Acute infarction of corpus callosum due to transient obstructive hydrocephalus.

Acute ischemia of the corpus callosum (CC) is not a well-known feature in patients with acute hydrocephalus. Herein, we describe a case with acute CC infarction due to another rare entity; transient obstructive hydrocephalus. A 66-year-old male was admitted with sudden onset right-sided hemiparesia. CT demonstrated a hematoma on the left basal ganglia with extension to all ventricles. The following day, the patient's neurological status progressed to coma and developed bilateral pyramidal signs. MRI demonstrated obstructive hydrocephalus and acute diffuse infarction accompanied by elevation of the CC. On the same day there was improvement in his neurological status with significant decrease in ventricular size and complete resolution of the clot in the third ventricle. The mechanism of signal abnormalities is probably related with the neural compression of the CC against the falx. Presumably, the clot causing obstruction in the third ventricle dissolved or decayed by the help of fibrinolytic activity of CSF, which was raised after IVH and caused spontaneous improvement of hydrocephalus. Bilateral neurological symptoms suggest diffuse axonal damage and normalization of the intracranial pressure should be performed on the early onset of clinical detorioration in order to prevent axonal injury.

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not explain his symptoms. Exome sequencing of the proband's blood DNA showed a homozygous c.626-1G > C mutation in intron 5 of the SAMHD1 gene, which encodes a triphosphohydrolase involved in the regulation of intracellular dNTP pools and which is mutated in Aicardi-Goutieres syndrome. The RNA studies confirmed aberrant splicing of exon 6, and family studies showed that both parents are heterozygous for this mutation. We conclude that mutations in SAMHD1 - in addition to causing an early-onset form of encephalopathy in Aicardi-Goutieres syndrome - may present with modest signs of accelerated aging similar to Werner syndrome. The extent to which heterozygosity at the WRN locus may modify the effect of biallelic SAMHD1 mutations is unknown. It is conceivable that synergistic effects of these two mutations might be responsible for the unusual phenotype.

Pupillary Involvement in Miller Fisher Syndrome.

Miller Fisher Syndrome is characterised by the classical triad of ophthalmoplegia, ataxia, and areflexia. Ophthalmoparesis without ataxia, without areflexia, or with neither have been attributed as atypical forms of MFS. We report two patients with MFS who had tonic pupils and raised anti-GQ1b antibody titres. Bilateral dilated pupils (either tonic or fixed) can be a manifestation of MFS and anti-GQ1b immunoglobulin G (IgG) antibodies are useful to confirm the diagnosis in unexplained cases. The site of involvement is thought to be the ciliary ganglion or short ciliary nerves.

Axial posture disorders in Parkinson's disease: Clinical correlates and future treatment directions1.

BACKGROUND: Postural disorders are frequently observed in Parkinson's disease (PD). The underlying mechanisms that cause postural disorders are not fully understood and the majority of these disorders have no response to antiparkinsonian treatments. These disabling conditions require further investigation to better understand the underlying mechanisms in order to develop effective treatments. OBJECTIVE: The aim of this study was to investigate the frequency of axial postural disorders in PD and to determine the associated clinical risk factors. METHODS: In this single-center clinical trial, the data of PD patients were reviewed retrospectively. The frequencies of postural disorders were determined, and the demographic clinical characteristics of the patients were compared. RESULTS: The records of 127 patients with idiopathic PD were analyzed. Axial posture disorders were found in 42.6% of patients. Patients with axial posture disorders were older when the disease onset was detected, amongst these patients the condition was also longer lasting. The mean levodopa dose was higher in the patients with posture disorders. The initial symptom was bradykinesia and the Hoehn and Yahr's score was ⩾ 3 in the majority of the patients with posture disorder. Additionally, constipation, hallucinations, postural instability, and falls were significantly more common in patients with posture disorders. CONCLUSION: Posture disorders were observed in nearly half of PD patients and were more frequently observed in patients with an advanced condition. In addition, our investigation has found that it is crucial to follow up with patients who present with bradykinesia for the development of postural disorder.

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.

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.

The Sole Initial Imaging Finding in Creutzfeldt-Jacob Disease: Focal FDG-PET Hypometabolism.

