Search Results (7)

Ataxia-telangiectasia is a rare autosomal recessive disorder that is difficult to diagnose due to its unpredictable presentation. It is characterized by cerebellar degeneration, telangiectasias, immunodeficiency, frequent pulmonary infections, and tumors. Immune system abnormalities manifest as disruptions in both cellular and humoral immunity. The most common findings include decreased levels of immunoglobulin classes (IgA, IgM, IgG, and IgG subclasses) and a reduced number of T and B lymphocytes. A four-year-old girl was initially evaluated and treated for skin lesions that presented as crusts spreading across her body. She was monitored by a pulmonologist due to frequent bronchial obstructions. Over time, she developed bilateral scleral telangiectasia, saccadic eye movements, and impaired convergence. Her gait was wide-based and unstable, with truncal ataxia and a positive Romberg sign. Laboratory tests revealed decreased immunoglobulin G levels, subclass IgG4 levels, elevated alpha-fetoprotein, and a reduced number of T and B lymphocytes. Brain magnetic resonance imaging showed cerebellar atrophy. Whole-exome sequencing identified heterozygous variants c.1564-165del, p.(Glu5221lefsTer43), and c.7630-2A>C in the serine/threonine-protein kinase ATM (ataxia-telangiectasia mutated) gene, confirming the diagnosis of ataxia-telangiectasia. Following diagnosis, treatment with intravenous immunoglobulin replacement was initiated along with infection prevention and management. The goal of this case report is to raise awareness of the atypical initial presentation that may lead to a diagnostic delay. We emphasize the importance of considering ataxia-telangiectasia in the differential diagnosis, even when classical neurological signs are not yet evident. Full article

Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencies (PCoQD)s. PCoQD is a potentially treatable condition; therefore, a correct and timely diagnosis is essential. After a brief presentation of the illustrative case of an Italian woman with this condition (due to a novel homozygous nonsense mutation in COQ8A), this article will review ataxias due to PCoQD. Full article

Background: Severe truncal ataxia associated with an inability to sit up without assistance (STA grade 3) is frequent in patients with central acute vestibular syndrome (AVS) involving the brainstem or cerebellum. When these patients have nystagmus, central HINTS excludes peripheral lesions; however, additional localization and lateralization signs are helpful, not only to resolve the peripheral versus central vestibular lesion dilemma, but to zero in on a precise lesion localization/lateralization to the lateral medulla, the most common ischemic lesion localization associated with an initially false-negative stroke MRI. Methods: This is a study of AVS patients with additional inclusion criteria: grades 2 or 3 ataxia with an eventual diagnosis of medullary stroke (MS), either involving the lateral medulla (LMS) or the medial medulla (MMS), and horizontal (h) gaze paralysis was the main exclusion criteria. All patients sat on the side of the bed or stretcher, with assistance if needed. A general neurologic examination followed in the sitting position, the testing protocol included the head impulse, spontaneous nystagmus, and skew deviation (HINTS) tests, followed by observation of the effect of brief 3–5 sec eyelid closure on ocular position, and saccade and pursuit eye movement tests. If they could sit, the protocol included the ability to stand with a wide base, then a narrow base, the Romberg test, and tandem gait. Radiographic lesion localization and horizontal gaze deviation concluded the protocol. Results: A total of 34 patients met the entry criteria, 34 MS (13 in the lateral medulla, 12 previously described, and 1 new patient), and 1 new MMS. Among them, n = 10/12 had grade 3 ataxia, and 3 (1 new patient) had grade 2 ataxia. In addition, overt ocular laterodeviation (OLD) was present in thirteen of them (35.3%). All OLD patients had gaze deviation and ipsilateral saccade and truncal lateropulsion, 1 medial medulla stroke patient had grade 3 truncal contrapulsion and contralateral hemiparesis without OLD, n = 20/21 patients with LMS without OLD had grade 3 truncal ataxia, and 1 had grade 2 truncal ataxia. Discussion: AVS patients with severe truncal ataxia (inability to sit without assistance) potentially have brainstem, cerebellum, or subcortical lesions. All patients had central HINTS; however, simultaneous direction-concordant STA 3 and OLD provided greater lateral medulla localization specificity, affecting the ipsilateral medulla. Future work to explore a practical posterior circulation stroke scale that includes HINTS, STA, and OLD will potentially select cases for thrombolysis even in the event of initially false-negative imaging. Full article

