Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

2021 ◽  
pp. 088307382110065
Author(s):  
Jaehyung Lim ◽  
Brian J. Shayota ◽  
Erica Lay ◽  
Sarah H. Elsea ◽  
Mir Reza Bekheirnia ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Mitochondrial Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Restriction Pattern ◽  
Spastic Diplegia ◽  
Ethylmalonic Encephalopathy ◽  
Developmental Regression ◽  
Downstream Effects ◽  
Cystic Changes

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.

Fetal brain magnetic resonance imaging and long-term neurodevelopmental impairment

2014 ◽  
Vol 125 (3) ◽  
pp. 237-240 ◽  
Author(s):  
Vladimir Banović ◽  
Snježana Škrablin ◽  
Maja Banović ◽  
Marko Radoš ◽  
Snježana Gverić-Ahmetašević ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Fetal Brain ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
Neurodevelopmental Impairment

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

2018 ◽  
Vol 33 (11) ◽  
pp. 713-717 ◽  
Author(s):  
Afnan AlGhamdi ◽  
Muhammad Talal Alrifai ◽  
Abdullah I. Al Hammad ◽  
Fuad Al Mutairi ◽  
Abdulrahman Alswaid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Case Series ◽  
Brain Magnetic Resonance Imaging ◽  
Propionic Acidemia ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Epileptiform Discharges ◽  
Magnetic Resonance Imaging Mri ◽  
Autosomal Recessive Manner ◽  
Delayed Myelination

Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia and compared the findings to those of former studies. Six of the 14 (43%) patients developed epileptic seizure, mainly focal seizures. All patients were responsive to conventional antiepileptic drugs as their seizures are controlled. The predominant electroencephalographic (EEG) findings were diffuse slowing in 43% and multifocal epileptiform discharges in 14% of the patients. In 1 patient, burst suppression pattern was detected, a pattern never before reported in patients with propionic acidemia. Brain magnetic resonance imaging (MRI) findings mainly consisted of signal changes of the basal ganglia (36%), generalized brain atrophy (43%), and delayed myelination (43%).The most common genotype in our series is the homozygous missense mutation in the PCCA gene (c.425G>A; p. Gly142Asp). However, there is no clear genotype–seizure correlation. We conclude that seizure is not an uncommon finding in patients with propionic acidemia and not difficult to control. Additional studies are needed to further elaborate on genotype–seizure correlation.

scholarly journals Monogenic Causes of Strokes

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1855
Author(s):  
Justyna Chojdak-Łukasiewicz ◽  
Edyta Dziadkowiak ◽  
Sławomir Budrewicz
Keyword(s):  
Autosomal Recessive ◽  
Genetic Factors ◽  
Autosomal Dominant ◽  
Small Vessel Disease ◽  
Clinical Phenotype ◽  
Single Gene ◽  
Monogenic Disorders ◽  
Single Gene Disorders ◽  
Appropriate Therapy

Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene diseases associated particularly with cerebral small-vessel disease, such as COL4A1 syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In this article the clinical phenotype for the most important single-gene disorders associated with strokes are presented. The monogenic causes of a stroke are rare, but early diagnosis is important in order to provide appropriate therapy when available.

scholarly journals Characteristics and Prognosis of Autoimmune Encephalitis in the East of China: A Multi-Center Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Shan Qiao ◽  
Huai-kuan Wu ◽  
Ling-ling Liu ◽  
Ran-ran Zhang ◽  
Mei-ling Wang ◽  
...  
Keyword(s):  
Poor Prognosis ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Autoimmune Encephalitis ◽  
Post Discharge ◽  
Disturbance Of Consciousness ◽  
Imaging Results ◽  
Epidemiological Characteristics

Objective: This study aimed to investigate epidemiological characteristics, clinical manifestations, and long-term outcomes of patients with autoimmune encephalitis (AE) in the east of China.Methods: From January 2015 to December 2019, 226 potential AE patients were recruited from five clinical centers, and a total of 185 patients who met the diagnostic criteria were included in the study. We retrospectively reviewed clinical features, auxiliary examinations, details of treatments, and outcomes of AE, and identified risk factors of poor prognosis. Modified Rankin Scale scores were used to evaluate neurological function, and scores of 3–6 indicated a poor-prognosis.Results: Patients with five main subtypes of AE were enrolled in the study, as follows: anti-NMDAR (79), anti-LGI1 (55), anti-CASPR2 (30), anti-GABABR (16), and anti-AMPAR (5). Among 185 patients, 58.38% (108/185) were male and 41.62% (77/185) were female. The median age at disease onset was 41 years (interquartile range, 17–62). The most common clinical manifestations of AE were seizures (146, 78.92%) and memory deficit (123, 66.49%). A total of 95 (51.35%) patients had abnormal brain magnetic resonance imaging results. Electroencephalographic findings were abnormal in 131 (70.81%) patients, and 168 (90.81%) and 26 (14.05%) patients were treated with first- and second-line immunotherapies, respectively. All surviving patients were followed-up for at least 1 year (range 12–36 months). Good clinical outcomes were achieved in 117 (63.24%), while 68 (36.76%) patients had a poor prognosis. Further, 33 (17.84%) patients relapsed and 10 (5.41%) died within 1 year post-discharge. Older patients tended to have a poorer prognosis, and the occurrence of mental behavioral disorders, movement disorders, disturbance of consciousness, central hypoventilation, and tumors were overrepresented in the poor-prognosis group.Conclusions: AE is a treatable disease, and most patients have a good prognosis. There are differences in the clinical manifestations of patients with different AE subtypes. Some with AE will relapse, and long-term follow-up is of great significance for further research.

