Journal of Clinical Case Reports

Megalencephaly is a neuronal migration disorder characterized by an abnormally large brain. Numerous associated syndromes and various molecular mutations have been identified as an etiology for megalencephaly, however, SCN2A mutations have not been previously described. This report highlights a case of a term male megalencephalic neonate who presents with intractable seizures, who was found to have SCN2A gene variant that has now been identified as pathogenic. This patient expands our knowledge of the phenotypic spectrum of SCN2A mutations by adding consideration for macroscopic brain findings. Currently, we have no direct link between SCN2A mutations and megalencephaly, but our patient highlights the potential overlap in disease processes. It is possible that the biochemical disturbance associated with abnormal neuronal migration also affects the neuronal circuitry, thus increasing the propensity for electrical dysfunction and manifesting as seizures.

Background: Immune checkpoint inhibitors have emerged as a valuable therapeutic option in many types of advanced cancer, including small cell lung cancer. However, more research and data are still needed to understand how to better combine and sequence immunotherapy with classical chemotherapy agents in order to improve survival. Moreover, identifying and managing immune-related adverse events is still challenging.

Case presentation: We report a case of a recurrent small cell lung cancer. The patient was referred for inclusion in a clinical trial after progression of the disease despite two lines of therapy. After discontinuing both the nivolumab and ipilimumab treatment because of grade 3 hepatitis and grade 2 pneumonitis, and also after progression to a fourth line treatment with chemotherapy, the patient was rechallenged with compassionate use nivolumab monotherapy. This therapy was discontinued due to SOX1-positive dysarthria-clumsy-hand syndrome, which improved with corticosteroid therapy. After almost one year, the tumor remained stable reinforcing the idea that the cause of the complication was an immune-related encephalitis due to anti-PD1. Despite the severe toxicity, the patient achieved a long-term survival of almost four years.

Conclusion: The remarkable long-term survival obtained with immunotherapy rechallenge in this small cell lung cancer patient is promising for its future use in this setting characterized by a poor prognosis. However, immunotherapy rechallenge is not without risks. In fact, this is also the first case report on SOX1-positive autoimmune encephalitis due to anti-PD1. It also highlights the need of a careful diagnosis and therapy monitoring to prevent and mitigate potential irAEs.

We reported a case of Wunderlich’s syndrome in a patient with massive retroperitoneal haemorrhage who was admitted to the Emergency Department with acute onset right flank pain that began in the previous 2 days. During the stay in ED, unstable hemodynamics were occurred due to haemorrhagic shock and nephrectomy was planned. In the postoperative period, the patient had good convalescent and no complications were detected. After 10 days of follow-up, the patient was hemodynamically stable, blood laboratory results were normal and the patient was discharged. In addition, no hemorrhage, no metastasis and no recurrence were observed at the end of the 6-months follow-up.

Aim: To report a rare case of valsalva retinopathy in adult following a cardiopulmonary resuscitation.

Case report: A 35-year-old man admitted to intensive care unit for acute exacerbation of bronchial asthma secondary to pneumonia and received cardiopulmonary resuscitation during the admission. Post extubation, he noted bilateral central reduce vision with visual acuity of 6/60 in the right eye and 6/24 in the left eye. Fundus examination showed bilateral pre-macular haemorrhage. Patient was treated conservatively and regain normal vision after six weeks with complete resolution of the pre-retinal haemorrhage.

Conclusion: Valsalva retinopathy is a well-described phenomenon which happen due to increase intrathoracic pressure causing rise in intravenous ocular pressusre leading to rupture of retinal capillaries. A pre-retinal haemorrhage in the macula is the usual finding at presentation. Although it involved the central area of macula, prognosis is good as seen in this case complete anatomical improvement is observed within months.

Aim: To explore the clinical characteristics and challenges involved in treating group B streptococcal (GBS) infection in neonates and infants.

Methods: Clinical data of group B streptococcal infections in new-borns and infants (≤ 3 months old) admitted to The Children’s Hospital, Zhejiang University School of Medicine, Department of Neonatology from May 2015 to January 2018 were retrospectively analysed. The clinical characteristics of group B streptococcal infection, difficulties involved in its treatment and its prognosis were analysed.

Results: A total of 52 patients were studied, among which, 29 were males and 23 were females. There were 39 neonates ageing from zero to 28 days and 13 infants ageing from 29 to 90 days. The age of onset was <7 days in 15 cases and >7 days in 37 cases. Premature infants were 12 in number and full-term infants, 40. The average duration from onset to hospitalization ranged from half a day to one day. The average hospitalization time was 12.45 ± 5.28 and 36.27 ± 17.68 days in the septicemia and meningitis groups respectively. The main clinical manifestations in the septicemia group were fever (77.27%), poor feeding, reduced crying and movement (59.09%) and finally respiratory distress (27.27%), while fever (96.15%), poor feeding, reduced crying and movement (92.31%), bulging of anterior fontanel or seizure (50%), were noted in the meningitis group. A decrease in white blood cells (WBC) was observed in 45.83% of cases, an increase in 22.92% of cases, and the remaining 31.25% were in the normal range, occurrence of thrombocytopenia was lower than 10.42% and C-reactive protein increased significantly in both groups. However, the recovery time of C-reactive protein in the septicemia group was significantly shorter compared to the meningitis group (7.33+3.31 days, 14.96+9.55 days, P<0.01). Cerebrospinal fluid manifestations: When cranial MRI of cerebrally injured and normal patients were compared, a significant difference was noted in their respective CSF cell count (3964+4279/ul, 1745+2396/uL, P<0.05), sugar level (0.94+0.9 mmol/L, 1.80+0.999 mmol/L, P<0.01), protein content (5366.0+1486.8 mg/L, 1591.6+860.2 mg/L, P<0.01) and positive bacterial smear (60%, 7%, P<0.01). Drug sensitivity: 52 cases of GBs were 100% sensitive to ampicillin, penicillin, vancomycin, linezolid and tigecycline. All patients were resistant to clindamycin, 84.61% to tetracycline and 23.08% to levofloxacin or ciprofloxacin.

