Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome that causes systemic inflammation which can progress to multiorgan failure and death. Symptoms and signs commonly seen in HLH include high fever, hepatosplenomegaly, pancytopenia, and hypertriglyceridemia. This report describes the 8-month clinical course of a 17-year-old male with G6PD deficiency who presented with intermittent high fever of unknown origin for 8 months accompanied by pancytopenia and bilateral lower limb weakness. A pathogenic homozygous missense mutation (c.1081A > T p.(Arg361Trp)) in the PRF1 gene was detected by whole exome sequencing (WES). The brain and the whole spine MRI showed leptomeningeal enhancement at different levels involving both the brain and the spine. Therefore, a diagnosis of familial HLH type 2 with CNS involvement was confirmed. Accordingly, treatment with dexamethasone, cyclosporin, and etoposide in addition to intrathecal methotrexate and hydrocortisone was given. The patient showed a dramatic response with significant neurological improvement of the bilateral lower limb weakness. Genetic analysis has helped the patient’s family with appropriate genetic counselling. This case highlights the importance of immediate treatment with immunosuppressants and the high clinical suspicion of physicians regarding HLH in areas where consanguinity is common.

Spontaneous spinal epidural hematoma: a case report

Background Spinal epidural hematomas usually occur under certain conditions; they rarely occur spontaneously. The prevalence of spontaneous spinal epidural hematoma is ~ 0.1 per 100,000, and the male-to-female ratio is approximately 1.4 to 1. Herein, we describe a rare case of spontaneous spinal epidural hematoma. Case presentation A 63-year-old Taiwanese woman, with underlying hypertension, anemia, and a history of cardiovascular accident without sequela, was admitted to our emergency department with a chief complaint of sudden bilateral weakness in the lower limbs. Magnetic resonance imaging revealed a spontaneous epidural hematoma. The patient underwent emergency surgery to remove the epidural hematoma and laminectomy for decompression. The bilateral lower limb weakness was alleviated immediately after the surgery. Conclusion In patients with no risk factors related to spinal epidural hematoma, symptoms of bilateral lower limb weakness must be investigated carefully because this condition may occur spontaneously.

Invasive Rhino-Cerebral Mycormycosis

Mr. Rameshwaran, 51 years who admitted in a private hospital with left upper and lower limb weakness and slowing of speech. He is a known case of Diabetes Mellitus, Systemic Hypertension and CVA. He was an allergic to POSCONAZOLE. On the day of admission, he was conscious and oriented. His BP was 160/90mm of Hg. On examination, he was dehydrated, bilateral pedal edema and right side hemiparesis. Investigations reveals that increased serum urea and creatinine, GFR below 26ml/min, low serum sodium and potassium. MRI shows that large acute infarct. ENT opinion reveals that presence of fungal mass in orbit and secondary to vasculitis. He was treated by corticosteroids, diuretics and anti-platelet. He was advised for physiotherapy, speech therapy, restricted salt and fluids.

Acute longitudinal extensive transverse myelitis secondary to asymptomatic SARS-CoV-2 infection

A 35-year-old woman, 6 months post partum, presented with acute onset back pain at the T8 level progressing to bilateral lower limb weakness and sensory loss with urinary retention and constipation. This patient had a pre-existing inflammatory disease, having recently developed ulcerative colitis antenatally. Five days prior to admission, she had tested positive asymptomatically on a SARS-CoV-2 reverse-transcriptase PCR nasopharyngeal swab. The positive swab result was confirmed on admission. Clinical examination revealed bilaterally exaggerated knee reflexes, lower limb weakness and positive Babinski’s sign. Sensation was impaired at L4 and L5 dermatomes and absent at S1 and S2. MRI findings suggested longitudinal extensive transverse myelitis, with multiple regions of patchy hyperintensity seen in the thoracic region of the spinal cord both centrally and peripherally. She was started on a course of intravenous corticosteroids and improvement was seen both clinically and on repeat imaging. This case demonstrates a rare complication to an asymptomatic COVID-19 infection and explores the potential neurotropic properties of COVID-19.

Weight Loss-Based Nutraceuticals

Thyrotoxic periodic paralysis (TPP) is characterized by muscle weakness, areflexia, and hypokalemia in the setting of thyrotoxicosis. We present the case of a 32-year-old male with multiple presentations to the emergency department for lower limb weakness, tremors, diaphoresis, and tachycardia. His initial blood work revealed T3-toxicosis and hypokalemia, and he was treated for TPP with intravenous fluids and potassium supplementation. He had been ingesting weight loss supplements containing iodine, kelp, licorice, and likely undeclared thyroid hormones or mimics. Following discontinuation of supplements, all laboratory investigations normalized and thyrotoxicosis symptoms resolved. This case illustrates that ingestion of thyroid hormone-based nutraceuticals should be considered as a cause of thyrotoxicosis and TPP. RésuméLa paralysie périodique thyréotoxique (PPT) se caractérise par de la faiblesse musculaire, une aréflexie et une hypokaliémie dans le contexte de la thyréotoxicose. Nous exposons le cas d’un homme de 32 ans qui s’est présenté au service des urgences pour de multiples symptômes, soit une faiblesse des membres inférieurs, des tremblements, une diaphorèse et une tachycardie. Son bilan sanguin initial a révélé une toxicose-T3 et une hypokaliémie, et il a été traité contre la PPT par des solutés intraveineux et une recharge en potassium. Il ingérait des suppléments pour la perte de poids contenant de l’iode, de la laminaire, de la réglisse et probablement des hormones thyroïdiennes ou leurs analogues non déclarés. Après l’arrêt des suppléments, tous les examens de laboratoire sont revenus à la normale et les symptômes de thyréotoxicose ont disparu. Ce cas montre que l’ingestion de nutraceutiques à base d’hormones thyroïdiennes devrait être considérée comme une cause de la thyréotoxicose et de la PPT.