Visualization of immature brain lesions: MR patterns of long-term outcomes. Case reports

2021 ◽  
Vol 2 (2) ◽  
pp. 94-99
Author(s):  
Anatoly V. Anikin ◽  
Milana A. Basargina ◽  
Eugeniya V. Uvakina
Keyword(s):  
White Matter ◽  
Premature Infants ◽  
Periventricular Leukomalacia ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Lesions ◽  
Gestation Period ◽  
Long Term Outcomes ◽  
Immature Brain ◽  
The Brain

The periventricular and deep white matter of the immature brain of premature infants has an increased vulnerability to various, primarily ischemic injuries. The leading mechanism of selective vulnerability of the white matter of the large hemispheres in children with a low gestation period is the lack of formation of adjacent blood circulation zones between the main arteries of the developing brain. Magnetic resonance imaging has a high sensitivity to detect damage to the brain substance, both in the acute period and in the period of long-term outcomes. Periventricular leukomalacia (PVL) is one of the variants of brain damage in premature infants and the most common term in the conclusions of diagnostic doctors (ultrasound, CT, MRI). Considering the pathomorphological criteria, not always detected changes in the white matter of the large hemispheres are PVL. Diffuse (telencephalic) gliosis and diffuse leukomalacia are ordinary and typical variants of damage to the white matter of the large hemispheres in extremely premature infants, with a gestation period of up to 30-32 weeks. In the first variant, atrophic changes predominate with a pronounced decrease in the volume of white matter and a secondary expansion of the lateral ventricles. Diffuse leukomalacia is most often mistaken for PVL, but the localization of the white matter lesion of the large hemispheres is extensive and extends beyond the peri- and paraventricular region. Clinical examples show various variants of primary non-hemorrhagic brain lesions in prematurely born children in the long-term period. The analysis of the revealed changes is carried out, taking into account current data on developing the brain and pathomorphological criteria.

Two cases of Sjogren-Larsson syndrome in the same family

1986 ◽  
Vol 67 (6) ◽  
pp. 459-459
Author(s):  
I. K. Kuzmin ◽  
R. P. Gubar ◽  
V. V. Vasilevskaya
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Epileptic Seizures ◽  
Spastic Diplegia ◽  
Variable Expression ◽  
High Penetrance ◽  
Larsson Syndrome

Sjоgren-Larsson syndrome is a hereditary disorder detected in the first months of a child's life. It is characterized by varying degrees of oligophrenia combined with spastic diplegia and congenital universal ichthyosis, and sometimes epileptic seizures, retinitis pigmentosa in the macula, dwarfism or giant growth, genital hypoplasia and anemia. Inheritance type is autosomal recessive with high penetrance and variable expression.

scholarly journals Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements

2020 ◽  
Vol 36 (2) ◽  
pp. 93-98
Author(s):  
Imane Abdelmoumen ◽  
Sandra Jimenez ◽  
Ignacio Valencia ◽  
Joseph Melvin ◽  
Agustin Legido ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Puerto Rican ◽  
Cerebellar Atrophy ◽  
Intractable Epilepsy ◽  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Pathogenic Variant ◽  
Global Developmental Delay ◽  
Neurodevelopmental Outcomes ◽  
Developmental Regression

Objective: To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting with early infantile epileptic encephalopathy (EIEE-37) with prominent movement disorder. Background: EIEE-37 is caused by biallelic loss of function variants in the FRRS1L gene, which is critical for AMPA-receptor function, resulting in intractable epilepsy and dyskinesia. Methods: A retrospective, multicenter chart review of patients sharing the same homozygous FRRS1L (p.Gly246del) pathogenic variant identified by clinical genetic testing. Clinical information was collected regarding neurodevelopmental outcomes, neuroimaging, electrographic features and clinical response to antiseizure medications. Results: Fifteen patients from 12 different families of Puerto Rican ancestry were homozygous for the FRRS1L (p.Gly246del) pathogenic variant, with ages ranging from 1 to 25 years. The onset of seizures was from 6 to 24 months. All had hypotonia, severe global developmental delay, and most had hyperkinetic involuntary movements. Developmental regression during the first year of life was common (86%). Electroencephalogram showed hypsarrhythmia in 66% (10/15), with many older children evolving into Lennox-Gastaut syndrome. Six patients demonstrated progressive volume loss and/or cerebellar atrophy on brain magnetic resonance imaging (MRI). Conclusions: We describe the largest cohort to date of patients with epileptic encephalopathy. We estimate that 0.76% of unaffected individuals of Puerto Rican ancestry carry this pathogenic variant due to a founder effect. Children homozygous for the FRRS1L (p.Gly246del) Boricua variant exhibit a very homogenous phenotype of early developmental regression and epilepsy, starting with infantile spasms and evolving into Lennox-Gastaut syndrome with hyperkinetic movement disorder.

