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

THE CASE

A 5-month-old Hispanic male presented to the emergency department (ED) at a children’s hospital in the Northeast United States directly from his daycare after caretakers witnessed 2 shaking, seizure-like episodes. The episodes lasted 1 to 2 minutes in the setting of a fever as palpated by the parents.

History

The patient’s past medical history was significant for spontaneous vaginal delivery at 32 weeks attributed to maternal incompetent cervix. The patient had no history of chronic illness, disease, or prior surgery and there was no recent travel or animal exposure. There was no history of a fall or injury. The patient lived with both parents and his 3 siblings, and there were multiple sick contacts at home.

The patient had been in his usual state of health until 10 days prior to presentation when he developed rhinorrhea, nasal congestion, and intermittent increased work of breathing. In that time frame, he was seen by multiple local ED providers and treated symptomatically for presumed bronchiolitis with improvement. At each visit, he was discharged home to continue supportive care.

Recommended: Cutaneous clues of child abuse

According to the family, 1 day prior to admittance he intermittently started to feel warm to touch. At daycare, on the day of admission, the patient felt warm and had an episode of generalized shaking of his arms and legs with eye deviation, described as seizure-like, that lasted approximately 1 minute. The episode resolved without intervention. Emergency medical services were contacted and the child was brought directly to the local children’s hospital for further evaluation and treatment.

Evaluation and testing

On presentation to the ED, the patient was groggy and disoriented, but returned to baseline within 30 minutes after arrival. Both the family and daycare staff denied knowledge of any recent injury or trauma to the child.

While in the ED, the patient became febrile to 103.2°F and experienced a witnessed tonic-clonic seizure that resolved within 2 minutes. In light of the second seizure in less than 24 hours, laboratory studies were ordered and were significant for a cerebral spinal fluid study that was bloody in appearance with 130,000 RBC/µL; 3 WBC/µL; protein level of 161 mg/dL; and glucose of 67 mg/dL (serum glucose was 96 mg/dL). A complete blood count and comprehensive metabolic panel were normal, excepting a potassium level of 5.8 in a hemolyzed sample. An infectious workup, including urinalysis as well as influenza, respiratory syncytial virus (RSV), and herpes simplex virus (HSV) polymerase chain reaction (PCR) testing, were not suggestive of infection.

A computed tomography (CT) image of the head demonstrated an asymmetric linear lucency coursing obliquely across the right posterior parietal calvarium without overlying soft tissue swelling, concerning for nondisplaced right posterior parietal calvarial fracture (Figure 1). These findings raised the concern for nonaccidental trauma, given there was no history of reported fall or injury.

The patient was admitted to the hospital. As a result of the unexplained skull fracture in a child aged younger than 1 year, the Pediatric Trauma Team and the Child Protection Team were consulted to evaluate for further signs of trauma and concerns of possible abusive injury. A pediatric Neurology consult was requested for further management of the child’s atypical febrile seizure. Physical examination of the child suggested no signs of cranial deformities, step off, or overlying erythema or swelling. Additional laboratory studies were noncontributory in explaining either the seizure or fracture.

Differential diagnosis of skull fractures

The differential diagnosis for linear skull fractures in children includes trauma, whether accidental or nonaccidental; genetic and/or endocrinologic diseases; and accessory cranial sutures (Table).

Trauma

Skull fractures typically result from traumatic events, regardless of whether the mechanism of injury was accidental or nonaccidental. Fractures most commonly affect the parietal bone, followed by the occipital, frontal, and temporal bones. Linear fractures are most common, followed by depressed and basilar fractures.

In infants and toddlers, fractures may be the sentinel injury in a child abuse case. Each year, more than 650,000 children are substantiated as victims of maltreatment; therefore, it is important for the practitioner to be aware of the possibility of nonaccidental trauma when performing a history and physical exam.¹ Multiple fractures in various stages of healing, delay in obtaining medical care, and other injuries of the skin, organs, or other systems are injuries that suggest abusive trauma.

