Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.

Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described. We report the first splice site variant in the PMPCB gene in a 39-year old individual who experienced developmental regression and ataxia following otitis media in childhood. A minigene assay confirms this variant results in aberrant splicing and skipping of exon 12.

Late onset depression: dopaminergic deficit and clinical features of prodromal Parkinson's disease: a cross-sectional study.

BACKGROUND: Late onset depression (LOD) may precede the diagnosis of Parkinson's disease (PD) or dementia with Lewy bodies (DLB). We aimed to determine the rate of clinical and imaging features associated with prodromal PD/DLB in patients with LOD. METHODS: In a cross-sectional design, 36 patients with first onset of a depressive disorder (Diagnostic and Statistical Manual of Mental Disorders IV criteria) diagnosed after the age of 55 (LOD group) and 30 healthy controls (HC) underwent a detailed clinical assessment. In addition, 28/36 patients with LOD and 20/30 HC underwent a head MRI and 29/36 and 25/30, respectively, had dopamine transporter imaging by 123I-ioflupane single-photon emission computed tomography (SPECT) imaging. Image analysis of both scans was performed by a rater blind to the participant group. Results of clinical assessments and imaging results were compared between the two groups. RESULTS: Patients with LOD (n=36) had significantly worse scores than HC (n=30) on the PD screening questionnaire (mean (SD) 1.8 (1.9) vs 0.8 (1.2); p=0.01), Movement Disorder Society Unified Parkinson's Disease Rating Scale total (mean (SD) 19.2 (12.7) vs 6.1 (5.7); p<0.001), REM-sleep behaviour disorder screening questionnaire (mean (SD) 4.3 (3.2) vs 2.1 (2.1); p=0.001), Lille Apathy Rating Scale (mean (SD) -23.3 (9.6) vs -27.0 (4.7); p=0.04) and the Scales for Outcomes in PD-Autonomic (mean (SD) 14.9 (8.7) vs 7.7 (4.9); p<0.001). Twenty-four per cent of patients with LOD versus 4% HC had an abnormal 123I-ioflupane SPECT scan (p=0.04). CONCLUSIONS: LOD is associated with increased rates of motor and non-motor features of PD/DLB and of abnormal 123I-ioflupane SPECTs. These results suggest that patients with LOD should be considered at increased risk of PD/DLB.

Differential diagnosis of posterior fossa tumours in children: new insights.

Central nervous system neoplasms are the most common solid tumours that develop in children, with the greatest proportion located in the infratentorium. The 2016 World Health Organization Central Nervous System tumour classification evolved from the 2007 edition with the integration of molecular and genetic profiling into the diagnosis, the addition of new entities and the removal of others. Radiology can assist with the subtyping of tumours from certain characteristics described below to provide prognostic information and guide further management. The latest insights into the radiologic characteristics of these posterior fossa tumours are presented below: medulloblastoma, ependymoma, pilocytic astrocytoma, embryonal tumours with multilayered rosettes, atypical teratoid rhabdoid tumours, diffuse midline glioma and the new entity of diffuse leptomeningeal glioneuronal tumours.

Magnetic resonance imaging findings in children with Parry-Romberg syndrome and en coup de sabre.

BACKGROUND: The aim of this study was to: (i) describe the abnormalities seen on brain imaging in a group of children with en coup de sabre (EDCS) with/without Parry-Romberg syndrome (PRS); and (ii) identify clinical predictors of brain imaging abnormalities. METHODS: This was a single centre (Great Ormond Street Hospital, London) retrospective case series of patients with ECDS/PRS seen from 2000 to 2018. We identified patients with cutaneous manifestations consistent with the clinical descriptions of ECDS/PRS. Presenting clinical, laboratory, and radiological brain findings are described. Results are expressed as medians and ranges or frequencies and percentages. Fisher's exact test was used to identify clinical associations with magnetic resonance imaging (MRI) abnormalities. RESULTS: Fourteen patients were studied: 6 males and 8 females; median age 14 years (range 3-20). We observed neuroimaging abnormalities in 2/6 ECDS and 5/8 ECDS/PRS patients. White matter signal abnormality, dystrophic calcification, leptomeningeal enhancement, and sulcal crowding were the typical findings on brain imaging. A total of 50% of patients had no MRI abnormality despite some of these patients having neurological symptoms. The presence of seizures was significantly associated with ipsilateral enhanced white matter signalling on MRI (p < 0.05). CONCLUSIONS: In summary, we observed several distinct radiographic patterns associated with ECDS/PRS. Seizure disorder was strongly associated with the presence of ipsilateral enhanced white matter signalling. Improved neuroimaging techniques that combine morphological with functional imaging may improve the detection rate of brain involvement in children with ECDS/PRS in the future.

The use of diffusion weighted imaging to evaluate pathology outside the brain parenchyma in neuroimaging studies.

Diffusion-weighted imaging (DWI) has transformed the radiological assessment of a variety of cerebral pathologies, in particular acute stroke. In neuroimaging studies, DWI can also be used to evaluate pathology outside the brain parenchyma, although it is sometimes underutilized for this purpose. In this pictorial review, the principles of DWI are outlined, and 13 cases of abnormal diffusion outside the brain parenchyma are illustrated in order to show DWI as a useful sequence for the evaluation of the following recommended review areas: the dural venous sinuses, internal carotid arteries, meninges, ventricles, cavernous sinus and orbits, skull base and lymph nodes.

The disappearing abdominal mass: a duodenal pseudotumour.

Reports of inflammatory pseudotumours can be found in the literature affecting different organs of the body. The authors present a case and discuss the differential diagnosis of an inflammatory duodenal mass. Both symptomatology and radiological findings suggested a more sinister cause, such as a malignancy. However, histological analysis revealed normal mucosa and after conservative management the mass spontaneously resolved.

Bleeding from peristomal varices: a complication of portal hypertension.

Peristomal varices are a recognised complication of stomas in the presence of portal hypertension. There has been a progression of treatment options described in the literature, including the transjugular intrahepatic portosystemic shunt (TIPS). The use of TIPS, a percutaneous procedure allowing connection between the portal and systemic circulations within the liver, is a well-recognised method of treating the complications of portal hypertension. This report presents a case of peristomal varices successfully treated with TIPS and subsequently reviews the literature relating to its management.

Spontaneous gastrosplenic fistula secondary to primary splenic lymphoma.

A gastrosplenic fistula is a rare complication of gastric and splenic lymphomas which can occur spontaneously or secondary to chemotherapy. We report a case of a spontaneous gastrosplenic fistula secondary to a diffuse splenic large B cell lymphoma in a previously well 43-year-old patient. CT imaging demonstrated the fistula, which was subsequently managed with chemotherapy. The clinical management of this rare condition is discussed with a review of the literature.