Search Results (6)

Background: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder that causes demyelination of both the central (CNS) and peripheral nervous systems (PNS). Objective: This study aims to report a unique MLD case presenting with cranial neuropathies and ataxia, initially without white matter changes on MRI, leading to diagnostic uncertainty. Results: A 20-month-old presented with bilateral abduction deficits, facial diplegia, and ataxia, raising the possibility of an acquired demyelinating condition. An MRI scan showed the enhancement of multiple cranial nerves, but normal white matter. A follow-up MRI showed new white matter changes that spared the U-fibers, suggesting a leukodystrophy. Biochemical assays were suggestive of metachromatic leukodystrophy, which was confirmed with genetic testing demonstrating a homozygous c.848+3A > G variant in ARSA. Conclusions: Our patient suggests that the initial presentation of MLD may mimic an acquired demyelinating condition and manifest with multiple cranial nerve palsies before more typical white matter changes evolve. Full article

Background: A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Patients and Methods: Different children aged from 1 month to 12 years were referred to our departments seeking orthopedic advice. Primarily, all received variable false diagnoses in other institutes. Two unrelated boys of one month and 12 months were falsely diagnosed as having positional plagiocephaly associated with contractures of idiopathic origin. Two unrelated boys of 14 months and 2 years were diagnosed with pseudo-hydrocephalus and non-specific syndrome, and were referred to explore their skeletal development. Two unrelated girls of 4 years old and 12 years old presented with multiple contractures were referred because of progressive scoliosis. A 4-year-old girl was referred with a false provisional diagnosis of facial diplegia. All children underwent detailed clinical, radiological and tomographic phenotypic characterizations and genetic testing, respectively. Results: Idaho syndrome (craniosynostosis associated with multiple dislocations) was the final diagnosis in the two unrelated boys with plagiocephaly and multiple contractures. Two children falsely diagnosed with pseudo-hydrocephalus and non-specific syndrome, were diagnosed with Silver–Russell syndrome (RSS). Contractural arachnodactyly Beals (CAB) was confirmed as the definitive diagnosis in the two unrelated girls with progressive scoliosis and multiple contractures. Parry–Romberg syndrome (PRS) associated with congenital lumbar kyphosis was the final diagnosis of the girl with the diagnosis of facial diplegia. Hypomethylation of ICR1 was confirmed in the RSS patients. Whole exome sequencing (WES) revealed a heterozygous mutation in the PRS patients. WES and array-CGH showed that no relevant variants or copy number variations (CNV) were identified in the CAB patients. Conclusions: On the one hand, newborn children can manifest diverse forms of abnormal craniofacial features, which are usually associated with either major or minor dysmorphic stigmata. A cleft lip/ palate is a major craniofacial malformation, and frontal bossing or a disproportionate craniofacial contour can be falsely considered as a transient plagiocephaly, which is spontaneously resolved by time. On the other hand, many physicians fall into the problem of deeming a countless number of diseases, such as contractures, as an idiopathic or non-specific syndrome. The latter stems from limited clinical experience. Therefore, failing to establish between the onset of the deformity and other inexplicit abnormal features that the patient or their immediate families or relatives carry is the final outcome. In this study, we used, for the first time, a reconstruction CT scan to further delineate the congenital disruption of the craniofacial anatomy and the other skeletal malformation complex. Full article

Unilateral facial nerve palsy (FNP) is one of the most common cranial mononeuropathies. Among rare etiologies, neurosarcoidosis (NS) can cause bilateral involvement (both recurring and simultaneous) only in 15% to 25% of cases. The rarity of this systemic disease and its clinical heterogeneity, due to granulomatous inflammation that may affect many anatomic substrates, frequently make the diagnosis a real challenge for the clinician. Based on laboratory and instrumental tests, a careful diagnostic algorithm must be adopted to avoid misdiagnosis and delay in treatment. We present a 52-year-old woman with an acute onset of unilateral right FNP, rapidly developing contralateral involvement (simultaneous bilateral FNP). Lung findings pointed towards a systemic disease, and then lymph node biopsy confirmed NS. Corticosteroid therapy was started. After three years of follow-up, the patient is still in remission with a low prednisone dose. We discuss the differential diagnosis of bilateral FNP, focusing on clinical presentation, diagnosis, and treatment of NS. We have performed a literature revision, confirming bilateral FNP, outside Heerfordt syndrome, to be rare and sometimes represent the only neurological manifestation of NS onset. Full article

