Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat

Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon. This autosomal dominant pathology mostly presents with seizures and focal neurological symptoms. Many persons affected by FCCM remain asymptomatic. However, acute hemorrhages may appear over time. MRI demonstrates multiple focal regions of susceptibility induced signal loss, well seen on gradient-echo sequences (GRE) or even better on susceptibility-weighted imaging (SWI). The presence of a single CCM – especially in young persons – without history of FCCM does not exclude this diagnosis. Some clinicians also advise an MRI of the spinal cord at the time of diagnosis to serve as a baseline and a control MRI of the brain every one to two years. MRI is certainly indicated in individuals with obvious new neurologic symptoms. Symptomatic siblings should also undergo an MRI of the brain to determine presence, size, and location of the lesions. Even in asymptomatic siblings, a screening MRI may be considered, as there may be an increased risk of hemorrhage, spontaneous or due to the use of certain medications; the knowledge of the presence and the type of these lesions are important. Surgical removal of a CCM may be justified to prevent a life-threatening hemorrhage. Control MRI may reveal the postoperative outcome

Craniofacial and intracranial Langerhans cell histiocytosis

Main Teaching Point: Multiple osteolytic calvarial lesions in a child raise suspicion of Langerhans cell histiocytosis

Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal cancer, pulmonary cysts and spontaneous pneumothorax. We report the diagnosis of a BHD syndrome achieved after incidental radiological finding of a renal tumour in a 24-year old man. The patient also displayed recurrent pneumothoraces and showed to have cysts in the basis of both lungs. The association of recurrent pneumothoraces and renal neoplastic disease should alert for the possible presence of this syndrome

Epineurial pseudocyst of the intratemporal facial nerve : a case series study

OBJECTIVES: The goal of this case series was to describe the clinical and radiological characteristics of epineurial pseudocysts of the intratemporal facial nerve (EPIFs) and to discuss the relevance in clinical practice. MATERIALS and METHODS: A retrospective case series of 10 consecutive patients with EPIFs identified through computed tomography (CT), between 2009 and 2018. Morphological characteristics, coexisting pathology, facial nerve function, and evolution over time were analyzed. RESULTS: A unilateral EPIF was found in 5 patients (50%) and a bilateral EPIF was found in the other 5 (50%). The largest dimensions were observedin the coronal plane, with an average craniocaudal length of 6.0 mm (range, 3-9 mm). None of the patients presented with facial nervedys function. Growth could not be observed in any of the patients. In 5 cases (33.3%), CT imaging showed a reduced transmastoid access to the facial recess caused by the EPIF. CONCLUSION: All EPIFs in this study were incidental findings. Facial nerve function was normal in all patients. Knowledge of EPIFs is important to perform safe cholesteatoma and cochlear implant surgery and to prevent unnecessary follow-up imaging

Pneumococcal Meningitis

Teaching Point: Spontaneous, atraumatic pneumocephalus is a rare presentation of pneumococcal meningitis

CBCT of osteogenesis imperfecta of the inner ear

A 42-year-old female known with osteogenesis imperfecta (OI) was referred to our department with complaints of deteriorating hearing loss. The medical history, besides some limb fractures, secondary to the OI, was negative. During clinical examination, a sensorineural hearing loss was confirmed bilaterally

Prominent Enlargement of the Facial Nerve Canal in a Case of a Persistent Stapedial Artery

In this case report, we present a 23-year-old patient with complaints of a recurrent plop sound in the left ear. Non-contrast CT and MR imaging revealed an enlargement of the tympanic segment of the facial canal due to venous congestion. A persistent stapedial artery (PSA) and absent foramen spinosum were identified as concomitant factors. This unique combination of anomalies has not been previously reported and knowledge about this condition is essential to avoid unnecessary surgery. Teaching Point: A persistent stapedial artery may be associated with enlargement of the tympanic facial nerve canal due to venous congestion

Behçet Disease

Teaching Point: Although Behçet disease is a multisystemic and chronic vasculitis, it can be superimposed with a variety of acute vasculitis