Acute lower motor neuron syndrome and spinal cord gray matter hyperintensities in HIV infection

Objective: To describe a novel manifestation of lower motor neuron disease in patients with well-controlled HIV infection. Methods: A retrospective study was performed to identify HIV-positive individuals with acute, painful lower motor neuron diseases. Results: Six patients were identified with HIV and lower motor neuron disease. Two patients met the inclusion criteria of well-controlled, chronic HIV infection and an acute, painful, unilateral lower motor neuron paralytic syndrome affecting the distal portion of the upper limb. These patients had segmental T2-hyperintense lesions in the central gray matter of the cervical spinal cord on MRI. One patient stabilized and the second patient improved with immunomodulatory therapy. Conclusions: This newly described syndrome expands the clinical spectrum of lower motor neuron diseases in HIV

A 44-year-old man with eye, kidney, and brain dysfunction

Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of the three-prime repair exonuclease-1 (TREX1). The phenotypic expressions range from isolated retinal involvement to varying degrees of retinopathy, cerebral infarction with calcium depositions, nephropathy, and hepatopathy. We report a case of RVCL caused by a novel TREX1 mutation. This patient’s multisystem presentation, retinal involvement interpreted as “retinal vasculitis”, and improvement of neuroimaging abnormalities with dexamethasone led to the accepted diagnosis of a rheumatologic disorder resembling Behçet’s disease. Clinicians should consider RVCL in any patient with retinal capillary obliterations associated with tumefactive brain lesions or nephropathy

Treatment of IgG4-related disease-associated hypertrophic pachymeningitis with intrathecal rituximab: a case report

IgG4-related disease-associated hypertrophic pachymeningitis (IgG4RD-HP) is a fibroinflammatory autoimmune disorder in which diagnosis is difficult without biopsy. Guidance on management of disease refractory to glucocorticoids and intravenous rituximab is limited. We present the case of a 68-year-old woman with IgG4RD-HP who developed sensorineural hearing loss with associated bulky basilar pachymeningeal enhancement. Her cerebrospinal fluid was inflammatory and had an elevated IgG4 concentration, strongly suggestive of IgG4RD-HP. Biopsy of involved meninges was not possible due to surgical risk. Over years she developed bilateral optic neuropathies and hydrocephalus, requiring intravenous rituximab and ventriculoperitoneal shunt. Her disease was refractory to glucocorticoids. Despite maintenance intravenous rituximab, she developed slowly progressive symptoms of intracranial hypertension and hydrocephalus with persistently inflammatory spinal fluid. Switching to intrathecal rituximab therapy led to dramatic improvement in gait and headache and reduced pachymeningeal bulk and metabolic activity. In patients with IgG4RD-HP refractory to glucocorticoids and intravenous rituximab, intrathecal rituximab may be an efficacious therapy

Editorial - Mitochondrial neurological diseases: A clinician's perspective

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Neuro-Behcet Disease and Autoinflammatory Disorders

Misregulation of innate Immunity leads to autoinflammation. Behcet disease is an autoinflammatory condition involving recurrent attacks of inflammation in skin, eyes, joints, and even the nervous system. The etiology may involve vascular inflammation. Central nervous system involvement in neuro-Behcet disease (NBD) comes in the form of parenchymal NBD or nonparenchymal NBD. The parenchymal form has a predilection for the brainstem, diencephalon and cerebral hemispheres, and represents a meningoencephalitis thought to be related to small vessel vasculitis. Cerebral venous sinus thrombosis, arising from a vasculitic process of large veins, comprises the majority of vascular NBD cases. The rarer monogenetic autoinflammatory syndromes are characterized by periodic fever, and typically present in the pediatric population. Neurologic involvement in these syndromes typically presents in the form of an aseptic meningitis. Treatment of autoinflammatory disorders involves immune modulation with corticosteroids, disease-modifying antirheumatic medications, and increasingly antibodies targeting cytokines like tumor necrosis factor alpha and interleukin 1

Laboratory investigation of fungal infections of the central nervous system

While fungal infections of the central nervous system (CNS) are relatively rare, fungal pathogens are increasingly being recognized as an important etiology of CNS infections, particularly amongst the growing immunocompromized population. In this paper we aim to provide a practical approach to the diagnosis of fungal infections of the CNS, review some of the diagnostic methods currently available and discuss diagnosis of certain pathogens of particular interest to the practicing neurologist

Evidence of small-fiber neuropathy (SFN) in two patients with unexplained genital sensory loss and sensory urinary cystopathy

The term small-fiber neuropathy (SFN) refers to the type of polyneuropathies that preferentially damage the small unmyelinated and thinly myelinated sensory or autonomic neurons [1]. Skin biopsy to determine the epidermal nerve-fiber density (ENFD) is the most de- finitive method in the diagnosis of SFN, but autonomic function testing can also be useful [2]. Importantly, electromyography and surface nerve-conduction studies (EMG/NCS) do not capture the small scattered action potentials of small fibers, and thus are insensitive to small-fiber restricted neuropathies. Quantitative sensory testing is a subjective test that depends on patient volition, so it is not recommend- ed or reimbursed for clinical use [3]. Most generalized polyneuropathies first affect the distal parts of the limbs, such as the feet. They only rarely present proximally and the diagnosis of a non-length dependent SFN is usually associated with symptoms beginning in the hands, face, or torso. Onset in the pelvic region is rare and the diagnosis can be missed. We report on two patients with an unexplained syndrome of somatic and visceral uro-genital sensory deficit with histologic evidence of SFN