Forensic Sci Med Pathol DOI 10.1007/s12024-015-9674-8
DIFFERENTIAL DIAGNOSIS
Factor VII deficiency presenting as a possible child abuse Leslie Strickler1 • Jennifer Pierce2
Accepted: 11 March 2015 Ó Springer Science+Business Media New York 2015
Case 1 A previously healthy 3 month old male presented to care following focal seizure activity involving the right side of the face. No history of trauma was reported. Magnetic resonance imaging (MRI) of the brain revealed a large left sided subdural hematoma with extension to the interhemispheric fissure (Fig. 1). Screening laboratory studies included a complete blood count (CBC), revealing anemia (hemoglobin 7.8, hematocrit 23; normal ranges 9–14 and 28–42 respectively), and prolonged coagulation studies, including a prothrombin time (PT) of 41.9 (normal range 10.8–14.7) and a partial thromboplastin time (PTT) of 42 (normal range 23–37). Results were confirmed on immediate repeat sampling. Dilated fundoscopic examination and a skeletal survey were normal. Physical examination revealed no cutaneous injuries. A hypocoagulable panel was obtained which revealed Factor VII activity of 1.5 % (normal range 51–150 %). No Factor VII inhibitor was demonstrated. The remainder of the hypocoagulable panel, including Factor II, V, IX, X, and XIII activity and Von Willebrands screen was normal. Treatment with transfusion of packed red blood cells (PRBCs) and fresh frozen plasma (FFP) corrected the anemia, but did not reverse coagulopathy. Factor VII replacement (NovoSeven) was then administered which
& Leslie Strickler [email protected] 1
Department of Pediatrics, University of New Mexico Children’s Hospital, 2211 Lomas Blvd NE, Albuquerque, NM 87106, USA
2
Children’s Mercy Hospitals and Clinics, 2401 Gillham Rd, Kansas City, MO 64108, USA
resulted in a prompt improvement in coagulation (PT 11.3, PTT 31). Ultimately, a broviac catheter was surgically placed in the patient, enabling long term treatment with daily NovoSeven. The infant also began anti-epileptic therapy with Levetiracetam which continued for 2 months. He had no seizures following the second day of hospitalization. Following a marginally successful subdural tap, serial cerebral ultrasounds demonstrated resolution of the subdural hematoma over time, negating any need for surgical intervention. Since diagnosis, the child has had no known medical complications of hypocoagulation.
Case 2 An 8 year old female with a history of complex congenital heart disease presented to care following her referral to child protective services after the recognition of multiple bruises at school. The patient and her mother reported that minor trauma during normal play was the cause of some of the injuries, and reported no traumatic cause of the other bruises. The mother reported that the patient bruised easily due to taking ‘‘blood thinners.’’ The child was diagnosed shortly after birth with D-transposition of the great arteries, a remote inlet ventricular septal defect, pulmonary valve stenosis, and a hypoplastic mitral valve and left ventricle. She underwent palliative surgical procedures typical for single ventricle anatomy: central aortopulmonary shunt at 2 weeks of life, bidirectional cavopulmonary shunt with pulmonary artery band procedure at 4 months of life, Fontan palliation at 23 months of life, and multiple cardiac catheterizations. No complications of bleeding or clotting occurred after any procedure, and she thrived following palliation. Her
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Forensic Sci Med Pathol
Fig. 3 Bruising above the left ankle
Fig. 1 MRI of the brain without contrast demonstrating a large left hemispheric subdural hematoma with extension to the interhemispheric fissure
medications included 5 mg enalapril twice daily, 20 mg furosemide daily, and 81 mg aspirin daily. Medical evaluation revealed small areas of bruising to the tip of the nose, chest, lateral upper thigh, and upper calf. A large (2 9 2.5 in.) indurated blue bruise over the right upper arm, a large (2.5 9 2.5 in.) indurated irregularly shaped purple bruise above the left ankle, a second smaller (1 in.) bruise to the left ankle, and a bruise (1 in.) to the right ankle were also noted. Photographs of bruising to the nose, left ankle, and right arm are presented in Figs. 2, 3, and 4, respectively. Typical areas of childhood bruising such as the knees and shins were relatively spared. No radiographic studies were performed. Laboratory evaluation revealed a normal CBC and PTT, but a mildly prolonged PT of 16.2 (normal range 10.8–14.7). Platelet function tests showed prolongation of collagen/epinephrine (CEPI) closure time of [300 s (normal \179) and collagen/ADP (CADP) closure time of 142 s (normal \115). These laboratory findings were felt to be more abnormal than might be expected in the setting of daily low-dose
