Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS) With Extrapontine and Pulmonary Involvement: Case Report of a Rare Presentation and Review of Literature.

CLIPPERS is a rare subacute inflammatory disorder of the CNS, with a poorly understood pathogenesis and with heterogeneous clinical manifestations. Reports of extra-pontine involvement in this syndrome are rare, and as far as we know there are only two cases reported with simultaneous involvement of the CNS and pulmonary parenchyma. We report the case of a young patient with a subacute condition of cognitive dysfunction, as well as motor, sensory and balance changes. Imaging showed pontine and extrapontine brain involvement in association with multiple pulmonary nodules, characterizing a very unusual presentation of this syndrome. It is important for radiologists to be aware of that rare presentation in order to make a prompt diagnosis of this condition, enabling early treatment and avoiding permanent neurological sequelae.

Sleep disturbances and brain MRI morphometry in Parkinson's disease, multiple system atrophy and progressive supranuclear palsy - a comparative study.

Despite common reports in Parkinson's disease (PD), in other parkinsonian syndromes, sleep disturbances have been less frequently described. This study evaluated and compared sleep disturbances in patients with PD, multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) and analyzed associations with brain magnetic resonance imaging (MRI) morphometry. This was a cross-sectional study of 16 PD cases, 13 MSA, 14 PSP and 12 control. Sleep disturbances were evaluated by Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index (PSQI), Restless Legs Scale and Berlin questionnaire. Pons area, midbrain area, medial cerebellar peduncle (MCP) width, and superior cerebellar peduncle width were measured using MRI. Poor quality sleep, risk of obstructive sleep apnea (OSA) and restless legs syndrome (RLS) were detected in all groups. Patients with MSA showed higher risk of OSA and less frequent RLS. In MSA, a correlation between PSQI scores and Hoehn and Yahr stage was observed (p<0.05). In PSP, RLS was frequent (57%) and related with reduced sleep duration and efficiency. In PD, excessive daytime sleepiness was related to atrophy of the MCP (p=0.01). RLS was more frequent in PD and PSP, and in PSP, was associated with reduced sleep efficiency and sleep duration. Brain morphometry abnormalities were found in connection with excessive daytime sleepiness and risk of OSA in PD and PSP suggesting widespread degeneration of brainstem sleep structures on the basis of sleep abnormalities in these patients.

Horizontal gaze palsy with progressive scoliosis: CT and MR findings.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature.

Sonographic evaluation of gallbladder contractility in patients with spinal cord injury.

PURPOSE: To determine gallbladder volume with sonography during fasting and in response to a fatty meal in patients with spinal cord injuries (SCIs) and compare the results with those obtained in healthy controls. METHOD: Forty-three patients with SCI and 40 healthy volunteers without clinical evidence of gallbladder disease underwent sonography before and 30 and 60 minutes after the ingestion of a standard fatty meal. The gallbladder fasting volume, resting volume, and gallbladder contractility were calculated, and the results were compared. Correlation between gallbladder contractility and level of lesion, time since injury, use of oxybutynin, and body mass index (BMI) was also assessed. RESULTS: The mean ejection fraction was significantly lower in the patients with SCIs (40%) compared with healthy controls (63%) (p < 0.001). Gallbladder mean residual volume 60 minutes after ingestion of the fatty meal was lower in the control group (p < 0.001). CONCLUSION: Gallbladder contractility is impaired in patients with SCI, which may predispose these patients to gallstone formation. There was no correlation between gallbladder contractility and level of the lesion, time since injury, use of oxybutynin, or BMI.

MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy ((1)H-MRS) reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and (1)H-MRS findings are discussed.

MRI and ¹H-MRS findings of three patients with Sjõgren-Larsson syndrome

A síndrome de Sjögren-Larsson (SJL) é distúrbio raro, autossômico recessivo, caracterizado pela tríade clássica de ictiose congênita, retardo mental e tetraplegia ou diplegia espástica. Trata-se de um erro inato do metabolismo dos lipídios, causado pela deficiência da enzima microssômica aldeído graxo desidrogenase. Os achados de imagem do encéfalo na SJL demonstram atrofia cerebral e alteração da substância branca. A espectroscopia de prótons, com poucos casos relatados, caracteriza-se pelo elevado pico de lipídios e redução de N-acetil-aspartato. Apresentamos três casos de SJL, com ênfase nos achados da ressonância magnética e da espectroscopia de prótons.