natural history of a genetic disorder is understood, it becomes clear that genetic disorders are not mysterious or difficult to diagnose. As highlighted in this case-based review, mainstream medical practice allows for differentiation among the intracranial and skeletal manifestations of osteogenesis imperfecta, Menkes disease, glutaric acidemia type 1 and child physical abuse. This review also highlights how a genetic disorder, Ehlers-Danlos syndrome, can be misused in a courtroom. Finally, this review summarizes when genetic testing is appropriate in cases of suspected child physical abuse.

Genetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach.

PURPOSE OF REVIEW: When infants and young children present with suspected physical abuse, it is critical to follow standard guidelines and rule out alternative causes of fracture and haemorrhage. A multidisciplinary team involved in the initial evaluation typically includes paediatrics, radiology, child protective services and/or law enforcement, and in complex cases, haematology, neurology, and genetics. A comprehensive genetics consultation includes review of the history of present illness, birth and past medical history, review of growth curves, family history, physical examination, radiological findings, and when indicated, biochemical and/ or genetic testing. RECENT FINDINGS: A number of reports have mischaracterized several genetic disorders as child abuse mimics. There is a difference between a differential diagnosis, which includes every condition that can cause a fracture and/or subdural haemorrhage, and a mimic, so called because it can be difficult to differentiate from child abuse. In this review, we discuss the differential diagnosis for infantile fractures and subdural bleeds, highlight cardinal signs and symptoms of genetic disorders, and demonstrate that these genetic disorders can be readily differentiated and diagnosed using a stepwise approach. Genetic disorders rarely, if ever, are truly mimics of child physical abuse. SUMMARY: In cases of suspected child physical abuse, multidisciplinary evaluations by paediatric specialists, keen clinical judgment, complete physical examinations, and judicious testing provides an evidence-based, time tested approach to excluding genetic disorders and diagnosing suspected child physical abuse.

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.

Current rhabdomyolysis treatment guidelines vary based on the etiology and diagnosis, yet many cases evade conclusive diagnosis. In these cases, treatment options remain largely limited to fluids and supportive therapy. We present two cases of acute rhabdomyolysis diagnosed in the emergency department: a 5-year-old boy with sudden onset bilateral flank pain, and a 13-year-old boy with 2-3 days of worsening pectoral and shoulder pain. Each patient had a prior similar episode requiring hospitalization in the past. The 5-year-old had no inciting trauma or trigger, medication use, or illness. The 13-year-old previously had an upper respiratory infection during the week prior and had been strenuously exercising at the time of onset. Genetic testing results were unknown for both patients during their hospitalizations, and insurance and other barriers led to delay. Later results for the first patient revealed a heterozygous deletion in intron 19 on the LPIN1 gene interpreted as a variant of unknown significance. During their hospitalizations, both children were started on intravenous (i.v.) fluids, and creatine kinase (CK) initially trended downward, but then began to rise or plateau. After reviewing the cases, prior literature, and anecdotal evidence of benefit from corticosteroid therapy in rhabdomyolysis with our consultant metabolic physicians, dexamethasone was initiated. In both patients, dexamethasone use correlated with relief of patient symptoms, significantly decreased CK value, and our ability to discharge these patients home quickly. Our cases, discussion, and literature review all lead to the consideration of the use of dexamethasone in conjunction with standard therapy for acute rhabdomyolysis.