scholarly journals Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

2021 ◽  
Author(s):  
Ramona Cordani ◽  
Livia Pisciotta ◽  
Maria Margherita Mancardi ◽  
Michela Stagnaro ◽  
Giulia Prato ◽  
...  

AbstractAlternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  

2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  

PM&R ◽  
2018 ◽  
Vol 10 ◽  
pp. S88-S88
Author(s):  
Abana F. Azariah ◽  
Haresh Sampathkumar ◽  
Bonny S. Wong ◽  
Katherine O'Brien ◽  
Sheng Li ◽  
...  

2021 ◽  
pp. 48
Author(s):  
Majd Alrayes

Introduction: Intervertebral disc prolapse is a very common abnormality found in the population, that can manifest in a variety of complaints like back pain, radiculopathy, and even to the extent that it might lead to more adverse neurological deficits. Symptoms improve in majority of patients only with conservative treatment. However, some patients may require surgical intervention. In some cases, spontaneous regression of herniated disc can be seen. Thus, the interest in the phenomenon of spontaneous resorption of the herniated discs has increased, which raised the controversy regarding managing such patients. Here, we report a case of a huge lumbosacral spontaneous disc resolution at the level of L5-S1 in which clinical improvement was associated with a significant decrease in the size of a huge, herniated disc. In addition, we performed a comprehensive review of literature of all reported cases of spontaneous disc resolution to provide an updated discussion of such an underlooked phenomena. Case Report: A 53-year-old female not known to have any medical illness presented at the Neurosurgery Clinic with complaints of chronic back pain for six years which was progressing and radiating to both of her lower extremities (right more than left) and had become more intense in the last year. It was slightly relieved by simple analgesics and aggravated by sitting or lying down. There was no history of trauma, weaknesses, or sphincteric disturbances. Upon evaluation in our clinic, local exam revealed lower back midline tenderness at the level of L5-S1 vertebrae. No tenderness was observed in the paravertebral area or facets. Straight leg raising test was positive at 70º in the right side and 90º in the left, normal power, intact sensation, normal tone, and reflexes. Negative Babinski and clonus was noted in both limbs. MRI lumbar spine showed significant right paracentral L5-S1 disk prolapse indenting the thecal sac compressing the root. A full-course and effective medical treatment was initiated as the patient was never treated properly before for her back pain, along with physical therapy and regular OPD follow-ups. A follow-up MRI a year later revealed significant reduction in the size of the disk prolapse as compared to the initial imaging study. Overall, patient’s symptoms significantly improved, and she was kept on conservative management. Conclusion: To conclude, the case presented here shows the efficacy and validity of conservative management for patients who are diagnosed with a herniated disc in the absence of neurological deficits. This shows the importance of not pushing surgical treatment for patient with lumbar disc herniation without neurological deficits, each patient should receive a trial of conservative therapy and close OPD follow-ups and repeated MRI scans for further assessment of any advancement or improvement, because herniated discs can regress spontaneously. Radiological changes alone should not be the main target for assessing improvement, what matters more is clinical and symptomatic improvement. Surgical management remains an important therapeutic option for patients who failed conservative management and patients who have severe neurological deficits.


2018 ◽  
Vol 37 (03) ◽  
pp. 263-266
Author(s):  
Lucas Meguins ◽  
Linoel Valsechi ◽  
Ronaldo Fernandes ◽  
Dionei Morais ◽  
Antonio Spotti

Introduction Pericallosal artery (PA) aneurysms represent 2 to 9% of all intracranial aneurysms, and their management remains difficult. Objective The aim of the present study is to describe the case of an adult woman with subarachnoid hemorrhage and bilateral PA aneurysm in mirror position. Case Report A 46-year-old woman was referred to our institution 20 days after a sudden severe headache. She informed that she was treating her arterial hypertension irregularly, and consumed ∼ 20 cigarettes/day. The patient was neurologically intact at admission. A non-contrast computed tomography (CT) on the first day of the onset of the symptoms revealed hydrocephaly and subarachnoid hemorrhage (Fisher III). An angio-CT/digital subtraction arteriography showed bilateral PA aneurysms in mirror position. The patient was successfully treated with surgery via the right interhemispheric approach (because the surgeon is right-handed); the surgeon performed the proximal control with temporary clipping, and introduced an external ventricular drain at the end of the surgery. The patient was discharged on the fourth postoperative day without any additional neurological deficits or ventricular shunts. Conclusion Ruptured PA aneurysm is a surgically challenging aneurysm due to the many anatomical nuances and risk of rebleeding. However, the operative management of ruptured bilateral PA aneurysms is feasible and effective.


2018 ◽  
Vol 37 (02) ◽  
pp. 131-133 ◽  
Author(s):  
Luana Gatto ◽  
Rodrigo Brisson ◽  
Zeferino Demartini ◽  
Gelson Koppe ◽  
Carlos Rocha

AbstractProliferative angiopathy (PA) is a rare cerebral vascular disease in which anomalous vessels continually recruit additional feeder arteries, amid a functional brain parenchyma. We report the case of a young woman with progressive history of headache, motor deficit, seizures and drowsiness. She received a misdiagnosis of brain arteriovenous malformation (AVM) and evolved with dysarthria and cognitive decline after an unsuccessful embolization performed at another institution. We opted for conservative treatment with periodic control by imaging tests. Proliferative angiopathy differs in natural history, prognosis, histopathology and treatment of the usual AVMs. Endovascular procedures aggravate the neurological deficits, which are usually progressive and tend to worsen over time.


