ABSTRACT
Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome. Contribution: Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.
ABSTRACT
PURPOSE: To describe the evolution of swallowing and feeding abilities of neonates with hypoxic-ischaemic encephalopathy (HIE) during hospitalisation. METHOD: A longitudinal cohort study was used. Twenty-nine participants (median age 39.0 weeks [IQR = 2.0 weeks]) with mild (n = 7), moderate (n = 19) and severe (n = 3) HIE were included. Clinical swallowing and feeding assessments were conducted at introduction of oral feeds and at discharge using the Neonatal Feeding Assessment Scale (NFAS). Videofluoroscopic swallow studies (VFSS) supplemented the NFAS before discharge. RESULT: Approximately two thirds of participants showed symptoms of oropharyngeal dysphagia (OPD) during initial NFAS and VFSS. Significantly fewer OPD symptoms occurred at discharge NFAS (p = 0.004). Endurance during non-nutritive sucking (p < 0.001) and nutritive sucking (p < 0.001) significantly improved. Nine participants (31.0%) demonstrated penetration or aspiration. Most aspiration events were silent (60%). Instrumental assessment identified pharyngeal phase dysphagia more effectively than bedside evaluation. High proportions of participants displayed OPD symptoms regardless of HIE severity. The correlation between OPD severity and the length of hospitalisation (p = 0.052) was not significant. CONCLUSION: All grades of HIE should be considered for early intervention by speech-language pathologists before discharge. Findings may be valuable to neonatal feeding teams.
ABSTRACT
A pediatric patient with neurological deficit was examined using magnetic resonance imaging (MRI]. The images revealed abnormal signal intensity and enhancement of the spinal cord, indicating myelopathy. Identifying the cause of the myelopathy required a differential diagnosis. Images from MRI included a pre-contrast T1 weighted sagittal sequence, which revealed expansion of the distal lumbar spinal cord and conus medullaris from T10-L1. The T2 weighted sagittal sequence revealed patchy areas of hyperintense signal. We did not notice any chronic hemorrhagic products or cysts. Within the field of view, we saw multifocal areas of bladder wall thickening. Sagittal and axial T1 weighted post gadolinium images demonstrated mixed linear and nodular patchy enhancement of the conus medullaris predominantly anteriorly and along the anterior surface of the meninges. On the 18 day of hospitalization, a spinal biopsy revealed the presence of granuloma with non-viable bilharzia ova, and schistosomiasis of the spinal cord was diagnosed. Although uncommon, when it does occur, schistosomiasis has significant implications. Using MRI, the medical team noticed abnormal features that called for a biopsy, and were thus able to differentiate between medullary schistosomiasis and other infective/inflammatory conditions. A prompt diagnosis is vital for initiating early treatment, and avoiding complications and invasive surgery.
