Fahr syndrome, rare cause of neuropsychiatric manifestations in children: A two cases report

Fahr syndrome is a rare anatomo-clinical entity in pediatrics. Associating calcifications of the basal ganglia with phospho-calcium metabolism disorders, most often resulting in neuropsychiatric symptoms. In our study, the discovery of this syndrome in our two patients was fortuitous thanks to the typical radiological appearance, associated with the clinical picture they initially presented, hence the interest of brain imaging in the diagnosis of this syndrome.

Scrotal Lipoblastoma with Radiological and Histological Correlation

Lipoblastomas are rare benign mesenchymal tumors comprised primarily mature adipocytes, which are most commonly found in infants and children younger than 3 years. They are usually found in the extremities, trunk, head, neck, and retroperitoneum, although cases occurring in the scrotum have been reported. Due to its rarity, there is a relative paucity of literature describing its imaging and management. We present a rare case of a scrotal lipoblastoma, and discuss the current imaging strategies to differentiate this adipocytic tumor from other more common paratesticular masses, including aggressive neoplasms such as rhabdomyosarcomas. Knowledge of the radiological appearance of lipoblastoma can provide the correct diagnosis and prevent unnecessary orchiectomy.

Enostosis-related epilepsy

Unexpected bone lesions of the skull present a common dilemma, where radiological appearance and patient’s clinical background are crucial to avoid misdiagnosis. Enostosis are benign sclerotic bone lesions; its aetiology is still unknown and its management is usually conservative, with good prognosis. Most of these lesions are asymptomatic and neurological involvement is rare. We present the first report of enostosis-related epilepsy.

Medical and surgical devices in the emergency and trauma patient: what the radiologist should know, and how they can add value

A variety of different external and internal medical devices are used in the acute setting to maintain life support and manage severely injured and unstable trauma or emergency patients. These devices are inserted into the acutely ill patient with the specific purpose of improving outcome, but misplacement can cause additional morbidity and mortality. Consequently, meaningful interpretation of the position of devices can affect acute management. Some devices such as nasopharyngeal, nasogastric and endotracheal tubes and chest and surgical drains are well known to most clinicians, however, little formal training exists for radiologists in composing their report on the imaging of these devices. The novice radiologist often relies on tips and phrases handed down in an aural tradition or resorts to phrases such as: “position as shown”. Furthermore, radiologists with limited experience in trauma might not be familiar with the radiological appearance of other more specific devices. This review will focus on the most common medical devices used in acute trauma patients, indications, radiological appearance and their correct and suboptimal positioning.

A Pyramidal Cause of a Cerebellar Ataxia: HSP-7

A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.