scholarly journals Selective dorsal rhizotomy for spasticity not associated with cerebral palsy: reconsideration of surgical inclusion criteria

2013 ◽  
Vol 35 (5) ◽  
pp. E6 ◽  
Author(s):  
William C. Gump ◽  
Ian S. Mutchnick ◽  
Thomas M. Moriarty
Keyword(s):  
Cerebral Palsy ◽  
Spinal Cord Injuries ◽  
Spastic Diplegia ◽  
Inclusion Criteria ◽  
Selective Dorsal Rhizotomy ◽  
Dorsal Rhizotomy ◽  
Common Diagnosis

Children with spastic diplegia from cerebral palsy (CP) experience measurable improvement in their spasticity and motor function following selective dorsal rhizotomy (SDR). The role of this operation in the treatment of other spasticity causes is less well defined. A literature review was undertaken to survey outcomes from SDRs performed outside the CP population. Multiple sclerosis was the most common diagnosis found, accounting for 74 of 145 patients described. Selective dorsal rhizotomies have also been reported in patients with traumatic brain and spinal cord injuries, ischemic and hemorrhagic stroke, neurodegenerative disease, hypoxic encephalopathy, and other causes of spasticity. Outcomes from surgery are generally described as favorable, although postoperative assessments and follow-up times are not standardized across reports. Long-term outcomes are sparsely reported. Larger numbers of patients and more detailed outcomes data have the potential to form a basis for expanding the inclusion criteria for SDR.

Post-Partum Psychosis in Adult GM2 Gangliosidosis

1988 ◽  
Vol 153 (3) ◽  
pp. 387-389 ◽  
Author(s):  
P. Lichtenberg ◽  
R. Navon ◽  
E. Wertman ◽  
H. Dasberg ◽  
B. Lerer
Keyword(s):  
Autosomal Recessive ◽  
Post Partum ◽  
Autosomal Recessive Inheritance ◽  
Neurological Deterioration ◽  
Adult Patients ◽  
Psychiatric History ◽  
Recessive Inheritance ◽  
Gm2 Gangliosidosis ◽  
Hexosaminidase A

Adult hexosaminidase A deficiency is a form of GM2 gangliosidosis with autosomal recessive inheritance. Only 35 cases (mostly among Ashkenazic Jews) have been reported worldwide. Symptoms include, in a third of the cases, psychosis. A 27–year-old sufferer with no prior psychiatric history, developed a post-partum psychosis, with affective and hebephrenic components, 3 days following her first delivery. She responded to lithium within 10 days of initiating treatment; the full episode lasted 1 month. We conclude that lithium is the preferred treatment for psychosis in such adult patients, especially in light of possible long-term neurological deterioration caused by phenothiazines. Ashkenazic Jews with atypical neurological syndromes presenting with psychosis should be tested for hexosaminadase A deficiency.

Amiodarone neurotoxicity: the other side of the medal

Open Medicine ◽  
2014 ◽  
Vol 9 (3) ◽  
pp. 437-442 ◽  
Author(s):  
Giuliana Galassi ◽  
Eleni Georgoulopoulou ◽  
Alessandra Ariatti
Keyword(s):  
Side Effects ◽  
Brain Magnetic Resonance Imaging ◽  
P100 Latency ◽  
Sensorimotor Polyneuropathy ◽  
Mechanisms Of Toxicity ◽  
Cardiac Side Effects ◽  
Patients At Risk ◽  
Laboratory Examinations ◽  
Magnetic Resonance Imaging Mri

AbstractThe efficacy of amiodarone is tempered by its toxicity, with 50% of long-term users discontinuing the drug. The non-cardiac side effects of amiodarone may involve central and peripheral nervous system. We studied two patients treated with amiodarone for 46 and 15 months respectively. Both patients exhibited progressive distal extremity weakness, impaired perception, loss of deep reflexes. Electrophysiology identified a widespread, sensorimotor polyneuropathy with features of axonal loss and demyelination. Visual evoked potentials (VEPs) showed prolonged P100 latency bilaterally in absence of visual symptoms or brain magnetic resonance imaging (MRI) abnormalities. Extensive laboratory examinations excluded known causes of peripheral neuropathies. At 21 months after amiodarone withdrawal, P100 latency of case 1 VEPs returned to normal, whereas polyneuropathy continued to progress. In the second patient neuropathy has worsened similarly over 2 years whereas P100 latency of VEPs recovered to normal within 7 months after withdrawal of amiodarone. These findings may suggest different mechanisms of toxicity, which could be due to amiodarone pharmacokinetic and its metabolite effects on the peripheral nerves, as opposed to the optic nerve. We emphasize that use of amiodarone needs monitoring of patients at risk of development side effects.

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