Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis.

CASE PRESENTATION: A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21 hours and empiric anticonvulsive and antimicrobial treatment was started. At 25 hours, first vesicles appeared. While routine evaluations remained normal, a head CT revealed multifocal ischemic injuries, and a later MRI showed multifocal petechiae and diffusion abnormalities in the corticospinal tracts. The clinical diagnosis of incontinentia pigmenti (stage 1) was secured by histopathology. Follow-up at 13 months showed global developmental delay. DISCUSSION: We discuss the unusually early bilateral, fronto-occipital corticomedullar ischemias (CT day 3). On the MR imaging (day 7) extensive symmetric cerebral corticomedullar destruction and diffusion sequences with corticospinal tracts abnormalities are seen, which then evolve (day 26) to extensive symmetric cerebral destruction. We review the literature, genetics, suspected pathophysiology and possible neonatal manifestation. CONCLUSION: Incontinentia pigmenti is rare and, therefore, diagnosis is frequently delayed. Nevertheless, in the setting of therapy refractory seizures, excluded infections, and linear vesicular rash, a high index of suspicion is needed. This is the first report of simultaneous corticomedullar involvement as early as the third day of life.

Ocular overelevation in adduction in craniosynostosis: is it the result of excyclorotation of the extraocular muscles?

PURPOSE: We sought to determine whether radiological evidence supports excyclorotation of the extraocular muscle cone as a cause of overelevation in adduction in children with craniosynostosis. METHODS: This was a retrospective case series of 40 patients with craniosynostosis. Ophthalmic findings were assessed for incomitant vertical strabismus in particular excessive elevation in adduction. Computed tomography and magnetic resonance imaging scans were reviewed. Those scans with adequate coronal imaging of their orbits to assess the position and angulation of the horizontal extraocular muscles were identified, and the degree of rotation of the muscles formally measured along with aged matched controls. These groups were analyzed for the association between presence of overelevation in adduction and degree of excyclorotation of the extraocular muscle cone. RESULTS: The identified updrift on adduction that mimics inferior oblique muscle overaction was present in 63% (25/40) of patients. Imaging that permitted accurate measurement of the muscles positions was available in 10 of the 40 patients. Of these 10, 8 had the updrift, and 7 of these 8 (88%) demonstrated more excyclorotation than their aged matched controls. Comparison of scan measurements of patients revealed a significant difference in degree of excyclorotation (mean difference = 16.2, 95% confidence interval 6.2-31.5; P = 0.006) between patients with and without excess elevation in adduction. CONCLUSION: Overelevation in adduction is significantly associated with excyclorotation of the extraocular muscle cone in children with craniosynostosis. We demonstrate a simple method to assess for the excyclorotation. Our findings support the importance of imaging of the orbits in these children before strabismus surgery.