CT and MRI of the Brain in Inherited Neurometabolic Disorders

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S112-S131 ◽  
Author(s):  
Jan Brismar
Keyword(s):  
World Literature ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Neurometabolic Disorder ◽  
Neurometabolic Disorders ◽  
Number Of Patients ◽  
Pediatric Neurologist ◽  
The Brain ◽  
Very High ◽  
Ct And Mri

The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages. Because our hospital is the main referral center for the entire Kingdom, we examine a large number of patients who have a wide spectrum of neurometabolic disorders. We add our experience and review the world literature. Though a specific diagnosis is radiologically possible in a few disorders, the diagnosis must always be verified biochemically. When the patient is referred from a pediatric neurologist with the diagnosis of neurometabolic disorder, the aim of the neuroradiologist is to determine the amount of brain damage present and to follow the response to given therapy. When the patient is referred with a nonspecific diagnosis, such as delayed development, the aim is to suggest the possibility of a neurometabolic disorder and to initiate further evaluation including possible therapy and genetic counseling. (J Child Neurol 1992;7(Suppl):S112-S131.)

Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features

2019 ◽  
Vol 15 (3) ◽  
pp. 255-268
Author(s):  
Direnç Özlem Aksoy ◽  
Alpay Alkan
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Metabolic Pathways ◽  
Wide Spectrum ◽  
Demyelinating Diseases ◽  
Resonance Spectroscopy ◽  
Resonance Imaging ◽  
Neurometabolic Disorders ◽  
Brain Involvement ◽  
The Brain

Background: Neurometabolic diseases are a group of diseases secondary to disorders in different metabolic pathways, which lead to white and/or gray matter of the brain involvement. </P><P> Discussion: Neurometabolic disorders are divided in two groups as dysmyelinating and demyelinating diseases. Because of wide spectrum of these disorders, there are many different classifications of neurometabolic diseases. We used the classification according to brain involvement areas. In radiological evaluation, MRI provides useful information for these disseases. Conclusion: Magnetic Resonance Spectroscopy (MRS) provides additional metabolic information for diagnosis and follow ups in childhood with neurometabolic diseases.

Amyotrophic onset in GCH1 dopa-responsive dystonia

2020 ◽  
Author(s):  
Seyed Amir Hasan Habibi ◽  
Alberto Albanese ◽  
Antonio E. Elia ◽  
Paria Arfa-Fatollahkhani ◽  
Neda Hashemi
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Rapid Onset ◽  
Lower Limbs ◽  
Gtp Cyclohydrolase I ◽  
Childhood Onset ◽  
Neurometabolic Disorders ◽  
Biochemical Lesion ◽  
Myoclonus Dystonia ◽  
The Brain

  Dopa-responsive dystonia (DRD) belongs to combined dystonia syndrome (dystonia-plus syndrome)1 which encompasses non-degenerative and neurometabolic disorders characterized by combination of dystonia as the prominent sign, with another movement manifestation. Parkinsonism and myoclonus are the main disturbances accompany dystonia in the combined dystonia syndrome. Dystonia with parkinsonism includes DRD [DYT5, tyrosine hydroxylase (TH), and sepiapterin reductase (SPR)], dopamine agonist-responsive dystonia, rapid-onset dystonia parkinsonism (DYT12), and early-onset dystonia with parkinsonism (DYT16). However, dystonia combined with myoclonus is just classified as myoclonus dystonia (DYT11).2 DRD can be inherited in either autosomal dominant or autosomal recessive patterns. The autosomal dominant inheritance results in the typical phenotype of DRD, known as DYT5 or Segawa disease, which is caused by heterozygous mutations of guanosine triphosphate (GTP) cyclohydrolase I gene (GCH1). Mutations of the TH and SPR genes are responsible for autosomal recessive types of DRD.3 DYT5 is represented as progressive lower limbs dystonia with childhood-onset at the common age of 2-5 years. It shows diurnal fluctuations, which are aggravated toward the evening and alleviated by sleeping. Excellent and sustained response to the low dose of levodopa is the marked feature of DYT5 disease. Additional parkinsonism and spasticity may present later in life.4 Moreover, hemiatrophy of the brain, body, or both has been reported in patients with DRD, associated with a biochemical lesion located in basal ganglia.5 However, focal atrophy and muscle weakness rarely accompanies DRD. Interestingly, we aimed to introduce weakness and focal muscle atrophy as the onset manifestations of DRD in an elderly man misdiagnosed for about 70 years.

