Skin and self-injury: a possible link between peripheral innervation and immune function?

The aim of this preliminary case study series was to investigate epidermal innervation in pediatric patients with significant neurological impairment and self-injurious behavior. We enrolled four pediatric patients with self-injury (two males, two females; mean age 12y, range 9-14y) and used archival specimens from healthy, age-matched children with typical development for comparison purposes. Epidermal nerve fiber density, peptide content, and mast cell degranulation patterns from non-damaged skin were tested between the patients and the comparison group. The male patients with self-injury had significantly increased epidermal nerve fiber densities, increased substance P positive fiber count and extensive mast cell degranulation compared with sex- and age-matched individuals with typical development. Our case series shows for the first time altered peripheral innervation from non-damaged tissue in children with significant self-injury and developmental disability compared with a healthy comparison group. Establishing the role of peripheral nociceptive and immune modulatory neural pathways may offer new treatment avenues for this devastating neurobehavioral disorder.

Ofatumumab for refractory opsoclonus-myoclonus syndrome following treatment of neuroblastoma.

Opsoclonus-myoclonus syndrome (OMS) may be associated with ANNA-1 (anti-Hu) autoantibodies. The standard treatment with IVIG, steroids, and anti-CD20 monoclonal antibody may fail, and optimal therapy is unknown. A patient developed OMS with high-titer ANNA-1 following recovery from neuroblastoma. She failed standard therapy and had only transient response to rituximab. Treatment with the humanized anti-CD20 monoclonal antibody ofatumumab combined with methotrexate resulted in transient neurologic improvement and decrease of ANNA-1. This suggests that ofatumumab combined with methotrexate should further be considered OMS patients, particularly in refractory disease.

Functional analysis and treatment of self-injurious behaviour in a young child with traumatic brain injury.

PRIMARY OBJECTIVE: There has been no research evaluating the utility of functional analysis (FA) in identifying effective interventions for severe problem behaviour in very young children with traumatic brain injury (TBI). It was hypothesized that FA technology would be applicable for this population and facilitate effective intervention development. RESEARCH DESIGN: A within-subject A-B-A reversal design was used to evaluate a functional communication training (FCT) intervention. This design allows for a demonstration of experimental control of the intervention over behaviour in single-case research. METHODS AND PROCEDURE: The authors conducted an FA of self-injurious behaviour (SIB) in an 18-month old boy with TBI. Results of the FA suggested that SIB was maintained, at least in part, by contingent maternal attention. An FCT intervention was used to teach a request for attention using an alternative communication device. MAIN OUTCOMES AND RESULTS: The FCT intervention reduced SIB to near zero and resulted in consistent use of an alternative communication device, functionally replacing SIB with desirable behaviour. The child's mother was coached to conduct all treatment sessions and reported satisfaction with the process. CONCLUSION: Analysis of behavioural function may play an important role in developing effective interventions for very young TBI patients with behaviour problems.

Cerebral MRI abnormalities associated with vigabatrin therapy.

PURPOSE: Investigate whether patients on vigabatrin demonstrated new-onset and reversible T(2)-weighted magnetic resonance imaging (MRI) abnormalities. METHODS: MRI of patients treated during vigabatrin therapy was reviewed, following detection of new basal ganglia, thalamus, and corpus callosum hyperintensities in an infant treated for infantile spasms. Patients were assessed for age at time of MRI, diagnosis, duration, and dose, MRI findings pre-, on, and postvigabatrin, concomitant medications, and clinical correlation. These findings were compared to MRI in patients with infantile spasms who did not receive vigabatrin. RESULTS: Twenty-three patients were identified as having MRI during the course of vigabatrin therapy. After excluding the index case, we detected new and reversible basal ganglia, thalamic, brainstem, or dentate nucleus abnormalities in 7 of 22 (32%) patients treated with vigabatrin. All findings were reversible following discontinuation of therapy. Diffusion-weighted imaging (DWI) was positive with apparent diffusion coefficient (ADC) maps demonstrating restricted diffusion. Affected versus unaffected patients, respectively, had a median age of 11 months versus 5 years, therapy duration 3 months versus 12 months, and dosage 170 mg/kg/day versus 87 mg/kg/day. All affected patients were treated for infantile spasms; none of 56 patients with infantile spasms who were not treated with vigabatrin showed the same abnormalities. DISCUSSION: MRI abnormalities attributable to vigabatrin, characterized by new-onset and reversible T(2)-weighted hyperintensities and restricted diffusion in thalami, globus pallidus, dentate nuclei, brainstem, or corpus callosum were identified in 8 of 23 patients. Young age and relatively high dose appear to be risk factors.

