Progressive multifocal leukoencephalopathy (PML) is rare and can be challenging to diagnose. Symptoms can be varied and can mimic stroke phenotypes. Physicians must hold a high index of suspicion in patients with significant PML risk factors (including HIV/AIDS, immunosuppression, lymphoproliferative malignancies and chemotherapy/monoclonal antibody therapies) presenting with progressive neurological symptoms. Here, we describe a 63‐year‐old man who presented with left‐sided weakness, apraxia and neglect on a background of subtle cognitive decline. He had a past medical history of recurrent follicular lymphoma with chemotherapy. He was initially diagnosed as a stroke but deteriorated further and ultimately received a diagnosis of PML. Earlier recognition of this condition will help to facilitate research into this disease.
Charcot–Marie–Tooth (CMT) disease is the most common inherited peripheral neuropathy, but it is rarely reported from the Horn of Africa, and genetic testing is not available in Somalia. We describe a 53-year-old Somali man, born to consanguineous parents, with a 43-year history of slowly progressive distal limb weakness and gait impairment that began at about 10 years of age and had never been medically evaluated; his family attributed his stepping gait to trauma and mountain climbing. His siblings were examined and were unaffected, and his parents were deceased. Examination showed bilateral pes cavus with hammer and clawed toes, marked distal lower-limb wasting with an inverted champagne-bottle appearance (more severe on the right), foot drop, distal loss of vibration and proprioception and generalised areflexia, without nerve thickening, tremor, hearing loss or visual loss. Median and ulnar motor conduction velocities were 20-21 m/s, with prolonged distal and F-wave latencies, reduced amplitudes and absent lower-limb motor and sural responses, indicating a demyelinating-predominant sensorimotor polyneuropathy with secondary axonal loss. Glycated haemoglobin, vitamin B12, thyroid-stimulating hormone and HIV testing did not identify a common acquired cause. Because genetic testing was unavailable, we diagnosed a probable hereditary demyelinating neuropathy with a CMT Type 1–like phenotype; a recessive form or a de novo variant cannot be excluded. He received ankle–foot orthoses, physiotherapy and counselling, but benefited little, and his function later declined. Childhood-onset distal wasting with foot deformity, areflexia and uniformly slow conduction velocities should prompt suspicion of CMT even when the family history is negative and genetic testing is unavailable.
Sleep‐related hypermotor epilepsy (SHE) is a form of focal epilepsy that can be caused by a pathogenic autosomal‐dominant DEP domain containing Protein 5 (DEPDC5) variant. Given its variable clinical presentation and etiology, SHE can be challenging to diagnose and treat effectively. This case describes a father–daughter pair who experienced sleep‐related seizures with similar semiologies and were later diagnosed with autosomal dominant sleep‐related hypermotor epilepsy (ADSHE) after genetic test results revealed that they each had a DEPDC5 deletion in Exon 28. Currently, seizures are well controlled in the father with lacosamide plus brivaracetam and in the daughter with lacosamide alone. Due to the technically difficult nature inherent in diagnosing ADSHE, both father and daughter experienced diagnostic and treatment delays. This case report highlights the importance of early pattern recognition and genetic testing in patients with clinical features of ADSHE and expands upon the current understanding of clinical presentations of pathogenic DEPDC5 variants.
Cerebral venous sinus thrombosis (CVST) is an uncommon but potentially life‐threatening neurological complication of systemic lupus erythematosus (SLE) that requires prompt recognition and treatment. We report the case of an 18‐year‐old Bangladeshi woman with established SLE who presented with a 10‐day history of severe headache followed by rapidly progressive bilateral proptosis and sudden, painless bilateral visual loss. Neurological examination revealed complete bilateral visual loss, bilateral ptosis, restricted extraocular movements and multiple cranial nerve deficits. She had active SLE with severe thrombocytopaenia and haematological involvement. Brain magnetic resonance imaging and magnetic resonance venography demonstrated extensive thrombosis involving the superior sagittal, bilateral transverse and sigmoid and cavernous sinuses. Antiphospholipid antibody testing, including lupus anticoagulant, anticardiolipin antibodies and Anti‐β2‐glycoprotein I antibodies, was negative. The patient received therapeutic anticoagulation, high‐dose corticosteroids and immunosuppressive therapy with rituximab, followed by haematological and neurological improvement and subsequent recanalisation of the thrombosed dural venous sinuses. However, bilateral visual loss persisted, with optic disc pallor and optic atrophy. Optical coherence tomography, visual evoked potential testing, dedicated orbital imaging and formal neuro‐ophthalmological assessment were not performed; therefore, the precise mechanism of visual loss could not be definitively established. Nevertheless, ischaemic optic neuropathy was considered the most likely mechanism given the clinical presentation and extensive CVST. This case highlights that extensive CVST may occur in active SLE despite negative antiphospholipid antibody testing. It underscores the importance of early neuroimaging, timely anticoagulation and appropriate immunosuppressive therapy to minimise the risk of persistent neurological and visual sequelae.
Bickerstaff brainstem encephalitis (BBE) is a rare immune‐mediated disorder characterized by ophthalmoplegia, cerebellar ataxia, and impaired consciousness. It is now recognized as a variant of Guillain–Barré syndrome (GBS), sharing common pathogenic mechanisms with Miller Fisher syndrome. However, early diagnosis remains challenging, particularly when initial investigations are normal. We report a 20‐year‐old previously healthy woman presenting with rapidly progressive ophthalmoplegia, bulbar dysfunction, flaccid quadriparesis, areflexia, and impaired consciousness following a febrile upper respiratory illness. Early cerebrospinal fluid analysis and brain MRI were normal. Anti‐GQ1b antibodies were positive, and nerve conduction studies showed isolated proximal conduction abnormalities with absent F‐waves. The patient developed respiratory failure requiring mechanical ventilation and was treated with an extended course of plasma exchange, resulting in near‐complete recovery. This case highlights a critical diagnostic pitfall: BBE, a variant of GBS, can present with a life‐threatening brainstem syndrome despite entirely normal early investigations. We emphasize the value of recognizing the paradoxical combination of areflexia and extensor plantar responses and the use of F‐wave studies as an early electrophysiological foothold when standard studies are unrevealing. Furthermore, it demonstrates that even in catastrophic, ventilator‐dependent presentations, an extended course of plasma exchange can lead to a favorable outcome, suggesting a potential therapeutic strategy for severe presentations of BBE.