Fig. 4 Bruising to the right upper arm
aspirin therapy. Therefore, a pediatric hematology consultation was requested and a hypocoagulable panel was obtained. This evaluation occurred less than 1 month after child abuse evaluation and revealed a Factor VII activity of 43.6 %. The remainder of the hypocoagulable panel was normal. Interpretation of her clinical presentation and laboratory abnormalities by the pediatric hematology service was that Factor VII deficiency was felt to be contributory to her bruising. Given the patient’s mildly low Factor VII activity, and no history of clinically significant coagulopathy, no treatment has been initiated, and she has had no further known complications as a result of hypocoagulation.
Discussion
Fig. 2 Bruising to the left nare
123
Accurate diagnosis of child physical abuse is essential to prevent escalation of injury in harmed children, and to avoid unfounded protective intervention and criminal proceedings involving children who are not victims of abuse.
Forensic Sci Med Pathol
Numerous studies have illustrated the lack of adequate training and comfort of primary care providers in evaluating and diagnosing child maltreatment [1, 2]. Experienced child maltreatment clinicians play a crucial role in the recognition of the manifestations of child physical abuse and medical conditions that can present similarly to abuse. This is particularly important in complex presentations and critically ill children [3]. Significant bruises and intracranial bleeding are well known manifestations of physical abuse, but may also be the result of accidental trauma or have a medical cause. Best practice requires consideration of potential medical or accidental causes for such findings. This is achieved in the context of obtaining a thorough history of presentation, medical history, and physical examination. Appropriate utilization of these tools guides expanded screening for an underlying medical condition when necessary. The capability to do so is essential given the extensive number of rare bleeding disorders, and the ramifications of inaccurate diagnosis where the possibility of abuse exists. Currently there is no singular protocolled laboratory approach to evaluation for bleeding disorders in the context of child abuse evaluation. Despite a collective desire to deliver standardized assessment, many presenting factors require detailed assessment. These include the clinical presentation, family history, knowledge of the presentations of bleeding disorders, the medical probability that a bleeding disorder accounts for the child’s presentation, statistical
properties of potential laboratory studies, the history of exposure of the child to blood products, and the financial cost and invasiveness of testing [4]. Only after thorough medical assessment can a skilled provider guide appropriate medical evaluation in these complex cases. Involvement of a child abuse pediatrician, trained in the diagnosis of abusive injury as well as presentations of conditions with shared features of abusive injuries, assures that children receive comprehensive evaluation culminating in accurate diagnosis and treatment.
References 1. Lane WG, Dubowitz H. Primary care pediatricians’ experience, comfort and competence in the evaluation and management of child maltreatment: do we need child abuse experts? Child Abuse Negl. 2009;33:76–83. 2. Arnold DH, Spiro DM, Nichols MH, King WD. Availability and perceived competence of pediatricians to serve as child protection team medical consultants: a survey of practicing pediatricians. South Med J. 2005;98(4):423–8. 3. Block RW, Palusci VJ. Child abuse pediatrics: a new pediatric subspecialty. J Pediatr. 2006;148:711–2. 4. Carpenter SL, Abshire TC, Anderst JD, Section on Hematology/ Oncology and Committee on Child Abuse and Nelgect of the American Academy of Pediatrics. Evaluating for suspected child abuse: conditions that predispose to bleeding. Pediatrics. 2013;131(4):e1357–73.