Clinical observation of self-injurious behavior correlated with changes in scalp morphology in a child with congenital hydrocephalus.

We report the case of a 12-year-old girl born with cerebral dysgenesis and congenital hydrocephalus first shunted shortly after birth. She had severe tissue-damaging self-injurious behavior, profound mental retardation, quadriparesis, as well as multiple cranial anomalies including turricephaly. After stage 1 cranial remodeling, a bone window was left pending second stage remodeling. Episodic changes in fluctuation of the scalp overlying the bone window were easily observed. During the course of a behavioral assessment for her self-injury, it was observed that the overall frequency of occurrence of self-injury increased significantly (P < .01) when the scalp was protruding and bulging compared with when the scalp was flush with the skull table. Periods of increased scalp protrusion were also associated with higher scores on a pain scale developed for children with communicative impairments associated with severe neurological impairment. After shunt replacement, there was remarkable improvement in functional status and decreased episodic self-injury.

Retinal hemorrhage asymmetry in inflicted head injury: a clue to pathogenesis?

OBJECTIVE: To determine whether regional cerebral parenchymal injury patterns correlate with the distribution of retinal hemorrhages after inflicted head injury. STUDY DESIGN: Retrospective case series of funduscopic photographs and serial computerized tomographic imaging of 14 children with confirmed inflicted head injury. MAIN OUTCOME MEASURES: Retinal Hemorrhage Score per eye and per subject, visual field examination, regional patterns of parenchymal injury on computerized tomographic scans and necropsy, and retinal/optic nerve sheath hemorrhage distribution at necropsy. RESULTS: Ten of 14 children had retinal hemorrhages (71%); 90% were asymmetric (mean retinal score, 4.89 vs 2.56; P=.006). Retinal hemorrhages were maximal on the side of greatest cerebral injury in seven of 10 children initially. Subsequent imaging asymmetry predicted retinal hemorrhage distribution in all eight survivors. Children's Coma Scores, apnea or cardiorespiratory arrest, initial hemoglobin, and plasma glucose concentration did not predict laterality. Asymmetry was greatest if dilated ophthalmoscopy was performed during the first 24 hours (P=.03). Visual outcome was poor; three had homonymous hemianopia and four had cortical visual loss, all correlating with parenchymal atrophy patterns. CONCLUSION: The distribution of retinal hemorrhages after inflicted head injury correlates with acute and evolving regional cerebral parenchymal injury patterns.

Unusual inflicted hot oil burns in a 7-year-old.

Pediatric burn injuries occur not infrequently as the result of abuse. While the majority of these burns are inflicted scald burns, those due to contact or contact/scald mechanisms may present diagnostic challenges. A child with unusual combined contact and scald burns caused by a metal spatula heated in hot cooking oil is described. The odd pattern of healed injury limited the initial diagnosis to inflicted healing burns. Despite the initial lack of disclosure, an inflicted etiology was supported by clearly delineated margins, macular lesions with hyper-pigmented rims and variegated central regions. Additional findings of numerous adult bites and bruises provided adjunctive support for an inflicted etiology. Aspects of this case are atypical for the usual demographics of a burn victim. This case extends the known presentations of inflicted contact/scald burns.