Pelvic schwannoma

GYNECOLOGY ◽  
2020 ◽  
Vol 22 (5) ◽  
pp. 84-86
Author(s):  
Sergei P. Sinchikhin ◽  
Sarkis G. Magakyan ◽  
Oganes G. Magakyan
Keyword(s):  
Auditory Nerve ◽  
World Literature ◽  
Morphological Study ◽  
Clinical Observation ◽  
Nerve Trunk ◽  
Practical Case ◽  
Surgical Volume ◽  
The World ◽  
Brain And Spinal Cord ◽  
The Brain

Relevance.A neoplasm originated from the myelonic sheath of the nerve trunk is called neurinoma or neurilemmoma, neurinoma, schwannoglioma, schwannoma. This tumor can cause compression and dysfunction of adjacent tissues and organs. The most common are the auditory nerve neurinomas (1 case per 100 000 population per year), the brain and spinal cord neurinomas are rare. In the world literature, there is no information on the occurrences of this tumor in the pelvic region. Description.Presented below is a clinical observation of a 30-year-old patient who was scheduled for myomectomy. During laparoscopy, an unusual tumor of the small pelvis was found and radically removed. A morphological study allowed to identify the remote neoplasm as a neuroma. Conclusion.The presented practical case shows that any tumor can hide under a clinical mask of another disease. The qualification of the doctor performing laparoscopic myomectomy should be sufficient to carry out, if necessary, another surgical volume.

A simple treatment planning strategy for patients with multiple metastases treated with Gamma Knife surgery

2006 ◽  
Vol 105 (Supplement) ◽  
pp. 2-4 ◽  
Author(s):  
James G. Douglas ◽  
Robert Goodkin
Keyword(s):  
Mr Imaging ◽  
Treatment Planning ◽  
Gamma Knife ◽  
Gamma Knife Surgery ◽  
Planning Method ◽  
Cns Metastases ◽  
Cell Lung Carcinoma ◽  
Dose Volume Histograms ◽  
Number Of Patients ◽  
The Brain

ObjectIn a substantial number of patients treated at the authors' facility for brain metastases, additional lesions are identified at the time of Gamma Knife surgery (GKS). These lesions are often widely dispersed and may number over 10, which is the maximal number of matrices that can be currently placed for treatment with Leksell Gamma-Plan 4C. The authors describe a simple planning method for GKS in patients with multiple, widely dispersed central nervous system (CNS) metastases.MethodsTwo patients presented with three to five identified recurrent metastases from non–small cell lung carcinoma and breast carcinoma after having received whole-brain radiotherapy. At the time of treatment with GKS in each patient, spoiled-gradient Gd-enhanced magnetic resonance (MR) imaging revealed substantially more metastases than originally thought, which were widely scattered throughout all regions of the brain. The authors simplified the treatment planning approach by dividing the entire CNS contents into six contiguous, nonoverlapping matrices, which allowed for the planning, calculation, and treatment of all lesions.Two patients were successfully treated with GKS for more than 10 CNS metastases by using this simple planning method. Differing peripheral doses to varied-size lesions were delivered by prescribing to different isodose curves within any given matrix when required. Dose–volume histograms showed brain doses as follows: 10% of the total brain volume received 5 to 6.4 Gy; 25% received 3.8 to 4.8 Gy; 50% received 2.7 to 3.1 Gy; and 75% received 2.2 to 2.5 Gy.Conclusions The delineation of more metastases than appreciated on the diagnostic MR imaging is a common occurrence at the time of GKS at the authors' institution. The treatment of multiple (>10), widely dispersed CNS metastases can be simplified by the placement of multiple, contiguous, non-overlapping matrices, which can be employed to treat lesions in all areas of the brain when separate matrices cannot be utilized.

Possibility that the Onset of Autism Spectrum Disorder is Induced by Failure of the Glutamine-Glutamate Cycle

2020 ◽  
Vol 14 (2) ◽  
pp. 170-174
Author(s):  
Koichi Kawada ◽  
Nobuyuki Kuramoto ◽  
Seisuke Mimori
Keyword(s):  
Autism Spectrum Disorder ◽  
Endoplasmic Reticulum ◽  
Environmental Factors ◽  
Endoplasmic Reticulum Stress ◽  
Synapse Formation ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Neurodevelopmental Disease ◽  
Number Of Patients ◽  
The Brain

