Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.

Subdural hemorrhages (SDHs) in children are most often observed in abusive head trauma (AHT), a distinct form of traumatic brain injury, but they may occur in other conditions as well, typically with clear signs and symptoms of an alternative diagnosis. We present a case of an infant whose SDH initially raised the question of AHT, but multidisciplinary evaluation identified multiple abnormalities, including rash, macrocephaly, growth failure, and elevated inflammatory markers, which were all atypical for trauma. These, along with significant cerebral atrophy, ventriculomegaly, and an absence of other injuries, raised concerns for a genetic disorder, prompting genetic consultation. Clinical trio exome sequencing identified a de novo likely pathogenic variant in NLRP3, which is associated with chronic infantile neurological, cutaneous, and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID). He was successfully treated with interleukin-1 blockade, highlighting the importance of prompt treatment in CINCA/NOMID patients. This case also illustrates how atraumatic cases of SDH can be readily distinguished from AHT with multidisciplinary collaboration and careful consideration of the clinical history and exam findings.

Multiple Abusive Fractures in an Infant With a Concurrent Parathyroid Hormone-Related Peptide-Secreting Renal Tumor: Abusive Fractures Accompanying a Parathyroid Hormone-Related Peptide-Secreting Tumor.

BACKGROUND: When evaluating an infant with unexplained fractures for child abuse, it is important to evaluate for possible causes of underlying bone fragility. CASE: A 7-month-old infant was found to have a parathyroid hormone (PTH)-related peptide-secreting mesoblastic nephroma. In spite of having an elevated serum calcium, depressed serum phosphate, and high levels of PTH-related peptide, he had no demineralization or other hyper parathyroid-related bone changes. Instead, he had multiple classic metaphyseal lesions, fractures of differing ages including a proximal clavicle fracture, and current and past bruising. No fractures typical of bone insufficiency were present. These findings are highly indicative of abuse in addition to his hormone-secreting tumor. CONCLUSIONS: In spite of this child's abuse findings, endogenous or tumor-related hyper PTH should be in the differential of underlying bone fragility. Children with disorders that could cause injury susceptibility can also be abused.

Non-cutaneous conditions clinicians might mistake for abuse.

OBJECTIVE: To determine the frequency of non-cutaneous mimics identified in a large, multicentre cohort of children evaluated for physical abuse. METHODS: Prospectively planned, secondary analysis of 2890 physical abuse consultations from the Examining Siblings To Recognize Abuse (ExSTRA) research network. Data for each enrolled subject were entered at the child abuse physician's diagnostic disposition. Physicians prospectively documented whether or not a 'mimic' was identified and the perceived likelihood of abuse. Mimics were divided into 3 categories: (1) strictly cutaneous mimics, (2) strictly non-cutaneous mimics and (3) cutaneous and non-cutaneous mimics. Perceived likelihood of abuse was described for each child on a 7-point scale (7=definite abuse). RESULTS: Among 2890 children who were evaluated for physical abuse, 137 (4.7%) had mimics identified; 81 mimics (59.1% of mimics and 2.8% of the whole cohort) included non-cutaneous components. Six subjects (7.4%) were assigned a high level of abuse concern and 17 (20.1%) an intermediate level despite the identification of a mimic. Among the identified mimics, 28% were classified as metabolic bone disease, 20% haematologic/vascular, 16% infectious, 10% skeletal dysplasia, 9% neurologic, 5% oncologic, 2% gastrointestinal and 10% other. Osteomalacia/osteoporosis was the most common non-cutaneous mimic followed by vitamin D deficiency. CONCLUSIONS: A wide variety of mimics exist affecting most disease categories. Paediatric care providers need to be familiar with these conditions to avoid pitfalls in the diagnosis of physical abuse. Identification of a mimic does not exclude concurrent abuse.

The utility of alkaline phosphatase measurement as a screening test for rickets in breast-fed infants and toddlers: a study from the puget sound pediatric research network.

To determine if alkaline phosphatase (AP) levels are a useful screening test for rickets, the authors measured serum AP levels in children 6 to 15 months old who were predominantly breast-fed for > 6 months without vitamin D supplementation. Radiographs were obtained on children with elevated AP levels to determine the presence of rickets. AP levels were obtained on 246 children; levels were elevated in 33 (13.4%). Rickets was present in 4 of 18 children with elevated levels on whom radiographs were obtained. The sensitivity and specificity of AP levels as a test for rickets was maximal at a cutoff value of 552 U/L. Using this cutoff value, the specificity of AP levels as a test for rickets was 97.4%, and the positive predictive value (PPV) was 40.0%. These results suggest that AP levels may be a useful screening test for rickets in children who are breast-fed for prolonged periods without vitamin D supplementation.

Oral surgical aspects of child abuse and neglect.

Oral trauma is a frequent manifestation of child abuse. Injuries to the oral hard and soft tissues are common in active children, but any oral injury in a young preambulatory infant should raise concern for abuse. Oral-facial trauma may be the primary presenting injury, or may accompany other severe inflicted injuries such as head injury, fractures, or abdominal trauma. Some congenital or acquired medical disorders may be mistaken for abuse or neglect. The oral surgeon is a critical participant in the collaborative management of child abuse cases.

Child abuse in infants with proximal physeal injuries of the femur.

OBJECTIVE: Child abuse has been recognized to be a common cause of femur fractures in infants. Fractures of the proximal femoral physis in abused infants have been less emphasized. Our report seeks to highlight this infrequent but clinically important inflicted injury. METHODS: Report of 2 cases and a literature review of fractures of the proximal femoral physis in infants, including the role of abuse in this injury. CONCLUSION: Proximal femoral physeal injuries occur infrequently in infants but often result from abuse. Diagnosis may be difficult due to lack of femoral head ossification before 4 months of age and clinical findings suggesting developmental dysplasia of the hip. Current imaging modalities can differentiate physeal injuries from developmental dysplasia of the hip. Early recognition and treatment can minimize sequelae.

Asthma, allergy, and sinopulmonary disease in pediatric condition falsification.

Reports of pediatric condition falsification (PCF) have noted, but not emphasized, exaggerated complaints of real and common illnesses. Among the most frequent chronic childhood illnesses are asthma, allergy, drug sensitivity, and ear and sinopulmonary infections. The most common pediatric surgery is the insertion of myringotomy tubes. A computer database of 104 PCF victims from 68 families spanning from 1974 to 1998 was searched for the frequency of these conditions. Outright falsification or extreme exaggeration of severity of asthma or allergies was noted in 52 children (50%), sinopulmonary infections in 50 (48%), and drug reactions or sensitivities in 30 (29%). Forty-five children (43%) had otolaryngologic surgery, including ear tubes. In all, 71 children (68%) had at least one of these conditions. Associated victim and perpetrator characteristics are described. Children with PCF are not only subjected to induced illnesses and excessive medical diagnostic and therapeutic efforts but also victimized b) the consequences of false and exaggerated complaints of common pediatric diseases.