2018 ◽  
Vol 37 (04) ◽  
pp. 343-348
Author(s):  
Lucas Meguins ◽  
Antônio Spotti ◽  
Jean de Oliveira ◽  
Carlos Pereira ◽  
Ronaldo Fernandes ◽  
...  

Introduction Aneurysms of the posterior cerebral artery (PCA) represent ∼ 1% of all intracranial aneurysms and usually present with subarachnoid hemorrhage. Objective The aim of the present study is to describe the case of an adult man presenting a saccular aneurysm of the right PCA at the posterior half of the postcommunicating (P2P) segment, and to discuss the technical nuances of the approach and of the clipping process. Case Report An investigation of a chronic headache in a 55-year-old man found a saccular aneurysm located just posterior to the most lateral portion of the right cerebral peduncle. A digital subtraction arteriography revealed a 7.8 mm × 5.6 mm × 4.8 mm posterior-medial projecting aneurysm of the right PCA at the P2P segment. A subtemporal approach was performed with partial aspiration of the right parahippocampal gyrus for a better exposure of the vascular structures. A proximal temporary occlusion of the PCA was performed at the anterior half of the postcommunicating P2A segment. The aneurysm was clipped with two semi-curved clips. The patient presented an uneventful recovery and was discharged from the hospital on the third postoperative day without any additional neurological deficits. Conclusion Aneurysms of the PCA are an uncommon vascular disease that challenges the ability of the neurosurgeons due to their many anatomical nuances, to their vast number of perforators, and to the risk of bleeding. However, the operative management of aneurysms of the PCA is technically feasible, safe and effective when performed respecting microsurgical principles.


2021 ◽  
Vol 8 (1) ◽  
pp. 27-29
Author(s):  
Rupak Chatterjee ◽  
Prantiki Halder ◽  
Sudeshna Mallik ◽  
Bibhuti Saha

Forbes Albright syndrome is a hyperprolactinemia syndrome characterised by galactorrhea and amenorrhea associated with a pituitary tumour. Here we report a case of 30 years female who was admitted with menstrual irregularities for 4 months, galatorrhea and headache with recurrent episodes of loss of consciousness for 3months. Her serum prolactin level was highly raised. MRI brain (plain plus contrast) showed enlarged pituitary gland- pituitary macroadenoma. She was diagnosed as a case of Forbes Albright Syndrome and was treated with Tablet Cabergoline. With the medication, size of her tumour markedly reduced and symptoms resolved as she was followed up after 3 months.


Introduction: Visual field loss is often the first sign of lesion of the anterior or posterior visual pathways. Screening for visual field defects should be a part of all routine eye examinations, mainly when neurological lesions are suspected. A confrontation visual field (CVF) test provide a rapid and practical method of visual field assessment, allowing the recognition of major neurological deficits. Materials and Research Methods: To report a case of posterior cerebral artery (PCA) stroke early suspected by CVF test. Case-Report: A 77 year-old male presented to our emergency department with vision blurring complaints and a strange sensation of a vision loss on one side on the left eye (OS), for the previous 15 days. He explained that symptoms initiated after an episode of dizziness followed by lipothymia. He denied diplopia or headaches. Past history revealed hypertension and diabetes as cardiovascular risk factors. The best corrected visual acuity was 20/25 on right eye (OD) and 20/60 on OS and pupillary reflexes were normal. CVF test was performed and showed a decrease on left hemicampus of OS. The biomicroscopy was normal and the fundus examination showed optic nerve edema bilaterally, also documented by Optical Coherence Tomography. Considering the findings and the history, neuroimaging and a neurological observation were requested. Computerized axial tomography revealed a hypodense lesion in right occipital posterior region, with hematic density. He was hospitalized for proper treatment with the diagnosis of posterior cerebral artery ischemic stroke, with further hemorrhagic transformation. Discussion: In acute stroke, visual disorders may form all or part of the initial presentation. Homonymous visual field deficits are well-known almost universal characteristics of PCA ischemia, however, due to the absent of cognitive impairment or speech problems associated to many cases, the diagnosis can be challenging at early stages. Our case-report highlights the importance of using CVF test to an immediate inspection of the peripheral visual field, in order to detect acute major defects, including homonymous deficits, to understand if a further prompt neurological examination is mandatory.


2008 ◽  
Vol 47 (169) ◽  
Author(s):  
Arnab Ghosh ◽  
S Pradhan ◽  
R Swami ◽  
S R KC ◽  
O P Talwar

Here we describe a case of Reye syndrome diagnosed at postmortem liver biopsy of a three-year oldgirl who presented with vomiting, low grade fever for three days and loss of consciousness for 18hours. Clinically, the differential diagnoses were meningitis, encephalitis and septicemia. No historyof past illness or any drug ingestion including aspirin were present. Laboratory investigationsindicated a diagnosis of Reye syndrome. The child was given supportive treatment but died aftertwo days of admission and postmortem needle-biopsy of the liver showed microvesicular steatosisconsistent with Reye syndrome.Key words: Microvesicular steatosis, mitochondrial hepatopathy, Reye syndrome, Reye-like syndrome


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