Since the outbreak of the new coronavirus, healthcare systems around the world have witnessed not only COVID-19 symptoms but also long-term complications of the aforementioned, including neurological problems. We report a clinical case of an adult patient with bilateral facial nerve palsy and progressive ascending paresis of the limbs after contracting the novel coronavirus (COVID-19). Additionally, the systematic review aimed to identify and summarize specific clinical features, outcomes and complications of the studies focusing on bilateral facial diplegia as a sequela of COVID-19 infection. The total number of analyzed patients was 15. Only one patient was diagnosed with isolated bilateral palsy; the rest had Guillain-Barré Syndrome (GBS). With one exception, all the presented cases had favorable outcomes, with facial palsy recovery from slight to almost complete. In patients with a confirmed COVID-19 diagnosis, bilateral facial palsy may be an isolated symptom as well as a variant of GBS. Symptoms of cranial nerve damage during a COVID-19 infection may explain the appearance of facial nerve damage. In order to clarify the spectrum of neurological manifestations and a causal relation between SARS-CoV-2, COVID-19 vaccination and neurological symptoms, direct attention towards the study of this virus is crucial. It seems reasonable to recognize human coronavirus as another potential GBS trigger. Full article

Guillain-Barré syndrome (GBS) is an immune-mediated demyelinating disorder which attacks the peripheral nervous system. Antecedent infection or vaccine administration are known to precipitate the onset of this disorder. Its typical presentation leads to a symmetric, rapidly progressive, ascending paresis with associated sensory deficits and impaired reflexes. We present a rare case of a bi-facial diplegia variant of GBS, within four weeks of the COVID-19 vaccination. Due to its chronology, clinical manifestations, and cerebrospinal fluid (CSF) findings, we propose this case to be a rare complication of the COVID-19 vaccination. Full article

Guillain Barré syndrome (GBS) is a post-infectious acute autoimmune polyradiculopathy. Cerebrospinal fluid (CSF) total protein level and plasma neutrophil/ lymphocyte ratio (NLR) are related with autoimmune response. We aimed to reach a prognostic indicator for GBS by using electrophysiological findings, protein level of CSF, and plasma NLR based on Medical Research Council (MRC) sum score data. Cases who met diagnostic criteria of GBS and followed at least six months were enrolled in the study. Nerve conduction study (NCS) and lumbar puncture were performed one week after symptom onset. Routine CSF findings and complete blood count were recorded. Plasma NLR was calculated as the ratio of neutrophil cell count to lymphocyte cell count. All patients received intravenous immunoglobulin. MRC sum scores were calculated on administration time (1st) and six months later (2nd) for evaluation of recovery. Mean values of baseline CSF protein level, NCS parameters and NLR were compared with mean scores of MRC1st and MRC2nd. Increased CSF protein levels showed negative correlation with MRC2nd scores but no correlation with NCS. Increased NLR levels were positively correlated with age, MRC2nd scores and NCS. Facial diplegia was observed in 42% of patients. A positive correlation was found between high level of NLR and MRC1st, and there was no relationship with MRC2nd. Regression analyses showed that only CSF protein level was an independent factor on both MRC1st and MRC2nd. A positive association was found between baseline data included young age high plasma NLR, low level of CSF protein and good prognosis in our study. Also a positive correlation was found between high level of NLR and baseline disability in GBS cases with facial diplegia. Calculation of NLR is an easy and inexpensive method. On the other hand it may be influenced by age and immunotherapy. Our results showed that CSF protein level is still a liable parameter for prognosis. NLR could be a candidate prognostic marker of GBS cases. Further investigations including more cases are needed. Full article