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    Infant’s seizures and skull fracture could point to child abuse


    Genetic and endocrinologic diseases

    Rare genetic diseases may also be indicated by radiologically found skull fractures. A patient found to have Menkes disease presented with a congenital skull fracture found at 3 months of age after presenting with seizures.3 Menkes disease is a genetic disorder that affects the copper levels in the body. Patients have a characteristic physical presentation including sparse, kinky hair; failure to thrive; hypotonia; neurological deterioration; seizures; and developmental delay.

    Wilson disease is another rare inherited disorder in which excessive copper levels accumulate in the body, particularly the liver and brain. However, skeletal involvement has also been described and, combined with secondary balance impairment, can lead to increased falls and a higher risk of fracture.4

    Osteogenesis imperfecta, a group of genetic disorders that mainly affect the bones, may lead to skull and other fractures from mild trauma or even without an apparent cause. Additionally, osteopetrosis, another heritable disease that is marked by abnormally dense and fracture-prone bones, may also cause fractures from minor trauma.5 Osteopetrosis is marked by multiple bone fractures, scoliosis, vision loss, hearing loss, anemia, and bleeding, and may manifest with immunodeficiency and seizures.

    Rickets, secondary to vitamin D deficiency, is known to be associated with spontaneous fractures and skull fractures in patients aged younger than 2 years.6 Rickets can be caused by a dietary deficiency of vitamin D or calcium, but may also have a genetic etiology. Rickets affects bone development in children.

    Accessory cranial sutures

    Accessory cranial sutures are normal variations in sutures that may simulate fractures, mimicking linear fracture lines. Complex developmental patterns in suture formation increase the variability in potential accessory suture findings. This can lead to the potential for misdiagnosis on radiography and CT imaging which, in turn, can lead to unnecessary evaluations and family stress.


    Skull fractures in infants with an unclear etiology present unique difficulties to practitioners. They must correctly identify and intervene in potential child abuse cases, as missing or delaying the diagnosis of child abuse may lead to continued morbidity and even mortality. Conversely, incorrectly identifying an unrelated medical condition or congenital variant as abuse can also have serious negative consequences for the nonabused patient and his or her family.

    Related: Why parents spank their children

    Previous case reports and series7,8 have shown that radiographs and 2-D CT9 often cannot reliably distinguish skull fractures from accessory sutures. Although the correct diagnosis may be reached eventually, the initial confusion may lead to additional stress for the family and the healthcare system as an extensive workup is initiated. This workup may include additional medical tests, consults, and even a referral to Child Protective Services. Additionally, 3-D reconstruction may elucidate skull fractures that were not recognized on radiographs or CT bone windows.7

    On the other hand, CT reconstruction also has limitations. In one documented case, CT reconstruction did not lead to the correct conclusion in differentiating skull fracture from an accessory suture. A 2-year-old boy had frontal soft tissue swelling after a fall with a lucency in the left occipital bone that, upon 3-D reconstruction, was diagnosed as an accessory suture. However, a follow-up study after 3 months showed sclerosis of the lucency indicating the presence of a previous fracture.10

    Despite its limitations, 3-D reconstruction should be considered for head CTs in which a skull fracture is suspected. This may prevent unnecessary medical workup and social investigation, which can have a considerable financial and emotional expense.

    Cases in the literature that indicate radiographs and 2-D CT scans may not reliably distinguishing accessory sutures from fractures support this notion. These 3-D reformats may be especially helpful in the occipital region where the presence of 6 embryologic ossification centers give rise to the region’s potentially complex accessory suture patterns.8 Accessory sutures typically demonstrate a zigzag pattern with sclerotic borders and without diastasis; merge with adjacent sutures; lack soft tissue swelling; and often appear bilateral and symmetric.9

    Three-D reconstructions are created from data already obtained for the standard 2-D images; therefore, they do not add additional scanning time or radiation exposure to the child. The only cost to produce the 3-D images is the few minutes of time the CT technologist or radiologist must spend to reformat the images.

    Although underutilized, 3-D reconstruction of head CTs in specific situations may prove to be an invaluable resource for radiologists and child abuse pediatricians in helping to distinguish fracture from accessory suture. The technique should be readily called upon in these cases. The authors recommend that in children aged younger than 2 years who present with concern for head trauma and possible abuse, 3-D reconstructions of the head CT be routinely performed to increase recognition of skull fractures and to help differentiate fracture from accessory suture, a congenital variant.

    NEXT: Patient outcome

    Zoabe Hafeez, MD
    Dr Hafeez is assistant professor of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston ...
    Mykael Garcia, MD
    Dr Garcia is a pediatric chief resident at St. Christopher’s Hospital for Children, Philadelphia, Pennsylvania.
    Maria D McColgan, MD, MSEd, FAAP
    Dr McColgan is associate professor of Pediatrics at Rowan University School of Osteopathic Medicine, Stratford, New Jersey, and Drexel ...


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