Distinct craniofacial‐skeletal‐dermatological dysplasia in a patient with W290C mutation in FGFR2

Mutations in the fibroblast growth factor receptor genes (FGFR) have been known to be associated with many craniosynostosis syndromes with overlapping phenotypes. We studied a 15‐year‐old Thai boy with an unspecified craniosynostosis syndrome characterized by multiple suture craniosynostoses, a persistent anterior fontanel, corneal scleralization, choanal stenosis, atresia of the auditory meatus, broad thumbs and great toes, severe scoliosis, acanthosis nigricans, hydrocephalus, and mental retardation. Radiography revealed bony ankyloses of vertebral bodies of T9–12, humero‐radio‐ulnar joints, intercarpal joints, distal interphalangeal joints of fifth fingers, fibulo‐tibial joints, intertarsal joints, and distal interphalangeal joints of the first toes. The patient was a heterozygous for a 870G → T change resulting in a W290C amino acid substitution in the extracellular domain of the fibroblast growth factor receptor 2 gene (FGFR2). This mutation has previously been reported in a patient with severe Pfeiffer syndrome type 2 that is distinct from the craniosynostosis in our patient. These findings emphasize locus, allelic, and phenotypic heterogeneity of craniofacial‐skeletal‐dermatological syndrome due to FGFR2 mutations. © 2002 Wiley‐Liss, Inc.     

Mid-cervical flame-shaped pseudo-occlusion: diagnostic performance of mid-cervical flame-shaped extracranial internal carotid artery sign on computed tomographic angiography in hyperacute ischemic stroke

Purpose

Flame-shaped pseudo-occlusion of the extracranial internal carotid artery (ICA) is a flow-related phenomenon that creates computed tomographic angiography (CTA) and digital subtraction angiography (DSA) findings that mimic tandem intracranial-extracranial ICA occlusion or dissection. We aim to determine the diagnostic performance of mid-cervical flame-shaped extracranial ICA sign on CTA in hyperacute ischemic stroke patients.

Methods

We retrospectively included consecutive anterior circulation ischemic stroke patients presenting within 6 h of symptom onset who underwent 4D brain CTA and arterial-phase neck CTA using a 320-detector CT scanner during August 2012 to July 2015. Two blinded readers independently reviewed arterial-phase neck CTA and characterized the extracranial ICA configurations into mid-cervical flame-shaped, proximal blunt/beak-shaped, and tubular-shaped groups. 4D whole brain CTA was used as a reference standard for intracranial ICA occlusion detection. Diagnostic performance of the mid-cervical flame-shaped extracranial ICA sign and interobserver reliability were calculated.

Results

Of the 81 cases, 11 had isolated intracranial ICA occlusion, and 6 had true extracranial ICA occlusion. Mid-cervical flame-shaped extracranial ICA sign was found in 45.5% (5/11) of isolated intracranial ICA occlusions but none in the true extracranial ICA occlusion group. The sensitivity, specificity, PPV, NPV, and accuracy of the mid-cervical flame-shaped extracranial ICA sign for the detection of isolated intracranial ICA occlusion were 45.5, 100, 100, 92.1, and 92.6%, respectively. Interobserver reliability was 0.90.

Conclusion

The mid-cervical flame-shaped extracranial ICA sign may suggest the presence of isolated intracranial ICA occlusion and allow reliable exclusion of tandem extracranial-intracranial ICA occlusion in hyperacute ischemic stroke setting.

     

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2

Mutations in the fibroblast growth factor receptor genes (FGFR) have been known to be associated with many craniosynostosis syndromes with overlapping phenotypes. We studied a 15-year-old Thai boy with an unspecified craniosynostosis syndrome characterized by multiple suture craniosynostoses, a persistent anterior fontanel, corneal scleralization, choanal stenosis, atresia of the auditory meatus, broad thumbs and great toes, severe scoliosis, acanthosis nigricans, hydrocephalus, and mental retardation. Radiography revealed bony ankyloses of vertebral bodies of T9-12, humero-radio-ulnar joints, intercarpal joints, distal interphalangeal joints of fifth fingers, fibulo-tibial joints, intertarsal joints, and distal interphalangeal joints of the first toes. The patient was a heterozygous for a 870G --> T change resulting in a W290C amino acid substitution in the extracellular domain of the fibroblast growth factor receptor 2 gene (FGFR2). This mutation has previously been reported in a patient with severe Pfeiffer syndrome type 2 that is distinct from the craniosynostosis in our patient. These findings emphasize locus, allelic, and phenotypic heterogeneity of craniofacial-skeletal-dermatological syndrome due to FGFR2 mutations.     

Isolated motor neglect following infarction of the posterior limb of the right internal capsule: a case study with diffusion tensor imaging-based tractography

Motor neglect is an impairment in the ability to initiate movement not attributable to muscle weakness. The neural network of this syndrome is not precisely defined. We present the diffusion tensor imaging (DTI)-base tractography findings in an acute stroke patient presenting with isolated motor neglect following infarction in the posterior limb of the internal capsule within the anterior choroidal artery territory. A left-handed 17-year-old woman presented with an acute onset of motor neglect of her left arm. Motor tasks performed with the affected limb were awkward; however, the tasks could be accomplished with effort. Magnetic resonance imaging (MRI) including DTI of the brain were performed. DTI-based tractography extracted the fiber tracts originating from regions of interest placed on the ischemic lesion. MRI revealed an acute ischemic infarction at the posterior part of the posterior limb of the right internal capsule within the territory of the anterior choroidal artery. DTI-based tractography showed fiber tracts projecting from the lesion to the posterior part of the supplementary motor area and some fiber tracts projecting to posterior aspects of the thalamus. DTI-based tractography may be a useful tool for visualizing white matter pathways in vivo following an acute infarction. Our case study supports the notion that fiber tracts connecting the posterior part of the posterior limb of the internal capsule, supplementary motor area, and posterior aspect of the thalamus are key areas of a neural network involved in motor neglect syndrome.