Chorea‐Hyperglycemia‐Basal Ganglia (CHBG) syndrome, also referred to as diabetic striatopathy, is a very rare and poorly understood cause of chorea and ballismus. Common features of CHBG syndrome include unilateral chorea or ballismus, hyperglycemia, and basal ganglia hyperintensity on neuroimaging. We present two cases of CHBG syndrome who were hospitalized at our community hospital within a 1‐month period, an occurrence that is exceedingly rare. The first case presented with subacute progressive right‐sided hemiballismus and the second case presented with acute monochorea of the left upper extremity. Both cases presented with uncontrolled Type II diabetes mellitus with HbA1c values ≥ 14%. Both cases experienced symptoms that persisted despite sleep, which is an atypical characteristic among those with CHBG syndrome. In both cases, the formal radiology reports were interpreted as normal. Retrospective review identified faint T1‐weighted hyperintensity of the left basal ganglia in Case 1. In Case 2, the consulting neurologist questioned the presence of a very subtle T1‐weighted hyperintensity of the right putamen; however, this finding was not described in the formal radiology report, could not be definitively attributed to CHBG syndrome, and its significance remains uncertain. Both cases had significant improvement in their symptoms with strict glycemic management, and both were prescribed adjunctive antichorea medications for additional symptom control. CHBG syndrome is important for physicians to know about and be able to recognize in order to arrive at a timely diagnosis and avoid unnecessary diagnostic testing.
Guillain–Barré syndrome (GBS) is an acute, immune‐mediated disorder of the peripheral nervous system that is frequently associated with respiratory complications and bulbar dysfunction. Subclinical dysphagia and silent aspiration represent a significant yet frequently underestimated risk. This paper reports on the course of illness in two patients with particular emphasis on fiber‐optic endoscopic evaluation of swallowing (FEES)–based diagnostics of bulbar dysphagia and the application of the penetration‐aspiration score (PAS). In both cases, silent aspiration of fluids with a PAS score of 8 was initially observed without clinically manifesting respiratory symptoms. While one patient developed aspiration pneumonia eventually, the second patient demonstrated stable respiratory function despite persistent aspiration. The case studies demonstrate that FEES is a highly sensitive method for the early detection of subclinical dysphagia in GBS. Early instrumental swallowing diagnostics have been found to facilitate the detection of aspiration events, the initiation of preventive measures, and the reduction of potential respiratory complications. The prognostic significance of the PAS score with regard to respiratory failure should be systematically investigated in future studies.
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.