Laboratory studies such as electroencephalography, cerebrospinal fluid examination and diffusion-weighted magnetic resonance imaging (DWI-MRI) are valuable in the diagnosis of Creutzfeldt-Jacob disease (CJD),. However, these laboratory studies may not show the characteristic findings in the very early stage of the disease. Here, we present a case of CJD who had atypical neurologic presentation initially and had only a focal parietal 2-(18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) hypometabolism as the sole imaging abnormality at the beginning. The patient progressed rapidly, and showed typical neurological findings for CJD. The brain MRI was performed two weeks after the FDG-PET study, finally demonstrated increased signal intensity in DWI in caudat nucleus, putamen, and cerebral cortex, especially on left parietal region. Imaging methods demonstrating functional alterations in the brain should be obtained in the early period in patients with normal MRI suspected having CJD. Repeating DWI could also be an effective diagnostic approach.

Progressive Onset Multiple Sclerosis: Demographic, Clinical and Laboratory Characteristics of Patients With and Without Relapses in the Course.

AMAÇ: Primer progresif multipl skleroz (PPMS) ve progresif relapsing multipl skleroz (PRMS) baslangiçtan beri olan progresyon ile karakterize MS tipleridir. Nadir görülmelerinden dolayi, literatürde diger MS formlarina göre daha az bilgi bulunmaktadir. Bu çalismanin amaci progresif baslangiçli MS (PBMS) hastalarinda klinik ve laboratuvar özelliklerini ortaya koymaktir. YÖNTEM: PBMS hastalari 2010-2014 yillari arasinda degerlendirilip demografik, klinik özellikleri ve beyin omurilik sivisi (BOS) bulgulari belirlendi. BULGULAR: Otuz iki PBMS hastasi ile ilgili veriler degerlendirildi. Hastalik seyri 24 hastada relaps olmadan (PPMS), sekiz hastada ise relapsli progresifti (PRMS). Kadin/erkek orani tüm grupta 1'di. Ortalama baslangiç yasi tüm grup için 40 (23-55) yasti. Gruplar arasinda hastalik baslangiç yasi ortancasi anlamli farkli bulunmadi (p=0,053). En sik prezantasyon belirtisi motor bozukluklardi. Relapslar tüm hastalarda hastaligin ilk 10 yilinda görüldü. BOS analizinde oligoklonal bant pozitifligi ve artmis IgG indeksi açisindan gruplar arasinda fark saptanmadi (p=0,938, p=0,058). Hastalik süresi her iki grupta da benzer oldugu halde, PPMS grubunda degerlendirme sirasinda ortanca EDSS skoru daha yüksek bulundu (p=0,020). SONUÇ: Çalismamiz Türk PBMS hastalarinin klinik seyir ve laboratuvar bulgularina odaklanmis ilk çalismadir. Iki grubun klinik ve laboratuvar bulgularinin karsilastirilmasi benzer sonuçlar göstermistir. Gruplar arasinda hastalik baslangiç yasi ve artmis IgG indeksi açisindan farklilik olup olmadigini netlestirmek için gelecekte daha genis örneklemli çalismalar yapilmasi gerekmektedir.

Acute Disseminated Encephalomyelitis after Oral Therapy with Herbal Extracts: A Case Report.

BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is a rare demyelinating disease of the central nervous system, commonly attributed to infections or vaccinations. Toxic or allergenic compounds can also trigger a response in the immune system and may cause demyelination. We present a case with ADEM after using oral herbal medications. CASE REPORT: A 25 year-old male developed bilateral central facial palsy and severe quadriparesis after taking herbal drugs (containing echinacea and many other herbal ingredients) for two weeks. He had used the extract to increase his potency and reproductivity. He had no past history of recent immunization or viral infection. The clinical findings, cerebrospinal fluid (CSF) analysis and brain magnetic resonance imaging (MRI) were compatible with ADEM. The neurological findings were improved after seven doses of pulse methylprednisolone treatment. To our knowledge, this is the third report in the literature that links herbal therapy and demyelinating disease. CONCLUSION: Most of the ADEM cases related to herbal therapy in the literature similarly used echinacea. It is our opinion that other ingredients of the herbal extract used by our case, besides echinacea, could have the potential to cause a trigger in the immune system. Further studies are needed to clarify the immunological effects of different kinds of herbal compounds, as well as the effects of different parts of the plants and the results of various dosages. Moreover, ingredients should also be tested for toxicity, adverse effects and drug interactions.