Rare Atypical Presentation of a Neuroblastoma of Posterior Mediastinum

Introduction Neuroblastoma is the third most common malignancy and one of the most common neurogenic tumors of posterior mediastinum in the pediatric age group. A posterior mediastinal tumor causing spinal cord compression is an important example of an oncologic emergency arising from a neurogenic tumor. We present a rare case of posterior mediastinum neuroblastoma, with exclusive lower limb weakness presenting at an unusually older age. Case Presentation A 6-year-old girl reported with upper back ache and sudden onset progressive bilateral lower limb weakness, with difficulty in urination for 10 days. The weakness had progressed to paraplegia on the day of presentation. On examination, the child was observed to have loss of tone and power in both lower limbs and bilateral extensor plantar reflex. Chest X-ray showed heterogeneous opacity involving most of the left lung. Contrast-enhanced MRI showed posterior mediastinal tumor, extending into spinal canal. Patient underwent D3 to D6 laminectomy with subtotal tumor excision and spinal decompression. Crush biopsy showed round cell tumor, and final histopathological examination revealed poorly differentiated neuroblastoma, which was strongly positive for neuron-specific enolase on immunohistochemistry. The surgery was followed by chemotherapy, and the patient remained symptom free on 2-year follow-up. Discussion The presenting symptoms in case of thoracic neuroblastoma may include airway obstruction and chronic cough. Sometimes, it may present with weakness, limping, paralysis, and bladder and bowel disturbances in case of spinal cord involvement. Posterior mediastinal neuroblastoma presenting with paraparesis is uncommon. In our case, the child presented with isolated lower limb flaccidity with no other classical symptoms. To the best of our knowledge and thorough study, only four cases of posterior mediastinum neuroblastoma presenting with lower limb paralysis has been published in the English literature to date. Conclusion Tumor usually presents with pressure symptoms, caused by the mass in the posterior mediastinum, but it’s almost exclusive occurrence in the pediatric population warrants a thorough investigation in patients presenting with not only a symptomatic mass but also exclusive lower limb neurological symptoms.

Orientia beyond fever and rash (Unusual presentations of scrub typhus)

Scrub typhus is a zoonotic disease caused by an obligate intracellular gram-negative bacterium of the family Rickettsiaceae called Orientia tsutsugamushi. We are reporting three cases: Case 1:- A 42 year old male, farmer who presented with fever, rash and pandigital gangrene. Case 2:- A 52 year old female positive for scrub typhus treated came with c/o bilateral lower limb weakness which gradually progressed to upper limb, diagnosed to be AIDP, Case 3:- A 32 year old male presented with fever, maculopapular rash and leukocytoclastic vasculitis in first week of illness proved by biopsy. All three cases were positive for OXK (Weil Felix). Scrub typhus can present with unusual clinical features and complication during the course of illness and cases are reported for its varied presentations.

IgG4-Related Inflammatory Pseudotumor Involving the Clivus: A Case Report and Literature Review

IgG4-related inflammatory pseudotumors are very uncommon and are characterized histologically by the presence of inflammatory swellings with increasing IgG4-positive plasma cells and lymphocytes infiltrating the tissues. As reports of intracranial IgG4-related pseudotumors are very rare, we report a case of an IgG4-related inflammatory pseudotumor involving the clivus mimicking meningioma. A 46-year-old male presented with intermittent headache for 2 years and a sudden onset of dysphagia and dysphonia of 7 days’ duration along with lower limb weakness. Enhanced magnetic resonance imaging (MRI) of the skull base revealed an isointense signal on T1- and T2-weighted images from an enhanced mass located at the middle of the upper clivus region, for which a meningioma was highly suspected. Then, an endoscopic transsphenoidal approach was adopted and the lesion was partially resected, as the subdural extra-axial lesion was found to be very tough and firm, exhibiting fibrous scarring attaching to the brain stem and basal artery. After the surgery, brain stem and posterior cranial nerve decompression was achieved, and the patient’s symptoms, such as dysphagia, dysphonia and lower limb weakness, improved. Pathological findings showed many IgG4-positive plasma cells and lymphocytes surrounded by collagen-rich fibers. The patient was sent to the rheumatology department for further glucocorticoids after the diagnosis of an IgG4-related inflammatory pseudotumor was made. This case highlights the importance of considering IgG4-related inflammatory pseudotumors as a differential diagnosis in patients with lesions involving the clivus presenting with a sudden onset of symptoms of dysphagia and dysphonia along with lower limb weakness when other more threatening causes have been excluded. IgG4-related inflammatory pseudotumors are etiologically enigmatic and unpredictable, and total resection might not be warranted. Glucocorticoids are usually the first line of treatment after diagnosis.