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.

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.

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.

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 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.

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.

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.