Joubert syndrome a rare entity and role of radiology: A case report.

Introduction and importance: Joubert syndrome (JS) is defined by the characteristic set of cerebellum and midbrain abnormalities that communally result in the indicative "molar tooth sign" on the axial MRI report. The incidence of estimated to be from 1:80,000 to 1:100,000. Case presentation: Clinical features can be noticed shortly after birth that includes hypotonia episodic tachypnea and apnea that may be followed by developmental delays and speech apraxia. Polydactyly, cleft lip or palate, tongue abnormalities, hypotonia, encephalocele, meningocele, hydrocephalus, kidney problems, pituitary abnormality, and autistic-like behavior are the other deformities that can be seen with JS. Seizures may also occur. Motor disability and mental health range from mild to severe forms. Clinical discussion: Treatment for JS is symptomatic and supportive. The prognosis depends on cerebellar vermis development. Conclusion: JS can be missed if special attention were not given to radiological findings.

A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review.

Introduction: and importance: McKusick-Kaufman syndrome (MKS) is a rarely reported autosomal recessive syndrome characterized by hydrometrocolpos (HMC), polydactyly and various gastrointestinal and renal manifestations. Case presentation: We present a case of suspected MKS in a prenatal ultrasound with dilated lateral ventricles of the brain and HMC. Clinical discussion: Main differential diagnosis includes Bardet-Beidel syndrome (BBS) which can present with HMC and polydactyly but retinal manifestations are a differentiating feature from MKS. Conclusion: Both of the disease syndromes are diagnosed clinically after birth.Keywords: McKusick Syndrome, Bardet-beidel syndrome, hydrometrocolpos, case report.

Depression and anxiety among Pakistani healthcare workers amid COVID-19 pandemic: A qualitative study.

Objectives: The sudden COVID-19 crisis required a determined effort on the part of the healthcare workers (HCWs) and excessive workload increased the risk of depressive and anxious symptoms in frontliners. The aim of the study was to assess anxiety and depression levels among HCWs during times of pandemic and its potential aggravating factors. Materials and methods: A web-based survey was conducted to assess the mental health outcomes of healthcare workers and related factors during the COVID-19 pandemic. For assessing depression and anxiety, the Hospital Anxiety and Depression Scale (HADS) comprised of 14 items with seven items for depression and seven for anxiety were used. Results: Of all 436 participants, 158 (36.2%) showed noticeable symptoms of depression and 220 (50.4%) showed substantial anxiety symptoms. The majority of them were females. It has been observed in the study that female gender, young, and unmarried marital status are associated with higher scores. HCWs working in urban regions show more depressive symptoms. Mild depression and anxiety ratio are very common among participants (21.3%). Factors found to be associated with higher anxiety and depression are the increased number of deceased patients with lower family support. Conclusions: Altogether, the present study findings present concerns about the psychological well-being of all HCWs during the acute COVID-19 outbreak. Therefore, steps should be taken to protect them from mental exhaustion, so they may fight with more zeal against the infectious pandemic that has caused significant impacts worldwide.

Large lumbosacral schwannoma in a young female- a case report from Afghanistan.

INTRODUCTION: Mobile Schwannoma is a rare soft tissue tumor that commonly involves the elderly population. It has no cellular material and grows as solitary, firm, oval, encapsulated benign tumors from the sensory (dorsal) nerve root. If multiple, they are usually associated with Neurofibromatosis type 2 (NF-2). The initial sign and symptoms include segmental pain and paresthesia. It may lead to myelopathy if the tumor expands. CASE PRESENTATION: We present a twenty-year-old female with chronic lower backache radiating to the ipsilateral thigh with no urinary or fecal incontinence. On physical examination, the ankle reflex was hypoactive on the left side, and the straight leg raise test was positive. A large 32 × 15 × 14 mm heterogeneous enhancing focal lesion was found on the posterior side of L5 and S1 vertebrae with severe central canal stenosis. A diagnosis of nerve sheath tumor was made based on contrast MRI pre-operatively. The underlying cause was a nerve sheath tumor. A total bilateral laminectomy at the L1-S5 level and mass excision was performed, preserving nerve roots. The postoperative period was uneventful, and no tumor re-growth was noticed. CLINICAL DISCUSSION: Schwannoma is a slow-growing tumor; benign; usually, less than 8 cm in diameter tumor, commonly found in the head and neck region. It is the 3rd most common soft tissue tumor and the 2nd most common intradural extramedullary tumor. In our report, a young, non-Caucasian female patient is diagnosed with schwannoma, which is quite rare. In our case, a larger tumor of size 32 × 15 × 14 mm was noted, affecting the posterior body of L5 and S1 vertebrae in the left lateral recess with impingement of the left S1 traversing nerve root. Around 29% of spinal root nerve tumors are schwannomas. As the tumor grows slowly, the diagnosis may be delayed. CONCLUSION: Schwannoma is a slow-growing solitary, firm, oval, encapsulated benign tumor arising from the sensory (dorsal) nerve root. Histopathology plays a vital role in diagnosis, and overall, the disease has a favorable prognosis. Therefore, an appropriate approach is necessary to rule out the disease.