123
DIFFERENTIAL DIAGNOSIS
Factor VII deficiency presenting as a possible child abuse Leslie Strickler1 • Jennifer Pierce2
Accepted: 11 March 2015 Ó Springer Science+Business Media New York 2015
Case 1 A previously healthy 3 month old male presented to care following focal seizure activity involving the right side of the face. No history of trauma was reported. Magnetic resonance imaging (MRI) of the brain revealed a large left sided subdural hematoma with extension to the interhemispheric fissure (Fig. 1). Screening laboratory studies included a complete blood count (CBC), revealing anemia (hemoglobin 7.8, hematocrit 23; normal ranges 9–14 and 28–42 respectively), and prolonged coagulation studies, including a prothrombin time (PT) of 41.9 (normal range 10.8–14.7) and a partial thromboplastin time (PTT) of 42 (normal range 23–37). Results were confirmed on immediate repeat sampling. Dilated fundoscopic examination and a skeletal survey were normal. Physical examination revealed no cutaneous injuries. A hypocoagulable panel was obtained which revealed Factor VII activity of 1.5 % (normal range 51–150 %). No Factor VII inhibitor was demonstrated. The remainder of the hypocoagulable panel, including Factor II, V, IX, X, and XIII activity and Von Willebrands screen was normal. Treatment with transfusion of packed red blood cells (PRBCs) and fresh frozen plasma (FFP) corrected the anemia, but did not reverse coagulopathy. Factor VII replacement (NovoSeven) was then administered which
& Leslie Strickler [email protected] 1
Department of Pediatrics, University of New Mexico Children’s Hospital, 2211 Lomas Blvd NE, Albuquerque, NM 87106, USA
2
Children’s Mercy Hospitals and Clinics, 2401 Gillham Rd, Kansas City, MO 64108, USA
resulted in a prompt improvement in coagulation (PT 11.3, PTT 31). Ultimately, a broviac catheter was surgically placed in the patient, enabling long term treatment with daily NovoSeven. The infant also began anti-epileptic therapy with Levetiracetam which continued for 2 months. He had no seizures following the second day of hospitalization. Following a marginally successful subdural tap, serial cerebral ultrasounds demonstrated resolution of the subdural hematoma over time, negating any need for surgical intervention. Since diagnosis, the child has had no known medical complications of hypocoagulation.
Case 2 An 8 year old female with a history of complex congenital heart disease presented to care following her referral to child protective services after the recognition of multiple bruises at school. The patient and her mother reported that minor trauma during normal play was the cause of some of the injuries, and reported no traumatic cause of the other bruises. The mother reported that the patient bruised easily due to taking ‘‘blood thinners.’’ The child was diagnosed shortly after birth with D-transposition of the great arteries, a remote inlet ventricular septal defect, pulmonary valve stenosis, and a hypoplastic mitral valve and left ventricle. She underwent palliative surgical procedures typical for single ventricle anatomy: central aortopulmonary shunt at 2 weeks of life, bidirectional cavopulmonary shunt with pulmonary artery band procedure at 4 months of life, Fontan palliation at 23 months of life, and multiple cardiac catheterizations. No complications of bleeding or clotting occurred after any procedure, and she thrived following palliation. Her
123
Forensic Sci Med Pathol
Fig. 3 Bruising above the left ankle
Fig. 1 MRI of the brain without contrast demonstrating a large left hemispheric subdural hematoma with extension to the interhemispheric fissure
medications included 5 mg enalapril twice daily, 20 mg furosemide daily, and 81 mg aspirin daily. Medical evaluation revealed small areas of bruising to the tip of the nose, chest, lateral upper thigh, and upper calf. A large (2 9 2.5 in.) indurated blue bruise over the right upper arm, a large (2.5 9 2.5 in.) indurated irregularly shaped purple bruise above the left ankle, a second smaller (1 in.) bruise to the left ankle, and a bruise (1 in.) to the right ankle were also noted. Photographs of bruising to the nose, left ankle, and right arm are presented in Figs. 2, 3, and 4, respectively. Typical areas of childhood bruising such as the knees and shins were relatively spared. No radiographic studies were performed. Laboratory evaluation revealed a normal CBC and PTT, but a mildly prolonged PT of 16.2 (normal range 10.8–14.7). Platelet function tests showed prolongation of collagen/epinephrine (CEPI) closure time of [300 s (normal \179) and collagen/ADP (CADP) closure time of 142 s (normal \115). These laboratory findings were felt to be more abnormal than might be expected in the setting of daily low-dose