: Autism spectrum disorder (ASD) is a neurodevelopmental disease, and the number of patients has increased rapidly in recent years. The causes of ASD involve both genetic and environmental factors, but the details of causation have not yet been fully elucidated. Many reports have investigated genetic factors related to synapse formation, and alcohol and tobacco have been reported as environmental factors. This review focuses on endoplasmic reticulum stress and amino acid cycle abnormalities (particularly glutamine and glutamate) induced by many environmental factors. In the ASD model, since endoplasmic reticulum stress is high in the brain from before birth, it is clear that endoplasmic reticulum stress is involved in the development of ASD. On the other hand, one report states that excessive excitation of neurons is caused by the onset of ASD. The glutamine-glutamate cycle is performed between neurons and glial cells and controls the concentration of glutamate and GABA in the brain. These neurotransmitters are also known to control synapse formation and are important in constructing neural circuits. Theanine is a derivative of glutamine and a natural component of green tea. Theanine inhibits glutamine uptake in the glutamine-glutamate cycle via slc38a1 without affecting glutamate; therefore, we believe that theanine may prevent the onset of ASD by changing the balance of glutamine and glutamate in the brain.

scholarly journals Neural Stem Cells: What Happens When They Go Viral?

Viruses ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1468
Author(s):  
Yashika S. Kamte ◽  
Manisha N. Chandwani ◽  
Alexa C. Michaels ◽  
Lauren A. O’Donnell
Keyword(s):  
Stem Cells ◽  
Neural Stem Cells ◽  
Viral Infections ◽  
Wide Spectrum ◽  
Cell Types ◽  
Developmental Abnormalities ◽  
Multipotent Progenitor Cells ◽  
The Central Nervous System ◽  
Simplex Virus ◽  
The Brain

Viruses that infect the central nervous system (CNS) are associated with developmental abnormalities as well as neuropsychiatric and degenerative conditions. Many of these viruses such as Zika virus (ZIKV), cytomegalovirus (CMV), and herpes simplex virus (HSV) demonstrate tropism for neural stem cells (NSCs). NSCs are the multipotent progenitor cells of the brain that have the ability to form neurons, astrocytes, and oligodendrocytes. Viral infections often alter the function of NSCs, with profound impacts on the growth and repair of the brain. There are a wide spectrum of effects on NSCs, which differ by the type of virus, the model system, the cell types studied, and the age of the host. Thus, it is a challenge to predict and define the consequences of interactions between viruses and NSCs. The purpose of this review is to dissect the mechanisms by which viruses can affect survival, proliferation, and differentiation of NSCs. This review also sheds light on the contribution of key antiviral cytokines in the impairment of NSC activity during a viral infection, revealing a complex interplay between NSCs, viruses, and the immune system.

scholarly journals Medical Adjuvants in the Treatment of Surgically Refractory Arteriovenous Malformations of the Head and Face: Case Report and Review of Literature

2021 ◽  
pp. 1-7
Author(s):  
Vaidya Govindarajan ◽  
Joshua D. Burks ◽  
Evan M. Luther ◽  
John W. Thompson ◽  
Robert M. Starke
Keyword(s):  
Arteriovenous Malformations ◽  
Mtor Inhibitors ◽  
Molecular Target ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
Early Results ◽  
Number Of Patients ◽  
Initiation Of Therapy ◽  
The Brain ◽  
Radiographic Improvement

<b><i>Background:</i></b> Arteriovenous malformations (AVMs) of the brain and face present unique challenges for clinicians. Cerebral AVMs may induce hemorrhage or form aneurysms, while facial AVMs can cause significant disfigurement and pain. Moreover, facial AVMs often draw blood supply from arteries providing critical blood flow to other important structures of the head which may make them impossible to treat curatively. Medical adjuvants may be an important consideration in the management of these patients. <b><i>Summary:</i></b> We conducted a systematic review of the literature to identify other instances of molecular target of rapamycin (mTOR) inhibitors used as medical adjuvants for the treatment of cranial and facial AVMs. We also present 2 cases from our own institution where patients were treated with partial embolization, followed by adjuvant therapy with rapamycin. After screening a total of 75 articles, 7 were identified which described use of rapamycin in the treatment of inoperable cranial or facial AVM. In total, 21 cases were reviewed. The median treatment duration was 12 months (3–24.5 months), and the highest recorded dose was 3.5 mg/m<sup>2</sup>. 76.2% of patients demonstrated at least a partial response to rapamycin therapy. In 2 patients treated at our institution, symptomatic and radiographic improvement were noted 6 months after initiation of therapy. <b><i>Key Messages:</i></b> Early results have been encouraging in a small number of patients with inoperable AVM of the head and face treated with mTOR inhibitors. Further study of medical adjuvants such as rapamycin may be worthwhile.