More: Trauma-informed care helps children in foster care

Linear skull fractures can be caused by a short fall from several feet onto a hard surface. The majority of linear skull fractures are not inflicted. However, complex or bilateral skull fractures are more suggestive of nonaccidental trauma.²

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.

Discussion

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 series^7,8 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. 

Patient outcome

After a multidisciplinary review of the case, additional volumetric reformats of the calvarium were created to provide a 3-D view of the patient’s skull (Figure 2). The reformats revealed that the appearance of the asymmetric linear lucency in the right parietal calvarium was more suggestive of an accessory suture than an acute fracture.

Findings were later explained to the family. The patient experienced no further seizure activity and was diagnosed with a complex febrile seizure episode. He remained afebrile with antipyretic use and free of symptoms. On day 2 of his hospitalization, the patient was discharged home in stable condition with directions for supportive care and routine follow-up with his primary care pediatrician.

Next: Look through the lens of trauma

Acknowledgments: The authors wish to thank Drs. Evan Gellar, Mary G. Mallon, Faaiza Kazmi, and the Department of Radiology at St. Christopher’s Hospital for Children, Philadelphia, Pennsylvania, for their assistance with this article.

References

1. Christian CW, Committee on Child Abuse and Neglect, American Academy of Pediatrics. The evaluation of suspected child physical abuse. Pediatrics. 2015;135(5):e1337-e1354.

2. Flaherty EG, Perez-Rossello JM, Levine MA, Hennrikus WL; American Academy of Pediatrics Committee on Child Abuse and Neglect; Section on Radiology, American Academy of Pediatrics; Section on Endocrinology, American Academy of Pediatrics; Section on Orthopaedics, American Academy of Pediatrics; Society for Pediatric Radiology. Evaluating children with fractures for child physical abuse. Pediatrics. 2014;133(2):e477-e489.

3. Ubhi T, Reece A, Craig A. Congenital skull fracture as a presentation of Menkes disease. Dev Med Child Neurol. 2000;42(5):347-348.

4. Shin JJ, Lee JP, Rah JH. Fracture in a young male patient leading to the diagnosis of Wilson's disease: a case report. J Bone Metab. 2015;22(1):33-37.

5. US National Library of Medicine. Genetics Home Reference. Osteopetrosis. Available at: https://ghr.nlm.nih.gov/condition/osteopetrosis. Published September 5, 2017. Accessed September 7, 2017.

6. Paterson CR. Fractures in rickets due to vitamin D deficiency. Curr Orthop Pract. 2015;26(3):261-264.

7. Parisi MT, Wiester RT, Done SL, Sugar NF, Feldman KW. Three-dimensional computed tomography skull reconstructions as an aid to child abuse evaluations. Pediatr Emerg Care. 2015;31(11):779-786.

8. Nakahara K, Miyasaka Y, Takagi H, Kan S, Fujii K. Unusual accessory cranial sutures in pediatric head trauma-case report. Neurol Med Chir (Tokyo). 2003;43(2):80-81.

9. Fleece DM, Kochan PS. Skull fracture in an infant not visible with computed tomography. J Pediatr. 2009;154(6):934.

10. Sanchez T, Stewart D, Walvick M, Swischuk L. Skull fracture vs accessory sutures: how can we tell the difference? Emerg Radiol. 2010;17(5):413-418.

Dr Hafeez is assistant professor of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth), Texas. Dr Garcia is a pediatric chief resident at St. Christopher’s Hospital for Children, Philadelphia, Pennsylvania. Dr McColgan is associate professor of Pediatrics at Rowan University School of Osteopathic Medicine, Stratford, New Jersey, and Drexel University College of Medicine, Philadelphia, Pennsylvania, fellowship director at the Child Abuse Research Education and Service (CARES) Institute/Cooper University Health Care, and former director of the Child Protection Program at St. Christopher’s Hospital for Children, Philadelphia. The authors have nothing to disclose in regard to affiliations with or financial interests in any organization that may have an interest in any part of this article.