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2022 ◽  
pp. 1-4
Nikhil Vikas Pawar ◽  
Fatima Farid Mir

A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility. Initial evaluation revealed significant low serum copper and ceruloplasmin, electrical status epilepticus on electroencephalography, and generalized subcortical white matter changes with diffuse tortuosity of intracranial vessels on MRI brain. In addition, a genetic study with whole-genome sequencing demonstrated a hemizygous pathogenic variant at c.2179G>A p(Gly727Arg) on ATP7A, thereby confirming the diagnosis of Menkes disease. Symptomatic treatment with antiepileptic medications was provided along with an urgent referral to an advanced center for multidisciplinary care and copper histidine replacement therapy.

2022 ◽  
Vol 12 (1) ◽  
Dominique Endres ◽  
Thomas A. Pollak ◽  
Karl Bechter ◽  
Dominik Denzel ◽  
Karoline Pitsch ◽  

AbstractObsessive-compulsive disorder (OCD) is a highly disabling mental illness that can be divided into frequent primary and rarer organic secondary forms. Its association with secondary autoimmune triggers was introduced through the discovery of Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal infection (PANDAS) and Pediatric Acute onset Neuropsychiatric Syndrome (PANS). Autoimmune encephalitis and systemic autoimmune diseases or other autoimmune brain diseases, such as multiple sclerosis, have also been reported to sometimes present with obsessive-compulsive symptoms (OCS). Subgroups of patients with OCD show elevated proinflammatory cytokines and autoantibodies against targets that include the basal ganglia. In this conceptual review paper, the clinical manifestations, pathophysiological considerations, diagnostic investigations, and treatment approaches of immune-related secondary OCD are summarized. The novel concept of “autoimmune OCD” is proposed for a small subgroup of OCD patients, and clinical signs based on the PANDAS/PANS criteria and from recent experience with autoimmune encephalitis and autoimmune psychosis are suggested. Red flag signs for “autoimmune OCD” could include (sub)acute onset, unusual age of onset, atypical presentation of OCS with neuropsychiatric features (e.g., disproportionate cognitive deficits) or accompanying neurological symptoms (e.g., movement disorders), autonomic dysfunction, treatment resistance, associations of symptom onset with infections such as group A streptococcus, comorbid autoimmune diseases or malignancies. Clinical investigations may also reveal alterations such as increased levels of anti-basal ganglia or dopamine receptor antibodies or inflammatory changes in the basal ganglia in neuroimaging. Based on these red flag signs, the criteria for a possible, probable, and definite autoimmune OCD subtype are proposed.

K. V. Kristiansen ◽  
H. Schmökel ◽  
S. Vermeire

Abstract Objective The aim of this study was to review and describe cases of thoracolumbar (TL) hydrated nucleus pulposus extrusion (HNPE) diagnosed with magnetic resonance imaging and surgery, and compare them to cases of cervical (C) HNPE. Study Design Retrospective, single-center study. Results Thirty-six dogs met the inclusion criteria. Fifteen cases were C and 21 TL. Thirteen dogs were chondrodystrophic breeds, mean body weight was 13 kg, median age was 7.5 years, and 30/36 were male. Fewer dogs were chondrodystrophic in the C group compared with the TL group (p = 0.022). More than 90% had an acute onset, and strong activity was more often reported in the TL group. TL HNPE was more often painful, and extruded disc material more often lateralized (p = 0.017). Median Modified Frankel Score at presentation was 3 and 72.2% were non-ambulatory. More TL HNPE (11/21) were treated surgically compared with C HNPE (4/15). Treatment choice was correlated with spinal cord compression (p = 0.0075). Median Modified Frankel Score improved during hospitalization (p = 0.002) and there was no difference in outcome between C and TL HNPE or conservative and surgical treatment. Mean follow-up time was 33 days. All patients were ambulatory at follow-up. Conclusion This study suggests that the HNPE is not limited to the C vertebral column of dogs and can occur in the TL vertebral column as well. Dogs with TL HNPE show spinal hyperesthesia more often and extruded nucleus material is more often lateralized. Outcome is similar to what has previously been described for C HNPE.