Mixed epithelial and stromal tumor (MEST) in a young adult male: A case report and literature review.

INTRODUCTION AND IMPORTANCE: A MEST is a rare renal tumor, with stromal as well as epithelial components. It is predominantly benign and local recurrence is not very common. In the majority of the cases, it occurs in females. Its occurrence in a young male makes it a rarity. CASE PRESENTATION: A 24 years old male presented at SIUT with the complaint of left flank pain on and off for one month. CT scan showed soft tissue density mass in left renal pelvis extending from mid-pole calyces to pelviuretric junction, leading to obstruction and ultimately mild uropathy. We found a partially obstructing staghorn calculus with asymmetrical cortical thinning. Left Robot-Assisted Nephro-ureterectomy plus excision of bladder cuff was planned in which 3 × 4 cm mass involving the left renal pelvis was excised. To date, there is no radiologic evidence of disease recurrence. CLINICAL DISCUSSION: MEST in young adults is an extremely rare tumor. They have been referred to by many alternate synonyms including 'adult mesoblastic nephroma' and 'cystic nephroma' with 'ovarian' or 'cellular' type stroma. Majority of patients with MEST present, with hematuria, abdominal pain, palpable flank mass, recurrent urinary tract infections. Similarly, our patient presented initially with nonspecific pain in the left flank region. Majority of cases in the literature presented with the tumor in benign stage, with localized spread, and without recurrence. CONCLUSION: Mixed epithelial and stromal tumors (MEST) of the kidney are distinct entities of benign kidney tumors. MEST in young males is a very rare entity, and a small number of cases exist. Histopathology plays a very cardinal role in diagnosis, and overall the disease has a promising outcome with conservative surgery.

Pulmonary arterial hypertension post COVID-19: A sequala of SARS-CoV-2 infection?

It has been suggested that pulmonary arterial hypertension (PAH) could be a potential sequela of coronavirus disease 2019 (COVID-19) in particular in those with hypertension; however, development of PAH after the course of COVID-19 in normotensive individuals are rarely reported. Here, we report a patient who developed PAH two months post-COVID-19. The patient was a 55-year-old female and normotensive, tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), developed mild respiratory distress syndrome and necessitated continuous positive airway pressure during the treatment in the hospital. After two months discharged from the hospital with RT-PCR negative for SARS-CoV-2, the patient presented with exertional dyspnea, dry cough, fatigue and episodes of syncope during exertion. Based on clinical presentation, electrocardiography, computed tomography, and transthoracic echocardiography assessment, PAH diagnosis was made. To our knowledge, this is a rare PAH case and this highlights the possible of PAH as sequala that might present in post COVID-19 patients.

Laurence-Moon-Bardet-Biedl Syndrome: A Case Report.

Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive defect, mostly occurs in children born from consanguineous marriages. The major features of this syndrome are cone-rod dystrophy, polydactyly, obesity, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, ataxia, and poor coordination/clumsiness. In this report, we present a case of a 19-year-old man with pain and swelling of the left ankle and knee joints because of which he could not walk, with an onset of loose stools since a week. He presented with multiple non-itchy hyperpigmented macules on his face and back, polydactyly in his left foot, central obesity, proteinuria, macrocytic anemia, low intelligence quotient, reduced power in the left lower limb, reduced plantar reflexes, nystagmus, pigmented black lesions in the temporal retina on fundoscopy, a micropenis, absent pubic and axillary hair, and a small scrotum containing testes. The patient was diagnosed with LMBBS.