Discussion: In the septicemia group, 68.2% (15/22) a combination of penicillin or ampicillin + cephalosporin was chosen, while in the meningitis group, 73.1% (19/26) of children were given a combination of either (a) penicillin or ampicillin + ceftriaxone or cefotaxime palate, or (b) vancomycin, meropenem. Patients who had a slow CSF recovery or recurrent fever two weeks post initial antibiotic treatment were given vancomycin or linezolid or rifampicin in addition to their baseline treatment. Two patients in the local infection group did not use systemic antibiotics, and two patients chose a mono-antibiotic therapy. 8. Complications and prognosis: All patients in the septicemia group recovered and met discharge criteria, 4/22 had shock, 4/22 had respiratory distress syndrome, 1/22 had toxic enteroparalysis as complication (s). In the meningitis group, 92.3% (24/26) of the patients were discharged from hospital with normal or improved cerebrospinal fluid results (31.38 (+19.82 days), 1 child was discharged without recovery and 1 child unfortunately died; 10/26 of them had extensive brain injury, 6/26 had subdural effusion, 4/26 had shock, 3/26 had liver injury, and 2/26 had cerebral hernia.

Conclusion: Neonatal and infant GBS infections can cause sepsis, meningitis, respiratory distress syndrome, urinary tract infections, skin and umbilical infections, which progress rapidly and hence, need urgent medical intervention. Among all, the treatment of group B streptococcal suppurative meningitis is particularly challenging, thereby leading to a longer period of hospitalization and the risk of serious neurological complications is high. The authors believe that attention should be paid to the screening of group B Streptococcus (GBs) during pregnancy and also during nursing of the skin, umbilical cord and oral cavity of new-borns for early prevention of the infection.

Thromboembolism in patients with nephrotic syndrome is a well-known complication because of a hypercoagulable state. It is rather rare that cerebral venous sinus thrombosis is reported as a complication in nephrotic syndrome, which could have potentially fatal consequences. There is a sub-diagnosis of this disease due to non-specific signs, and symptoms that may be like headache, vomiting, drowsiness, and altered behavior. Considering this, sinus vein thrombosis should always be considered in children with nephrotic syndrome, early clinical suspicion, and early detection, and management with anticoagulants result in satisfying outcomes. Here, we describe the case of a male child, two years and six months year-old, in the background; the child suffers from nephrotic syndrome and has been treated with steroids for four months. He was admitted with weakness, drowsiness, and refusing to eat, after full investigation was done, he was diagnosed with sinus vein thrombosis.

Kaposi’s sarcoma (KS) is the most prevalent malignancy in patients with HIV infection. few reports describe KS in HIV-negative, non-immune compromised patients in the United States, but the incidence of the disease in the area of middle east in non-HIV, Immunocompetent is not well recognized. It affects the endothelial cells of the skin and mucous membranes. The cases seen in HIV-negative men were less aggressive and rapidly progressing than those in people with HIV. However, although, they tended to be more malicious than in the classical type of KS which is seen mostly in men of Mediterranean origin and occurred at an earlier age. We are presenting a rare case of Mucocutaneous KS diagnosed based on histopathology in an 82-year-old Yemeni male patient, who is seronegative HIV, non-immunocompromised with no history of organ nor bone marrow transplantation.

Tetanus is a life-threatening disease caused by the anaerobic spore-forming bacterium, Clostridium tetani, which produces a potent neurotoxin responsible for symptoms upon entering a susceptible host. Herein, we present a 5-day-old male neonate, delivered by spontaneous vaginal delivery who presented with a three-day history of provoked episodes of spasms associated with refusal to breastfeed and excessive crying. He was born to an 18-year old first-time mother who did not receive tetanus toxoid containing vaccines (TTCV) during her antenatal care visits. He had active spasms and his oxygen saturation was at 98% on 1 litre of oxygen/min via nasal prongs. The umbilical cord stump had purulent discharge. He was admitted to intensive care unit, initiated on phenobarbital, metronidazole and continued oxygen therapy. He didn’t receive TTCV, tetanus immunoglobulin and eventually expired on day 7 of life. Maternal TTCV immunization, skilled birth attendance and proper umbilical stump care are key in the prevention of neonatal tetanus.

HIV-Associated Dementia has since the 1980’s been identified as a part of the AIDS complex. While it was once a common finding in AIDS patients, it has been infrequently diagnosed in developed nations since the introduction of highly active anti-retroviral therapy (HAART). We present a case of a 28-year-old man with an 11-year history of poorly controlled HIV who was found to have HIV-Associated Dementia.

Large clinical trials have established the superiority of carotid endarterectomy for stroke prevention in patients with symptomatic critical carotid artery stenosis. Although postoperative complications are commonly ischemic, cerebral hyperperfusion syndrome represents a rare but potentially treatable diagnosis. Outcomes are contingent on early identification, prevention and management of precipitating factors. Herein, we report the case of a patient who presented with altered mentation, hemiparesis, aphasia and seizures, nine days after left carotid endarterectomy. The underlying pathophysiological mechanism, associated risk factors, screening, prevention and management of cerebral hyperperfusion syndrome are discussed.