2022 ◽  
pp. 000313482110547
Charles W. Armistead ◽  
Lauren E. Favors ◽  
Vincente A. Mejia

Gallbladder volvulus is a rare condition involving the rotation of the gallbladder about the cystic duct and vascular pedicle, compromising biliary drainage and blood flow. This report describes a case of gallbladder volvulus presenting in an 88-year-old female with acute onset of right upper quadrant abdominal pain, nausea, and vomiting. Complete work-up included a physical exam, laboratory studies, and computed tomography (CT), which was notable for a markedly distended gallbladder with circumferential wall thickening, pericholecystic fluid, a 12 mm common bile duct, and a hiatal hernia. Given that her initial presentation was consistent with acute cholecystitis, we elected to perform laparoscopic cholecystectomy. The definitive diagnosis of gallbladder volvulus was made intraoperatively after decompression of the gallbladder and visualization of counterclockwise rotation of the gallbladder around the hilum and the infundibulum. This case illustrates the challenge in preoperative diagnosis of gallbladder volvulus, which requires high clinical suspicion to provide prompt surgical intervention.

2022 ◽  
Vol 12 ◽  
Dan Zhang ◽  
Yigang Chen ◽  
Yonggang Hao ◽  
Xingyue Hu ◽  
Xudong He

Background and Purpose: Convulsive seizures related to posterior circulation stroke are considered rare. However, some patients with acute basilar artery occlusion (BAO) can present with convulsive movements. Misdiagnosed as seizures may delay the reperfusion therapy for acute BAO. In this study, we have summarized the clinical features and possible mechanisms of BAO presenting with convulsive movements.Methods: We performed an Institutional Review Board-approved institutional database query from 2015 to 2020 and a literature search of the online database PubMed. Clinical data were collected and analyzed.Results: In total, 14 patients with acute BAO presented with convulsions. There were 10 men and 4 women, with a mean age of 53 (range, 23–77) years. All of these patients had different degrees of impaired consciousness (100.0%, 14/14). Convulsive movements were the initial symptoms in 78.6% (11/14) of patients. Further, 64.3% (9/14) of patients presented with paralysis or cranial nerve abnormalities, and 85.7% (12/14) of patients were treated with reperfusion therapy (thrombolysis, 35.7% [5/14]; endovascular thrombectomy, 64.3% [9/14]). The BAO etiology and mechanism were related to embolism, vessel dissections, and severe stenosis of the right vertebral artery in 57.1% (8/14), 21.4% (3/14), and 7.1% (1/14) of patients, respectively; they were undefined in 14.3% (2/14) of patients. Moreover, 42.9% (6/14) of patients had a 90-day modified Rankin Scale score of 0–2, and the mortality rate was 21.4% (3/14).Conclusions: Acute BAO, especially that related to embolism or vessel dissection, may present with convulsive movements. Acute BAO is a devastating, but treatable disease if diagnosed in time. Considering the possibility of BAO is important when dealing with patients presenting with acute-onset convulsive movements. Prompt diagnosis and reperfusion therapy may help achieve a better prognosis.

2022 ◽  
Vol 26 (6) ◽  
pp. 35-42
D. R. Safina ◽  
A. R. Safina ◽  
A. M. Gizdatova ◽  
R. G. Esin

Acute onset of chronic infl ammatory demyelinating polyneuropathy (A-CIDP) presents signifi cant diffi culties in differential diagnosis with acute infl ammatory demyelinating polyneuropathy (AIDP). The article presents review of literature about diff erential diagnosis between A-CIDP and AIDP and a clinical case of A-CIDP at 26-year-old man. The disease started after vaccination against infl uenza and an episode of enteritis, the clinical picture matched Guillain–Barré syndrome criteria, according to electromyography data: demyelinating lesion of the left facial nerve, motor and sensory fi bers of the median and ulnar nerves on both sides, demyelinating lesions of motor fi bers of the tibial nerve and peroneal nerve on both sides. Chronic infl ammatory demyelinating polyneuropathy was diagnosed. Lack of eff ect from plasma exchange was the reason for changing the treatment to pulse therapy with prednisolone (with a subsequent transition to a 1 mg/kg dose and further reduction until canceled within 16 weeks). Response to prednisolone — rapid recovery of motor functions, which worsened signifi cantly due to a new coronavirus infection during treatment in the neurology department. Further continuation of prednisolone therapy made it possible to restore motor functions completely, except mild prosopoparesis. At the same time, deep refl exes were absent; no signifi cant EMG dynamics was observed. Considering the eff ect of glucocorticosteroids and lack of positive dynamics on the second electromyography, the patient was diagnosed as A-CIDP.

