Hashimoto’s Encephalopathy: An Unusual Cause of Autoimmune Encephalopathy in a Clinically and Biochemically Euthyroid Patient

Objectives: To highlight the occurrence of Hashimoto’s encephalopathy – a steroid-responsive encephalopathy associated with elevated antithyroid antibodies. Material and methods: We describe a clinically and biochemically euthyroid patient with an encephalopathy presenting with headache, mild confusion and personality changes for 6 weeks and tonic–clonic seizures upon admission Results: There was no obvious infective or metabolic cause. The patient had a high titre of antithyroid antibodies and responded to steroid therapy. Conclusion: This uncommon disease needs to be considered in patients presenting with neurological symptoms that remain unexplained after routine standard investigations, even when the patient is euthyroid. Early diagnosis is important, as this is a treatable condition.

Non-acute Transient Reversible Adrenal Insufficiency in a Survivor of Critical Illness: A Lesser-known Cause of Primary Adrenal Insufficiency

Objectives: Primary adrenal insufficiency AI is regarded as a progressive disease needing lifelong replacement therapy, but this may not always be the case. Material and methods: A non-acute presentation of AI following a hypotensive episode caused by blood loss was investigated. Results: Adrenal function fully recovered without treatment. Conclusions: There should be a high index of suspicion and a low threshold for performing tests of adrenal function in survivors of critical illness and severe hypotensive episodes.

A Rare Cause of Chronic Low Back Pain

Objectives: Autosomal dominant osteopetrosis (ADO) is a rare genetic disease characterized by increased bone mass and density due to defective bone resorption. The aim of this case study is to present the clinical and radiographic features of a 22-year-old male patient with ADO and to serve as a reminder that this rare disease should be considered in the differential diagnosis of chronic low back pain. Materials and methods: A 22-year-old patient with ADO is presented in this case report. Results: Clinical and radiographic features of the patient were consistent with ADO. Conclusions: ADO should be taken into consideration in differential diagnosis of low back pain.

“Saved by the Pacing Catheter”: Gigantic Right Atrial Thromboembolus as a Cause of Pulmonary Embolism

Pulmonary embolism (PE) related to the presence of right heart thromboemboli entails a higher mortality rate than PE alone. Furthermore, right heart thromboemboli are often associated with deep venous thrombosis. The most effective therapy for haemodynamically stable patients remains unknown, although recent data suggest that thrombolytic therapy is associated with a better outcome. We describe the case of an 83-year-old woman, hospitalized with PE consequent to right heart thrombus-in-transit, in whom investigation revealed a concomitant deep venous thrombosis. She required thrombolysis, given the high mortality risk that is traditionally associated with this clinical entity.

A Rare Cause of Confusion: Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis

An 81-year-old female patient required numerous admissions for symptoms of confusion, visual hallucinations, myoclonus and seizures, which were treated as stroke, infections and viral encephalitis with some improvement after treatment but with recurrence that caused her to be readmitted to hospital. On the last admission, she was found to have very high antithyroid antibodies and a diagnosis of Hashimoto’s encephalopathy was made, with an overwhelming response to steroids.

Deep Venous Thrombosis (DVT) in Lower Extremity Amputation as Cause of Pulmonary Embolism

The authors describe the case of a 43-year-old man with a right-leg knee amputation performed 14 years prior. He presented to hospital with dyspnea. A pulmonary embolism was detected. A Doppler ultrasound test showed deep vein thrombosis (DVT), which affected the stump of the amputated limb. When a pulmonary embolism is detected in a patient with an amputated lower limb, an exploration of the stump should be performed to rule out this uncommon complication.

An Unexpected Cause of Marked Weight Loss Associated with Vomiting in an Adult Man: Gastric Phytobeozar

Objectives: We present the case of an edentulous 47-year-old farmer referred to our Department of Internal Medicine because of postprandial vomiting, hyporexia, asthenia and weight loss. He ate a mostly vegetarian diet. Materials and methods: An oesophagogastroduodenoscopy revealed the presence of a phytobezoar at the level of the fundus and body of the stomach. Endoscopic fragmentation and removal of the phytobezoar were unsuccessful and the patient had to undergo open surgery. Results: Recovery was uneventful and free of complications. Conclusion: Phytobezoars should be taken into account in the differential diagnosis of unexplained vomiting and weight loss.