scholarly journals DJ-1 regulates the integrity and function of ER-mitochondria association through interaction with IP3R3-Grp75-VDAC1

2019 ◽  
Vol 116 (50) ◽  
pp. 25322-25328 ◽  
Author(s):  
Yi Liu ◽  
Xiaopin Ma ◽  
Hisashi Fujioka ◽  
Jun Liu ◽  
Shengdi Chen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cellular Mechanism ◽  
Loss Of Function ◽  
Wild Type ◽  
Calcium Efflux ◽  
And Function ◽  
The Brain ◽  
Early Onset Parkinson’S Disease

Loss-of-function mutations in DJ-1 are associated with autosomal recessive early onset Parkinson’s disease (PD), yet the underlying pathogenic mechanism remains elusive. Here we demonstrate that DJ-1 localized to the mitochondria-associated membrane (MAM) both in vitro and in vivo. In fact, DJ-1 physically interacts with and is an essential component of the IP3R3-Grp75-VDAC1 complexes at MAM. Loss of DJ-1 disrupted the IP3R3-Grp75-VDAC1 complex and led to reduced endoplasmic reticulum (ER)-mitochondria association and disturbed function of MAM and mitochondria in vitro. These deficits could be rescued by wild-type DJ-1 but not by the familial PD-associated L166P mutant which had demonstrated reduced interaction with IP3R3-Grp75. Furthermore, DJ-1 ablation disturbed calcium efflux-induced IP3R3 degradation after carbachol treatment and caused IP3R3 accumulation at the MAM in vitro. Importantly, similar deficits in IP3R3-Grp75-VDAC1 complexes and MAM were found in the brain of DJ-1 knockout mice in vivo. The DJ-1 level was reduced in the substantia nigra of sporadic PD patients, which was associated with reduced IP3R3-DJ-1 interaction and ER-mitochondria association. Together, these findings offer insights into the cellular mechanism in the involvement of DJ-1 in the regulation of the integrity and calcium cross-talk between ER and mitochondria and suggests that impaired ER-mitochondria association could contribute to the pathogenesis of PD.

A Report of Four Cases and a Review of the Literature

1974 ◽  
Vol 83 (4) ◽  
pp. 550-554 ◽  
Author(s):  
Gary D. Becker ◽  
Alexander M. Wernicke
Keyword(s):  
World Literature ◽  
Pathogenic Bacteria ◽  
Wide Spectrum ◽  
Carrier State ◽  
Penicillin G ◽  
Physical Finding ◽  
Agar Culture ◽  
Cervical Lymph Nodes ◽  
Procaine Penicillin ◽  
Moderate Elevation

Four cases of gonococcal pharyngotonsillitis have been presented, along with a review of the world literature. This entity is most commonly seen in those individuals practicing fellatio, i.e., females and homosexual males. The infection may be passed to the newborn by the infected genitals of the mother during birth, to the infant from adult molestation, or among sexually promiscuous children. Most gonococcal pharyngeal infections result in a carrier state, and as such, are possible reservoirs of propagated infections. When symptomatic, the most frequent complaint is a sore throat. Physical finding among symptomatic patients reveal a wide spectrum ranging from mild hyperemia of the pharynx or tonsils, to exudative tonsillitis with tender cervical lymph nodes and moderate elevation of temperature. Most authorities agree that the preferred treatment is 4.8 million units of procaine penicillin G I.M., with one gm of probenecid by mouth thirty minutes before the injection. If allergic to penicillin, tetracycline should be given, 1.5 gm by mouth stat, then 0.5 gm four times a day for a total of 9 gm. A routine blood agar culture of the throat will not reveal the presence of the gonococcus. Thayer-Martin (or Transgrow) media must be used. Failure to detect pathogenic bacteria in a routine culture may lead to either no treatment or improper treatment of a gonococcal pharyngotonsillar infection. This may result in a carrier state, or even worse, to a disseminated gonococcal infection.

Article on Tay-Sachs Disease

2021 ◽  
pp. 475-478
Author(s):  
Bhawana. B. Bhende
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Defect ◽  
Premature Death ◽  
Nerve Cells ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Physical Abilities ◽  
The Brain

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay- Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

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