Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Atypical clinical presentation with isolated frontotemporal dementia.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by heterozygous mutations in the NOTCH3 gene that manifests in adulthood and is characterized by recurrent transient ischemic attacks and strokes, migraine-like headaches, psychiatric disturbance, and progressive dementia. The current study reports an interesting case of CADASIL in a Saudi patient with a heterozygous mutation in exon 18 of the NOTCH3 gene presenting only with cognitive decline without migraine or stroke. The diagnosis was suspected mainly because of the typical brain magnetic resonance imaging (MRI) features that led to performing genetic testing to confirm the diagnosis. This illustrates the importance of brain MRI in the diagnosis of CADASIL. Increased awareness of neurologists and neuroradiologists about the typical MRI features of CADASIL is of paramount importance to reach the diagnosis in a timely manner. Awareness of the atypical presentations of CADASIL will lead to identifying more CADASIL cases.

Acute Disseminated Encephalomyelitis Post COVID-19 Pneumonia.

Acute disseminated encephalomyelitis (ADEM) is a monophasic condition characterized by inflammation of the central nervous system. Besides multiple sclerosis, optic neuropathy, acute transverse myelitis, and neuromyelitis optica spectrum disorder, ADEM is a primary inflammatory demyelinating disorder of the central nervous system. It is estimated that approximately three-quarters of cases of encephalomyelitis occur after an infection or immunization, where the onset of neurological disease is coincident with a febrile event. Here, we report an 80-year-old woman with coronavirus disease pneumonia who developed sudden onset of decreased level of consciousness, focal seizure, and right-side weakness. Magnetic resonance imaging (MRI) of the brain showed a multifocal hemorrhagic lesion with surrounding edema, suggesting ADEM. An electroencephalogram (EEG) revealed moderate generalized encephalopathy. The patient received alternating pulse steroids with plasma exchange for five days. Subsequently, her Glasgow coma scale score continued to decrease, and thus, she required inotropic support until she expired.

Cerebral Radiation-Induced Vasculopathy Mimicking Primary Central Nervous System Vasculitis.

Cranial irradiation is one of the main treatment modalities for tumors of the CNS. However, it can lead to significant damage to the treated region. Among the late complications of radiation therapy to the brain is vasculopathy of the small and/or large arteries. In this article, we report a case of CNS radiation-induced vasculopathy presenting 30 years after cranial irradiation and mimicking primary CNS vasculitis. The present case illustrates the importance of monitoring and carefully evaluating delayed side effects of radiotherapy as well as emphasizes the importance of obtaining a detailed history of any patient presenting with sudden unexplained symptoms. If a complete proper history of the patient's past medical diagnoses and procedures was taken, medical professionals would not have needed to conduct extensive investigations and implement treatment plans for a less likely diagnosis, in this case, aggressive treatment of a possible primary CNS vasculitis with high-dose steroids. Therefore, it is imperative to raise the possibility of radiation-induced vasculopathy after excluding all possible causes of deterioration in patients with a history of cranial radiation therapy.

Temporal Muscle Cavernous Hemangioma: A Case Report and Literature Review.

Hemangiomas are nonmalignant vascular lesions commonly seen in both the skin and mucosa that rarely occur in skeletal muscles. According to the type of vessel, a hemangioma can be differentiated into capillary, cavernous, or mixed types. The following report describes a case of temporalis muscle hemangioma in a 45-year-old female who presented with painful swelling in the left outer orbital wall, which had been growing in size over the past 12 months. CT scan and MRI revealed a well-demarcated lesion in the temporalis muscle measuring 10 mm × 13 mm × 15 mm. Surgical resection of the lesion was performed, allowing a definitive diagnosis of cavernous hemangioma to be made histologically. As radiological images are mainly inadequate for definitively diagnosing these lesions, surgical intervention is usually required. The recurrence rate differs among the three subtypes; thus, clinical follow-up and radiological imaging as needed are recommended.

Atypical Familial Amyotrophic Lateral Sclerosis Secondary to Superoxide Dismutase 1 Gene Mutation With Coexistent Axonal Polyneuropathy: A Challenging Diagnosis.

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that involves both the upper and lower motor neurons. Familial ALS, including superoxide dismutase 1 (SOD1) mutation, accounts for 5-10% of all cases of ALS. Typically, the symptoms of ALS are purely motor, though coexistent sensory symptoms have been reported in rare cases. In this report, we describe the case of a 47-year-old man who presented with progressive bilateral lower limb weakness and numbness for the last four years. A nerve conduction study (NCS) showed evidence of coexistent axonal sensorimotor polyneuropathy in addition to the typical findings of ALS in needle electromyography. Genetic testing confirmed the diagnosis of familial ALS secondary to the SOD1 genetic mutation. This report highlights that the presence of sensory symptoms should not exclude the possibility of ALS in an appropriate clinical setting.

Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome that causes systemic inflammation which can progress to multiorgan failure and death. Symptoms and signs commonly seen in HLH include high fever, hepatosplenomegaly, pancytopenia, and hypertriglyceridemia. This report describes the 8-month clinical course of a 17-year-old male with G6PD deficiency who presented with intermittent high fever of unknown origin for 8 months accompanied by pancytopenia and bilateral lower limb weakness. A pathogenic homozygous missense mutation (c.1081A > T p.(Arg361Trp)) in the PRF1 gene was detected by whole exome sequencing (WES). The brain and the whole spine MRI showed leptomeningeal enhancement at different levels involving both the brain and the spine. Therefore, a diagnosis of familial HLH type 2 with CNS involvement was confirmed. Accordingly, treatment with dexamethasone, cyclosporin, and etoposide in addition to intrathecal methotrexate and hydrocortisone was given. The patient showed a dramatic response with significant neurological improvement of the bilateral lower limb weakness. Genetic analysis has helped the patient's family with appropriate genetic counselling. This case highlights the importance of immediate treatment with immunosuppressants and the high clinical suspicion of physicians regarding HLH in areas where consanguinity is common.