Criminels ou patients? La non-responsabilité criminelle pour cause de troubles mentaux : Le difficile mariage entre justice et santé

Cet essai est une analyse du régime juridique applicable aux accusés qui ont été reconnus non-responsables criminellement pour cause de troubles mentaux en vertu de l'article 16 du Code criminel. Nous exposons tout d'abord l'historique dudit verdict lequel mène à un suivi à double volets, soit juridique et médical, dont nous détaillons le cadre normatif dans une seconde partie. Le premier volet est assuré par une instance administrative alors que le second relève d'un hôpital. Le suivi à double volets sous-tend donc la cohabitation de deux domaines aux objectifs distincts, à savoir la protection de la société à l'égard d'un accusé ayant commis un acte criminel pour l'un et le traitement d'un patient psychiatrique pour l'autre. Les hôpitaux, et plus particulièrement les psychiatres, se retrouvent ainsi avec l'obligation de jongler avec le droit criminel, tout en poursuivant leur objectif principal, soit le traitement de leurs patients. Dans ce contexte, le présent essai tente d'étudier les conséquences potentielles de la rencontre de ces deux domaines sur les droits des accusés. En effet,la mise en place du suivi à double volets visait un respect plus adéquat des droits et libertés des accusés ainsi qu'une meilleure prise en charge médicale de leurs besoins aux fins de leur offrir un traitement approprié. Toutefois, les tensions existant entre le domaine juridique et celui de la santé permettent-elles vraiment d'atteindre de tels objectifs?

Limiting glutamate transmission in a Vglut2-expressing subpopulation of the subthalamic nucleus is sufficient to cause hyperlocomotion

The subthalamic nucleus (STN) is a key area of the basal ganglia circuitry regulating movement. We identified a subpopulation of neurons within this structure that coexpresses Vglut2 and Pitx2, and by conditional targeting of this subpopulation we reduced Vglut2 expression levels in the STN by 40%, leaving Pitx2 expression intact. This reduction diminished, yet did not eliminate, glutamatergic transmission in the substantia nigra pars reticulata and entopeduncular nucleus, two major targets of the STN. The knock-out mice displayed hyperlocomotion and decreased latency in the initiation of movement while preserving normal gait and balance. Spatial cognition, social function, and level of impulsive choice also remained undisturbed. Furthermore, these mice showed reduced dopamine transporter binding and slower dopamine clearance in vivo, suggesting that Vglut2-expressing cells in the STN regulate dopaminergic transmission. Our results demonstrate that altering the contribution of a limited population within the STN is sufficient to achieve results similar to STN lesions and high-frequency stimulation, but with fewer side effects.

Intravascular Lymphoma as an Uncommon Cause of Anasarca

Objectives: To report a case of intravascular lymphoma (IVL) in a Caucasian patient who presented with anasarca as his sole clinical sign. Material and Methods: A man presented with anasarca-type oedema and fatigue. After excluding heart failure, hepatic cirrhosis, nephrotic syndrome, hypothyroidism, AL-amyloidosis and adverse drug reaction which can all cause oedema, we turned our attention to capillary permeability disorders. Results: Closer review of the bone marrow aspirate demonstrated haemophagocytic histiocytosis, while core, renal and duodenal biopsies showed a B-cell IVL. Conclusion: The differential diagnosis of anasarca, a relatively common clinical sign, should include IVL although the diagnosis may still be challenging.

Étude de la toxicité causée par le gène C9orf72 dans la Sclérose Latérale Amyotrophique