Fig. 4 Bruising to the right upper arm
aspirin therapy. Therefore, a pediatric hematology consultation was requested and a hypocoagulable panel was obtained. This evaluation occurred less than 1 month after child abuse evaluation and revealed a Factor VII activity of 43.6 %. The remainder of the hypocoagulable panel was normal. Interpretation of her clinical presentation and laboratory abnormalities by the pediatric hematology service was that Factor VII deficiency was felt to be contributory to her bruising. Given the patient’s mildly low Factor VII activity, and no history of clinically significant coagulopathy, no treatment has been initiated, and she has had no further known complications as a result of hypocoagulation.
Discussion
Fig. 2 Bruising to the left nare
123
Accurate diagnosis of child physical abuse is essential to prevent escalation of injury in harmed children, and to avoid unfounded protective intervention and criminal proceedings involving children who are not victims of abuse.
Forensic Sci Med Pathol
Numerous studies have illustrated the lack of adequate training and comfort of primary care providers in evaluating and diagnosing child maltreatment [1, 2]. Experienced child maltreatment clinicians play a crucial role in the recognition of the manifestations of child physical abuse and medical conditions that can present similarly to abuse. This is particularly important in complex presentations and critically ill children [3]. Significant bruises and intracranial bleeding are well known manifestations of physical abuse, but may also be the result of accidental trauma or have a medical cause. Best practice requires consideration of potential medical or accidental causes for such findings. This is achieved in the context of obtaining a thorough history of presentation, medical history, and physical examination. Appropriate utilization of these tools guides expanded screening for an underlying medical condition when necessary. The capability to do so is essential given the extensive number of rare bleeding disorders, and the ramifications of inaccurate diagnosis where the possibility of abuse exists. Currently there is no singular protocolled laboratory approach to evaluation for bleeding disorders in the context of child abuse evaluation. Despite a collective desire to deliver standardized assessment, many presenting factors require detailed assessment. These include the clinical presentation, family history, knowledge of the presentations of bleeding disorders, the medical probability that a bleeding disorder accounts for the child’s presentation, statistical
properties of potential laboratory studies, the history of exposure of the child to blood products, and the financial cost and invasiveness of testing [4]. Only after thorough medical assessment can a skilled provider guide appropriate medical evaluation in these complex cases. Involvement of a child abuse pediatrician, trained in the diagnosis of abusive injury as well as presentations of conditions with shared features of abusive injuries, assures that children receive comprehensive evaluation culminating in accurate diagnosis and treatment.
References 1. Lane WG, Dubowitz H. Primary care pediatricians’ experience, comfort and competence in the evaluation and management of child maltreatment: do we need child abuse experts? Child Abuse Negl. 2009;33:76–83. 2. Arnold DH, Spiro DM, Nichols MH, King WD. Availability and perceived competence of pediatricians to serve as child protection team medical consultants: a survey of practicing pediatricians. South Med J. 2005;98(4):423–8. 3. Block RW, Palusci VJ. Child abuse pediatrics: a new pediatric subspecialty. J Pediatr. 2006;148:711–2. 4. Carpenter SL, Abshire TC, Anderst JD, Section on Hematology/ Oncology and Committee on Child Abuse and Nelgect of the American Academy of Pediatrics. Evaluating for suspected child abuse: conditions that predispose to bleeding. Pediatrics. 2013;131(4):e1357–73.
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