Brain MRI findings in an infant with congenital biotinidase deficiency

Myeloproliferative disorders (MPD) are accompanied by a high proportion of thrombotic complications, which may lead to cerebrovascular disease (CVD). Aim. To describe MRI-findings in patients with Ph - negative MPD and evaluate any cerebrovascular disease. Materials and methods. We included 104 patients with Ph - negative MPD (age varied between 20 and 58) with clinical correlates of cerebrovascular pathology. Results. Brain MRI showed post - stroke lesions in 20% of patients (7 hemispheric infarcts due to thrombotic occlusion of one of the large cerebral arteries, 14 - cortical infarcts). 37 patients (36%) had vascular cerebral lesions. Cerebral venous sinus thrombosis occurred in 5 patients - in 7% (n=3) of patients with polycythemia vera and 5% (n=2) - in patients with essential thrombocythemia. The incidence of vascular cerebral lesions was associated with higher levels of the following: erythrocyte, platelet count, fibrinogen, and with the decrease in fibrinolytic activity, as well. Conclusion. The pioneering results of the study include the description and analysis of brain MRI-findings in patients with Ph - negative MPD. The underlying mechanisms of cerebrovascular pathology in these patients are associated with certain blood alterations (particularly, hemorheology) which present a major risk factor.

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Comparisons of clinical characteristics, brain MRI findings, and responses to epidural blood patch between spontaneous intracranial hypotension and post-dural puncture headache: retrospective study

BMC Neurology ◽

10.1186/s12883-021-02279-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Gha-Hyun Lee ◽

Jiyoung Kim ◽

Hyun-Woo Kim ◽

Jae Wook Cho

Keyword(s):

Intracranial Hypotension ◽

Dural Puncture ◽

Epidural Blood Patch ◽

Brain Mri ◽

Spontaneous Intracranial Hypotension ◽

Vein Of Galen ◽

Mri Findings ◽

Post Dural Puncture Headache ◽

Straight Sinus ◽

Blood Patch

Abstract Background Spontaneous intracranial hypotension and post-dural puncture headache are both caused by a loss of cerebrospinal fluid but present with different pathogeneses. We compared these two conditions concerning their clinical characteristics, brain imaging findings, and responses to epidural blood patch treatment. Methods We retrospectively reviewed the records of patients with intracranial hypotension admitted to the Neurology ward of the Pusan National University Hospital between January 1, 2011, and December 31, 2019, and collected information regarding age, sex, disease duration, hospital course, headache intensity, time to the appearance of a headache after sitting, associated phenomena (nausea, vomiting, auditory symptoms, dizziness), number of epidural blood patch treatments, and prognosis. The brain MRI signs of intracranial hypotension were recorded, including three qualitative signs (diffuse pachymeningeal enhancement, venous distention of the lateral sinus, subdural fluid collection), and six quantitative signs (pituitary height, suprasellar cistern, prepontine cistern, mamillopontine distance, the midbrain-pons angle, and the angle between the vein of Galen and the straight sinus). Results A total of 105 patients (61 spontaneous intracranial hypotension patients and 44 post-dural puncture headache patients) who met the inclusion criteria were reviewed. More patients with spontaneous intracranial hypotension required epidural blood patch treatment than those with post-dural puncture headache (70.5% (43/61) vs. 45.5% (20/44); p = 0.01) and the spontaneous intracranial hypotension group included a higher proportion of patients who underwent epidural blood patch treatment more than once (37.7% (23/61) vs. 13.6% (6/44); p = 0.007). Brain MRI showed signs of intracranial hypotension in both groups, although the angle between the vein of Galen and the straight sinus was greater in the post-dural puncture headache group (median [95% Confidence Interval]: 85° [68°-79°] vs. 74° [76°-96°], p = 0.02). Conclusions Patients with spontaneous intracranial hypotension received more epidural blood patch treatments and more often needed multiple epidural blood patch treatments. Although both groups showed similar brain MRI findings, the angle between the vein of Galen and the straight sinus differed significantly between the groups.

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Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

International Journal of Molecular Sciences ◽

10.3390/ijms22084202 ◽

2021 ◽

Vol 22 (8) ◽

pp. 4202

Author(s):

Carlotta Spagnoli ◽

Carlo Fusco ◽

Antonio Percesepe ◽

Vincenzo Leuzzi ◽

Francesco Pisani

Keyword(s):

Movement Disorders ◽

Time Course ◽

Neonatal Period ◽

Age Of Onset ◽

Brain Mri ◽

Neonatal Seizure ◽

Mri Findings ◽

Epileptic Encephalopathies ◽

Pathogenic Variants ◽

Neonatal Onset

Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal period compared to infancy. We reviewed the medical literature in the study period 2000–2020 to report on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and described their electroclinical, genetic and neuroimaging spectra. In accordance with a PRISMA statement, we created a data collection sheet and a protocol specifying inclusion and exclusion criteria. A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic and myoclonic, but also focal motor seizures and a hyperkinetic MD in 89% of conditions, with neonatal onset in 22%, were identified. Neonatal seizure semiology, or MD age of onset, were not always available. The rate of hypokinetic MD was low, and was described from the neonatal period only, with WW domain containing oxidoreductase (WWOX) pathogenic variants. The outcome is characterized by high rates of associated neurodevelopmental disorders and microcephaly. Brain MRI findings are either normal or nonspecific in most conditions, but serial imaging can be necessary in order to detect progressive abnormalities. We found high genetic heterogeneity and low numbers of described patients. Neurological phenotypes are complex, reflecting the involvement of genes necessary for early brain development. Future studies should focus on accurate neonatal epileptic phenotyping, and detailed description of semiology and time-course, of the associated MD, especially for the rarest conditions.