La Sclérose Latérale Amyotrophique (SLA) est une maladie neurodégénérative qui affecte les neurones moteurs. 10% des cas sont des cas familiaux et l’étude de ces familles a mené à la découverte de plusieurs gènes pouvant causer la SLA, incluant SOD1, TARDBP et FUS. L’expansion de la répétition GGGGCC dans le gène C9orf72 est, à ce jour, la cause la plus connue de SLA. L’impact de cette expansion est encore méconnu et il reste à déterminer si la toxicité est causée par un gain de fonction, une perte de fonction ou les deux. Plusieurs gènes impliqués dans la SLA sont conservés entre le nématode Caenorhabditis elegans et l’humain. C. elegans est un vers transparent fréquemment utilisé pour des études anatomiques, comportementales et génétiques. Il possède une lignée cellulaire invariable qui inclue 302 neurones. Aussi, les mécanismes de réponse au stress ainsi que les mécanismes de vieillissement sont très bien conservés entre ce nématode et l’humain. Donc, notre groupe, et plusieurs autres, ont utilisé C. elegans pour étudier plusieurs aspects de la SLA. Pour mieux comprendre la toxicité causée par l’expansion GGGGCC de C9orf72, nous avons développé deux modèles de vers pour étudier l’impact d’une perte de fonction ainsi que d’un gain de toxicité de l’ARN. Pour voir les conséquences d’une perte de fonction, nous avons étudié l’orthologue de C9orf72 dans C. elegans, alfa-1 (ALS/FTD associated gene homolog). Les vers mutants alfa-1(ok3062) développent des problèmes moteurs causant une paralysie et une dégénérescence spécifique des neurones moteurs GABAergiques. De plus, les mutants sont sensibles au stress osmotique qui provoque une dégénérescence. D’autre part, l’expression de la séquence d’ARN contenant une répétition pathogénique GGGGCC cause aussi des problèmes moteurs et de la dégénérescence affectant les neurones moteurs. Nos résultats suggèrent donc qu’un gain de toxicité de l’ARN ainsi qu’une perte de fonction de C9orf72 sont donc toxiques pour les neurones. Puisque le mouvement du vers peut être rapidement évalué en cultivant les vers dans un milieu liquide, nous avons développé un criblage de molécules pouvant affecter le mouvement des vers mutants alfa-1 en culture liquide. Plus de 4 000 composés ont été évalués et 80 ameliore la mobilité des vers alfa-1. Onze molécules ont aussi été testées dans les vers exprimant l’expansion GGGGCC et huit diminuent aussi le phénotype moteur de ces vers. Finalement, des huit molécules qui diminent la toxicité causée par la perte de fonction de C9orf72 et la toxicité de l’ARN, deux restaurent aussi l’expression anormale de plusieurs transcrits d’ARN observée dans des cellules dérivées de patient C9orf72. Avec ce projet, nous voulons identifier des molécules pouvant affecter tous les modes de toxicité de C9orf72 et possiblement ouvrir de nouvelles avenues thérapeutiques

Abdominal epilepsy as an unusual cause ofabdominal pain: a case report.

Introduction: Abdominal pain, in etiology sometimes difficult to be defined, is a frequent complaint in childhood. Abdominal epilepsy is a rare cause of abdominal pain. Objectives: In this article, we report on 5 year old girl patient with abdominal epilepsy. Methods: Some investigations (stool investigation, routine blood tests, ultrasonography (USG), electrocardiogram (ECHO) and electrocardiograpy (ECG), holter for 24hr.) were done to understand the origin of these complaints; but no abnormalities were found. Finally an EEG was done during an episode of abdominal pain and it was shown that there were generalized spikes especially precipitated by hyperventilation. The patient did well on valproic acid therapy and EEG was normal 1 month after beginning of the treatment. Discussion: The cause of chronic recurrent paroxymal abdominal pain is difficult for the clinicians to diagnose in childhood. A lot of disease may lead to paroxysmal gastrointestinal symptoms like familial mediterranean fever and porfiria. Abdominal epilepsy is one of the rare but easily treatable cause of abdominal pain. Conclusion: In conclusion, abdominal epilepsy should be suspected in children with recurrent abdominal pain.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

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Spinous Process Osteochondroma as a Rare Cause of Lumbar Pain

We present a case of a 5th Lumbar Vertebra (L5) spinous process osteochondroma as a rare cause of lumbar pain in an old patient. A 70-year-old male presented with progressive and disabling lower lumbar pain. Tenderness over the central and left paraspinal area of the lower lumbar region and a palpable mass were evident. CT scan showed a mass arising from the spinous process of L5. Marginal resection of the tumor was performed through a posterior approach. The histological study revealed an osteochondroma. After surgery, pain was completely relieved. After one year there was no evidence of local recurrence or symptoms. Osteochondromas rarely involve the spine, but when they do symptoms like pain, radiculopathy/myelopathy, or cosmetic deformity may occur. The imagiologic exam of election for diagnosis is CT scan. When symptomatic the treatment of choice is surgical resection. The most concerning complication of osteochondromas is malignant transformation, a rare event.