Systematic review of MRI findings in children with developmental delay or cognitive impairment.

AIM: To summarize the reported rates of magnetic resonance imaging (MRI) abnormalities in children with isolated global developmental delay (GDD) or intellectual disability (ID). METHOD: A literature search was conducted using electronic databases for studies reporting the rate of MRI abnormalities in children with clinically diagnosed ID or GDD and no other neurological signs, symptoms, or previously determined aetiology. All investigations with participants from birth to 18years were considered. Study quality was evaluated using the Joanna Briggs Institute Meta-Analysis of Statistics Assessment and Review Instrument (MAStARI) critical appraisal checklist items. RESULTS: Eighteen cross sectional, and 11 case-controlled studies adhered to inclusion criteria. Reported rates of abnormalities ranged from 0% to 98%. When all subjects with developmental delay from all papers were considered (n=2299) the total percentage found to have abnormalities was 38%. Abnormalities led to an etiological diagnosis for delay in 7.9% of cases. INTERPRETATION: Definitions of abnormalities varied widely between studies, and drastically different rates of abnormalities are reported. Currently available evidence is not of sufficient quality to make firm recommendations on the use of neuroimaging in ID or GDD but MRI should be considered for children that do not have a diagnosis after thorough clinical evaluation.

Familial Congenital Facial Synkinesis Due to 12q Duplication: A Case Report and Literature Review.

Inverse Marcus Gunn phenomenon is a rare form of congenital facial synkinesis in which jaw movement temporarily elicits ptosis, either unilateral or bilateral. This phenomenon is presumed to result from dysinnervation of facial muscles during development of the nervous system. We describe 2 brothers, both with inverse Marcus Gunn phenomenon in the context of multiple other congenital anomalies, all presumed secondary to a chromosomal abnormality involving 12q duplication and 1p36 deletion. Although a handful of familial cases of congenital facial synkinesis have been previously described, this is the first in which a genetic abnormality has been identified. Of the 4 genetic abnormalities previously described in association with congenital facial synkinesis (based on isolated case reports), 1 also involved duplication at the long arm of chromosome 12. We conclude that duplication of ≥1 of the roughly 44 protein-coding genes in the ∼6.3-Mb overlap region between the previously published case and our 2 patients is a likely genetic cause of congenital facial synkinesis.

Preadolescent indomethacin-responsive headaches without autonomic symptoms.

OBJECTIVE: A small case series is presented of preadolescent patients with indomethacin-responsive headache. BACKGROUND: Preadolescent indomethacin-responsive headache is a rare and poorly understood entity, with few published cases in the literature. RESULTS: Two young children had similar presentations of indomethacin-responsive headaches. Both patients experienced frequent paroxysmal episodes of sudden-onset severe frontal or temporal head pain. The events lasted seconds to minutes in duration, and varied in frequency ranging from multiple episodes per week to multiple events per day. There were no associated autonomic or migrainous symptoms, and a comprehensive work-up revealed no secondary causes for the debilitating headaches. Both patients had dramatic clinical improvement with indomethacin. CONCLUSIONS: There may be a pediatric syndrome of indomethacin-responsive headache without autonomic symptoms that does not fit well within current diagnostic classifications. More research is needed to determine appropriate dosage and duration of treatment in pediatric indomethacin-responsive headache. Once secondary causes have been ruled out, a trial of indomethacin should be considered in pediatric patients presenting with severe paroxysmal headaches, even if no autonomic symptoms are present.