Acute vertigo and dizziness are frequent presenting symptoms in patients in the emergency department. These symptoms, which can be subtle and transient, present diagnostic challenges because they can be caused by a broad range of conditions that cut across many specialties and organ systems. Previous work has emphasized the value of combining structured history taking and a targeted examination focusing on subtle oculomotor signs. In this review, we discuss various diagnostic bedside algorithms proposed for the acutely dizzy patient. We analyzed these different approaches by calculating their area-under-the-curve (ROC) characteristics and sensitivity/specificity. We found that the algorithms that incorporated structured history taking and the use of subtle oculomotor signs had the highest diagnostic accuracy. In fact, both the HINTS+ bedside exam and the STANDING algorithm can more accurately diagnose acute strokes than early (<24 to 48 h after symptom onset) MRI with diffusion-weighted imaging (DWI). An important caveat is that HINTS and STANDING require moderate training to achieve this accuracy. Therefore, for physicians who have not undergone adequate training, other approaches are needed. These other approaches (e.g., ABCD2 score, PCI score, and TriAGe+ score) rely on vascular risk factors, clinical symptoms, and focal neurologic findings. While these other scores are easier for frontline providers to use, their diagnostic accuracy is far lower than HINTS+ or STANDING. Therefore, a focus on providing dedicated training in HINTS+ or STANDING techniques to frontline clinicians will be key to improving diagnostic accuracy and avoiding unnecessary brain imaging. Full article

Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected. Here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. Magnetic resonance imaging revealed the characteristic molar tooth sign of Joubert syndrome. He also has obsessive–compulsive disorder concomitantly, which is not a known feature of Joubert syndrome. Molecular genetic analysis revealed a homozygous c.2106G>A (p.(Thr702=)) variation in the Abelson helper integration 1 (AHI1) gene and another homozygous c.1739C>T (p.Thr580Ile) variation in the coiled-coil and C2 domain-containing protein 1A (CC2D1A) gene. Even though certain AHI1 variations were previously associated with Joubert syndrome (JS), c.2106G>A (p.(Thr702=)) was only reported in one patient in trans with another known pathogenic JS variant. The CC2D1A c.1739C>T (p.Thr580Ile) variation, on the other hand, has been reported to cause autosomal recessive nonsyndromic mental retardation, but there are conflicting interpretations about its pathogenicity. Overall, to our knowledge, this is the first patient representing a severe ciliopathy phenotype caused by a homozygous synonymous AHI1 variation. Further investigations should be performed to determine any involvement of the CC2D1A gene in ciliopathy phenotypes such as Joubert syndrome. Full article

Cerebellar Ataxia (CA) leads to deficiencies in muscle movement and lack of coordination that is often manifested as gait and balance disabilities. Conventional CA clinical assessments are subjective, cumbersome and provide less insight into the functional capabilities of patients. This cross-sectional study investigates the use of wearable inertial sensors strategically positioned on the front-chest and upper-back locations during the Romberg and Trunk tests for objective assessment of human postural balance due to CA. The primary aim of this paper is to quantify the performance of postural stability of 34 patients diagnosed with CA and 22 healthy subjects as controls. Several forms of entropy descriptions were considered to uncover characteristics of movements intrinsic to CA. Indeed, correlation with clinical observation is vital in ascertaining the validity of the inertial measurements in addition to capturing unique features of movements not typically observed by the practicing clinician. Both of these aspects form an integral part of the underlying objective assessment scheme. Uncertainty in the velocity contained a significant level of information with respect to truncal instability and, based on an extensive clustering and discrimination analysis, fuzzy entropy was identified as an effective measure in characterising the underlying disability. Front-chest measurements demonstrated a strong correlation with clinical assessments while the upper-back measurements performed better in classifying the two cohorts, inferring that the standard clinical assessments are relatively influenced by the frontal observations. The Romberg test was confirmed to be an effective test of neurological diagnosis as well as a potential candidate for objective assessment resulting in a significant correlation with the clinical assessments. In contrast, the Trunk test is observed to be relatively less informative. Full article

Dysautonomia in Guillain-Barre syndrome (GBS) rarely causes serious cardiovascular complications, such as sinus arrest. Miller Fisher syndrome (MFS) is recognized as a variant of GBS. There have been few reports regarding the association between MFS and dysautonomia. We describe a case of a 68-year-old man with ophthalmoplegia, bulbar palsy, truncal ataxia, and areflexia. He was diagnosed with MFS because he exhibited the classical clinical triad and had elevated serum anti- GQ1b immunoglobulin G levels. A magnetic resonance imaging scan of his head was normal. His 24-hour Holter recording showed sinus arrest. He was treated with intravenous immunoglobulin, whereupon his symptoms gradually improved. This included the sinus arrest, which was considered a symptom of dysautonomia in MFS. Therefore, clinicians should be mindful of dysautonomia not only in GBS patients, but also in cases of MFS. Full article