Katarzyna Sawczyńska ◽  
Kamil Wężyk ◽  
Magdalena Bosak ◽  
Jeremiasz Jagiełła ◽  
Szymon Andrasik ◽  

2022 ◽  
Vol 12 (2) ◽  
pp. 115-118
Monika Mehjabin ◽  
Mohammed Kamal ◽  
Md Abdus Sabur Talukder ◽  
Mizanur Rahman ◽  
Md Mozzamel Hoque ◽  

Meckel’s diverticulum, the most common congenital anomaly of small bowel although usually silent, can cause complications like intestinal obstruction, bleeding, diverticulitis, perforation etc. We report a case, which presented with acute onset of severe pain in right iliac fossa which was clinically and sonographically diagnosed as acute appendicitis. Histopathological report of appendix was non specific findings. Four days after appendectomy patient again came with features of acute abdomen. X-ray abdomen showed free gas under diaphragm. Abdomen was explored with a midline incision, a perforated Meckel’sdiverticulum was found which was managed by wedge resection and repair of the ileum. Histopathological examination of specimen revealed diverticular wall with normal appearing intestinal mucosa and muscle coat which showed two heterotrophic tissues (pancreatic and gastric ) in the wall.These also showed features of perforation and acute peritonitis. This is probably the first case of Meckel’s diverticulitis with heterotropic pancreatic and gastric tissue in Bangladesh. J Shaheed Suhrawardy Med Coll 2020; 12(2): 115-118

Danny Sack ◽  
Philip Hyndman ◽  
Melissa Milligan ◽  
Daniel Spector

Abstract CASE DESCRIPTION A 5-year-old spayed female domestic shorthair cat was evaluated because of an acute onset of dyspnea and open-mouthed breathing. CLINICAL FINDINGS Thoracic radiography revealed pleural effusion and signs consistent with restrictive pleuritis, and results of preoperative CT were consistent with diffuse, severe restrictive pleuritis, bilateral pleural effusion, and pulmonary atelectasis. Thoracocentesis yielded a red, turbid fluid that was identified as chylous effusion with chronic inflammation. TREATMENT AND OUTCOME Exploratory thoracotomy revealed diffuse, severe fibrous adhesions between the mediastinum, heart, lung lobes, and thoracic wall, with a thick fibrous capsule enveloping all lung lobes. Surgical treatment consisted of complete pleural decortication, pericardiectomy, and thoracic omentalization. The cat remained hospitalized for 6 days, receiving oxygen supplementation, multimodal analgesia, and supportive care. Long-term home care consisted of prednisolone administration, rutin supplementation, and provision of a low-fat diet. At recheck examinations 3-, 7-, and 20-weeks postoperatively, the cat remained tachypneic, but was otherwise clinically normal without dyspnea or respiratory distress. Follow-up thoracic radiography revealed improved pulmonary expansion, decreased pleural effusion, and resolved pneumothorax. CLINICAL RELEVANCE Surgical management of fibrosing pleuritis secondary to idiopathic chylothorax in cats has historically resulted in poor outcomes. This report details the first successful use of complete decortication in the surgical management of severe fibrosing pleuritis in a cat.

2022 ◽  
Vol 2 (1) ◽  
pp. 263502542110445
John R. Matthews ◽  
Ryan W. Paul ◽  
Kevin B. Freedman

Background: Triceps tendon ruptures typically result from a forceful elbow eccentric contraction. The goal of a distal triceps tendon repair is to reattach the torn tendon back to the olecranon. Surgery is indicated for patients with complete rupture of the triceps tendon or symptomatic partial tears with failed conservative management. The complication rate occurs in 22% of patients postoperatively; however, only 0% to 4% of patients suffer a re-rupture of the tendon. Indications: We present a case of a highly active 38-year-old right-hand dominant man with acute onset of left posterior elbow pain following 1-handed pushup resulting in a complete distal triceps avulsion with 1.5 cm retraction. Technique: The distal triceps avulsion was repaired in a double row fashion using 2 double-loaded all-suture anchors in the medial row and anchor in the lateral row through a posterior approach. Results: Full anatomic footprint coverage was able to be achieved intraoperatively, and gentle range of motion from 0 to 90 degrees of flexion did not result in gap formation. Discussion/Conclusion: Successful outcomes with full anatomic footprint coverage of the distal triceps tendon can be achieved through a double row repair configuration.

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