Functional Outcomes of Surgical Management for Spinal Epidural Masses in an Egyptian Tertiary Hospital.

BACKGROUND: The spinal epidural space, covering the dural sac, is located along the posterior longitudinal ligament anteriorly, the ligamentum flavum and the periosteum of laminae posteriorly, and the pedicles of the spinal column by the intervertebral foramina containing their neural elements laterally. It could be affected variably by different types of diseases, either as primary lesions or as an extension from a disease process in the nearby tissues and organs. AIM: We aimed to present clinically and surgically patients with spinal epidural masses operated in the Neurosurgery Department of Cairo University Hospitals, Cairo, Egypt, along a time interval of one year. METHODS: In this prospective cohort study, we analysed motor deficits, sensory deficits, and bowel and bladder dysfunction. We have performed decompressive laminectomy on 19 patients with spinal epidural masses together with mass excision as long as the tumour was accessible, with or without fixation. RESULTS: All patients were radiologically assessed by MRI over the affected side of the spine. D10 was the commonest site in our study to be affected in 10 cases of our participants (23%), followed by D5, D7, and D12 each of them was affected in 6 cases (14%), in another word spinal segments by order of frequency to be affected were dorsal followed by lumbar spine. All patients included in this study (100%) showed an obvious improvement as regard pain and tenderness. CONCLUSION: Surgical interventions have improved the quality of life for our patients with spinal epidural masses.

Hypoglossal Facial Nerve Anastomosis for Post-Operative and Post-Traumatic Complete Facial Nerve Paralysis.

AIM: This study aims to evaluate the outcome of patients with complete facial paralysis following surgery to cerebellopontine angle tumours or following traumatic petrous bone fractures after reanimation by hypoglossal-facial anastomosis as regards clinical improvement of facial asymmetry and facial muscle contractility as well as complications associated with hypoglossal-facial reanimation procedure. METHODS: This thesis included a prospective study to be carried out on 15 patients with unilateral complete lower motor neuron facial paralysis (11 patients after cerebellopontine angle tumour resection and 4 patients after traumatic transverse petrous bone fracture) operated upon by end to end hypoglossal-facial nerve anastomosis in Cairo university hospitals in the period between June 2015 and January 2017. RESULTS: At one year follow up the improvement of facial nerve functions were as follows: Three cases (20%) had improved to House Hrackmann grade II, eleven cases (73.33%) had improved to grade III, and one patient (6.66%) had improved to House Brackmann grade IV. CONCLUSION: Despite the various techniques in facial reanimation following facial nerve paralysis, the end to end hypoglossal-facial nerve anastomosis remains the gold standard procedure with satisfying results in cases of the viable distal facial stump and non-atrophic muscles. Early hypoglossal-facial anastomotic repair after acute facial nerve injury is associated with better long-term facial function outcomes and should be considered in the management algorithm.

Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.

Methylmalonic aciduria (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. It is an inborn error of organic acid metabolism which commonly results from a defect in the gene encoding the methylmalonyl-CoA mutase (MCM) apoenzyme. Here we report the results of mutation study of exon 2 of the methylmalonyl CoA mutase (MUT) gene, coding MCM residues from 1 to 128, in ten unrelated Egyptian families affected with methylmalonic aciduria. Patients were presented with a wide-anion gap metabolic acidosis. The diagnosis has established by the measurement of C3 (propionylcarnitine) and C3:C2 (propionylcarnitine/acetylcarnitine) in blood by using liquid chromatography-tandem mass spectrometry (LC/MS-MS) and was confirmed by the detection of an abnormally elevated level of methylmalonic acid in urine by using gas chromatography-mass spectrometry (GC/MS) and isocratic cation exchange high-performance liquid-chromatography (HPLC). Direct sequencing of gDNA of the MUT gene exon 2 has revealed a total of 26 allelic variants: ten of which were intronic, eight were located upstream to the exon 2 coding region, four were novel modifications predicted to affect the splicing region, three were novel mutations within the coding region: c.15G > A (p.K5K), c.165C > A (p.N55K) and c.7del (p.R3EfsX14), as well as the previously reported mutation c.323G > A (p.R108H).