scholarly journals Familial Hemophagocytic Lymphohistiocytosis Secondary to PRF1 Mutation

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Albaraa T. Alfaraidi ◽  
Abdulaziz A. Alqarni ◽  
Mohammed T. Aqeel ◽  
Turki A. Albalawi ◽  
Ahmed S. Hejazi
Keyword(s):  
Lower Limb ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Multiorgan Failure ◽  
Unknown Origin ◽  
High Fever ◽  
Intrathecal Methotrexate ◽  
Limb Weakness ◽  
Lower Limb Weakness ◽  
Bilateral Lower Limb ◽  
The Brain

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.

scholarly journals Bilateral lower limb weakness: a cerebrovascular consequence of covid-19 or a complication associated with it?

2020 ◽  
Vol 15 (5) ◽  
pp. 901-905 ◽  
Author(s):  
J. B. Morjaria ◽  
F. Omar ◽  
R. Polosa ◽  
G. Gulli ◽  
P. U. Dalal ◽  
...  
Keyword(s):  
Lower Limb ◽  
Limb Weakness ◽  
Lower Limb Weakness ◽  
Bilateral Lower Limb

THUR 007 A garden variety neuropathy

2018 ◽  
Vol 89 (10) ◽  
pp. A2.2-A2
Author(s):  
Salini Sumangala ◽  
Ben Simpson ◽  
Jithin George
Keyword(s):  
Lower Limb ◽  
Northern Europe ◽  
Suspected Case ◽  
Structural Imaging ◽  
Facial Weakness ◽  
Rapid Improvement ◽  
Limb Weakness ◽  
Lower Limb Weakness ◽  
Uncertain Significance ◽  
The Brain

A 47 year old with subacute onset of walking difficulties, asymmetric lower limb and facial weakness and areflexia was admitted as a suspected case of Guillain-Barre syndrome. Clinical examination revealed left lower motor neuron facial weakness, right upper limb and lower limb weakness and a suspended area of pain and allodynia at T7. Structural imaging of the brain and spine was normal. CSF protein was elevated with pleocytosis. Nerve conduction studies was suggestive of proximal demyelinating polyradicular neuropathy. The clinical suspicion of neuroborreliosis was confirmed in CSF with Borrelia VlsE antigen positivity and serum Borrelia Burgdorferi IgG EIA positivity. The patient had no recollection of tick exposure but did recall a presumed horsefly bite on the forearm two weeks earlier of uncertain significance. This is a case of Bannwarth syndrome - meningoradiculoneuritis due to neuroborreliosis endemic in Northern Europe. Our patient was treated with Ceftriaxone with rapid improvement of symptoms. This case highlights the importance of careful history taking including ascertainment of travel to Borrelia endemic areas and recognition of this eminently treatable meningoradiculoneuropathy.

scholarly journals Bilateral lower limb weakness in acute severe ulcerative colitis

The Lancet ◽  
2016 ◽  
Vol 388 (10039) ◽  
pp. 101-102 ◽  
Author(s):  
Ruairi W Lynch ◽  
Timothy Soane ◽  
Rod Gibson ◽  
Suvankar Pal ◽  
Charlie W Lees
Keyword(s):  
Ulcerative Colitis ◽  
Lower Limb ◽  
Limb Weakness ◽  
Severe Ulcerative Colitis ◽  
Lower Limb Weakness ◽  
Bilateral Lower Limb

scholarly journals Primary spinal peripheral primitive neuroectodermal tumor with acute presentation: A case report and review of literature

2019 ◽  
Vol 10 (3) ◽  
pp. 59-61
Author(s):  
Abta Bachchan ◽  
Kaushik Roy ◽  
Suniti Kumar Saha ◽  
Debajyoti Pathak ◽  
Partha Ghosh ◽  
...  
Keyword(s):  
Lower Limb ◽  
Bowel Dysfunction ◽  
Review Of Literature ◽  
Peripheral Primitive Neuroectodermal Tumor ◽  
Thoracic Region ◽  
Radiological Findings ◽  
Limb Weakness ◽  
Lower Limb Weakness ◽  
Neuroectodermal Tumors ◽  
Bilateral Lower Limb

Primary spinal primitive neuroectodermal tumors (PNET) is a rare occurrence and carries a poor prognosis. A 13-year old female patient acutely presented with pain in the thoracic region, bilateral lower limb weakness, bladder and bowel dysfunction. Clinically paraplegia with truncal weakness, lower limb deep tendon reflexes of both side were absent and planter reflexes equivocal bilaterally. Preoperative MRI of thoracic spine revealed D4-D6 extradural SOL. A D4-D5 Laminectomy and left Cortico transversectomy done. Pathological findings were consistent with PNET. The clinical, histopathological, and radiological findings of the patient are presented.

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

2021 ◽  
Vol 12 ◽  
Author(s):  
Xiaohai Liu ◽  
Renzhi Wang ◽  
Mingchu Li ◽  
Ge Chen
Keyword(s):  
Brain Stem ◽  
Lower Limb ◽  
Inflammatory Pseudotumor ◽  
Plasma Cells ◽  
Sudden Onset ◽  
Limb Weakness ◽  
Lower Limb Weakness ◽  
Inflammatory Pseudotumors ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain

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.

scholarly journals Spontaneous spinal epidural hematoma: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Ooi Chin Sheng ◽  
Ren-Chieh Wu ◽  
I-Hsin Chang
Keyword(s):  
Lower Limb ◽  
Epidural Hematoma ◽  
Lower Limbs ◽  
Spinal Epidural Hematoma ◽  
Limb Weakness ◽  
Female Ratio ◽  
Spontaneous Spinal Epidural Hematoma ◽  
Lower Limb Weakness ◽  
Bilateral Lower Limb ◽  
Spinal Epidural

Abstract 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.

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