Nguyenboyd4891

We present the case of a three-year-old girl with normal family history who was admitted to our hospital for medical recovery. The patient had microcephaly, pontocerebellar hypoplasia, slight facial dysmorphism, axial hypotonia, epileptic seizures, absent walking skills and severe speech delay. Genetic testing identified a heterozygous intronic variant in the CASK gene, namely CASK c.278 + 5G>A, which has never been reported in the medical literature or in other databases (gnomAD, ClinVar, HGMD). In mammals as well as more distant species, the G nucleotide is fully conserved at this position, suggesting it may not tolerate variation. In silico tools predict the substitution to be deleterious. Pathogenic mutations of these gene are responsible of mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome, which overlaps completely with our patient's phenotype.IntroductionAmbulatory blood pressure monitoring (ABPM) is a non-invasive method of obtaining brachial artery pressure assessment over 24 hours while patients undergo normal daily activities. Side effects, such as peripheral petechiae, limb edema, and sleep disturbance, are usually mild and reversible. Case reportA 67-year-old male presented with excruciating left hand pain and weakness on waking up from night sleep, having worn a cuff on his left arm for a whole day in the context of 24-hour ABPM. Clinical extremeexamination confirmed hypoesthesia in the left median and ulnar nerve distribution and weakness solely affecting ulnar and sparing median innervated hand muscles. Neurophysiological testing was performed. Interestingly, although median and ulnar motor responses were abnormal the respective sensory responses were unremarkable. ConclusionTo our knowledge, this is the first reported case of simultaneous proximal median and ulnar neuropathy complicating 24-hour ABPM. From a neurophysiological standpoint, it is also intriguing as this is a rare case of peripheral neuropathy with prominent motor fibre involvement, but normal sensory responses.Background Omental torsion (OT) presents as a rare, infrequent pathology with often non-specific symptoms. This condition occurs when the greater omentum is twisted around its axis, producing perfusion defects and vascular impairment of the organ. buy RSL3 This case report describes an overweight 26-year-old Caucasian man presenting with acute abdomen in previous appendectomy, whose definitive surgical diagnosis was omental torsion. Omental torsion is a rare pathology regarding the causes of acute abdomen associated with a challenging diagnosis. IntroductionOmental torsion presents as a rare, infrequent pathology with often nonspecific symptoms. This condition occurs when the greater omentum is twisted around its axis producing perfusion defects and vascular impairment of the organ. Often, the only sign is pain in the right iliac fossa in the absence of fever, vomiting or other symptoms. The causes are not known exactly and may range from congenital malformations to tumors or previous surgeries. Case report This case report describes an overweight 26-year-old Caucasian man presenting with acute abdomen in previous appendectomy and the definitive surgical diagnosis was omental torsion. ConclusionOmental torsion is a rare pathology regarding the causes of acute abdomen associated with a challenging diagnosis. However, the patient's history and correct use of diagnostic images, mainly the CT of the abdomen, can help in the diagnosis. Surgical exploration remains the definitive gold standard.IntroductionAcute management of low-grade but life-threatening ruptured arteriovenous malformations (AVM) with simultaneous hematoma evacuation remains controversial. The current report aimed to present a case series of multimodality management of low-grade (Spetzler-Martin I-II) but life-threatening ruptured arteriovenous malformations. MethodsA consecutive case series of six Spetzler-Martin (SM) grade I-II ruptured AVM patients with concurrent life-threatening hematoma initially treated with hematoma removal and, when possible, with simultaneous AVM extirpation is presented. Supplementary treatment was also applied when deemed necessary. Median clinical follow-up was 15.6 months. Neurological assessment was performed on admission (Glasgow coma scale score - GCS) and at final follow-up (modified Rankin scale score - mRS). ResultsIntraparenchymal hematoma was evacuated in all six cases, with simultaneous AVM extirpation in three cases. Preoperative embolization was done in one patient, whereas postoperative embolization was performed in three additional patients. Supplementary radiosurgery was applied in one patient. Complete AVM occlusion was achieved in all patients. At the final follow-up (15.6 months), 33.3% of patients were asymptomatic, 50% had a non-significant or slight disability (mRS score 1-2), whereas one patient died. All patients with preoperative GCS score of 8 or higher had a favorable outcome. ConclusionAcute surgical hemorrhagic clot evacuation as first step, followed by simultaneous AVM extirpation when feasible, may result in favorable clinical outcome in ruptured low-grade (SM I&II) brain AVMs with life-threatening hematoma. Embolization has a supplementary role in the acute phase of treatment either by either securing the bleeding source preoperatively or occluding the residual malformation especially in cases of technically demanding AVM removal.Solitary fibrous tumor of the pleura is a rare type of tumor originating from the mesenchyma of the pleura. It is traditionally a benign lesion. However, in some cases malignant features have been observed. The majority of solitary fibrous tumors of the pleura are noticed by accident on chest X-ray, while the main symptoms include cough, thoracic pain and dyspnea. When growing within the thoracic cavity, these tumors exert pressure on vital adjacent tissues and large vessels. In addition, these tumors can be accompanied with paraneoplastic syndromes that are completely resolved after tumor resection. Respiratory failure is a rare complication of this tumors, which is reported in a handful of cases. Herein, we report a rare case of a benign solitary fibrous tumors of the pleura in a 75-year-old woman complicated with type II respiratory failure.