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Delayed post-hypoxic leukoencephalopathy: Case report

European Psychiatry ◽

10.1016/j.eurpsy.2017.01.1654 ◽

2017 ◽

Vol 41 (S1) ◽

pp. s839-s839 ◽

Cited By ~ 1

Author(s):

M. Solerdelcoll Arimany ◽

M. Garriga ◽

E. Parellada

Keyword(s):

Neuropsychiatric Symptoms ◽

Brain Mri ◽

Clinical History ◽

Good Prognosis ◽

Mri Findings ◽

The Mean ◽

Competing Interest ◽

Weighted Sequences ◽

Direct Toxicity ◽

Progressive Cognitive Impairment

IntroductionDelayed post-hypoxic leukoencephalopathy (DPHL) is an underrecognized syndrome of delayed demyelination, where patients manifest neuropsychiatric symptoms after a period of 2–40 days of apparent recovery from a cerebral hypo-oxygenation episode.ObjectivesWe report a case of a patient who successfully recovered from an overdose of heroin, but then suffered a delayed abrupt neurological deterioration.AimsTo improve assessment and recognition of DPHL.MethodsAn adequate retrospective collection of clinical data and nonsystematic review of the literature was performed.ResultsA 43-year-old male with schizoaffective disorder who attempted suicide with an overdose of heroin, was successfully revived and return to his previously mental status, but 3 weeks after, he abruptly developed progressive cognitive impairment with akinetic mutism and ataxia. He was admitted to our acute psychiatric unit after brain CT and chemistry analyses were unremarkable. Brain MRI showed diffusely symmetric hyperintensity in the white matter (WM), pronominally the periventricular WM, on FLAIR and T2 weighted sequences. At 16 weeks postoverdose, he presented improvement both cognitive and motor symptoms, lasting deficits in frontal-executive functions.DiscussionDPHL is characterized by similar clinical and neuroimaging features regardless of the initial insult. The mean lucid interval coincides with the replacement half-life for myelin related lipids and proteins. Prolonged mild-to-moderate hypo-oxygenation of WM is thought to disrupt myelin turnover. It appears probable that these were responsible for DPHL in our patient rather than a direct toxicity.ConclusionDPHL can be diagnosed when clinical history, laboratory assessments and MRI findings are concordant. DPHL requires extensive support care and carries a relatively good prognosis.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Postoperative cerebral air embolism with delayed abnormal brain MRI findings

eNeurologicalSci ◽

10.1016/j.ensci.2020.100305 ◽

2021 ◽

Vol 22 ◽

pp. 100305

Author(s):

Yuwa Oka ◽

Koji Tsuzaki ◽

Mayu Kamei ◽

Akihiro Kikuya ◽

Toshiaki Hamano

Keyword(s):

Brain Mri ◽

Air Embolism ◽

Mri Findings ◽

Cerebral Air Embolism ◽

Abnormal Brain

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Correlation of PET/CT and Brain MRI Findings in Human African Trypanosomiasis Encephalitis

Clinical Nuclear Medicine ◽

10.1097/rlu.0000000000003801 ◽

2021 ◽

Vol Publish Ahead of Print ◽

Author(s):

Licia Pacheco Luna ◽

Zahra Meleki ◽

Amirali Modir Shanechi ◽

Vivek Yedavalli ◽

Ali Cahid Civelek

Keyword(s):

Human African Trypanosomiasis ◽

Brain Mri ◽

African Trypanosomiasis ◽

Mri Findings ◽

Pet Ct

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Superficial siderosis: Case report and literature review

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh1304219k ◽

2013 ◽

Vol 141 (3-4) ◽

pp. 219-222

Author(s):

Nikola Kresojevic ◽

Igor Petrovic ◽

Natasa DragasevicMiskovic ◽

Vladimir Kostic

Keyword(s):

Spinal Cord ◽

Hearing Loss ◽

Mr Imaging ◽

Brain Mri ◽

Therapeutic Interventions ◽

Superficial Siderosis ◽

Mri Findings ◽

Hand Tremor ◽

Hemosiderin Deposition ◽

Clinical Triad

Introduction. Superficial siderosis (SS) is caused by chronic subarachnoid bleeding and is characterized by free iron and hemosiderin deposition along the pial and subpial structures of central nervous system. SS leads to progressive and irreversible CNS damage. The most common causes of chronic subarachnoidal bleeding are tumors, head and spinal cord trauma, arteriovenous malformations and aneurysms. SS is characterized by clinical triad: sensorineural hearing loss, cerebellar ataxia and piramydal signs. Brain MR imaging is the investigation of choice for the diagnosis of SS. Typical findings include hypointensities seen on T2?weighted MR imaging around the brain, cerebellum, brain stem, spinal cord, VIII cranial nerve and atrophy of cerebellum and medulla. Case Outline. A 71-year?old female patient noticed hand tremor in the middle of the third decade of life, and later slowly progressive bilateral hearing loss. At the age of 64 she developed un? steady gate, hand clumsiness and dysarthria, to became incapable of independent walking and standing five years later. Clinical course and brain MRI findings were typical for SS, but additional investigation did not reveal the couse of subarahnoidal bleeding. Conclusion. SS represents a rare and under?recognized condition that must be considered in all patients with cerebellar syndrome of unknown cause. Early diagnosis of SS in some cases with identified cause of chronic bleeding allowes therapeutic interventions that may prevent further progression of the disease.

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