A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency

2018 ◽  
Vol 50 (01) ◽  
pp. 051-053 ◽  
Author(s):  
Serdar Ceylaner ◽  
Rıdvan Akın ◽  
Özlem Ünal
Keyword(s):  
Glutamine Synthetase ◽  
Clinical Findings ◽  
Resonance Imaging ◽  
Glutamine Concentration ◽  
Careful Evaluation ◽  
Synthetase Deficiency ◽  
Whole Exome ◽  
Magnetic Resonance Imaging Mri ◽  
Nicotinamide Treatment

AbstractMutations in the human GLUL gene, which encodes the enzyme glutamine synthetase (GS), may cause congenital glutamine synthetase deficiency. The disease was first described in 2005 and only three patients have been reported to date. We report a fourth patient suffering from congenital GS deficiency who was found to have some distinctive clinical findings. The patient was a 30-month-old girl who was referred to us due to developmental delay and seizures which began at 5 months of age. She was seizure free for 5 months with valproic acid and vigabatrin. At presentation, she was found to have microcephaly and hypotonia. Her plasma glutamine concentration was near normal and she had mild hyperammonemia. Cranial magnetic resonance imaging (MRI) showed mild changes. Whole exome sequencing (WES) revealed a homozygous c.121C > T (p.R41C) (p.Arg41Cys) pathogenic variant of the GLUL gene. The diagnosis of this patient underlines the importance of careful evaluation of patients with borderline low glutamine levels. Treatment was begun with L-glutamine and nicotinamide and biochemical improvements have been observed at 6 months of follow-up. The outcome of this patient may provide important data about the effectiveness of glutamine and nicotinamide treatment in patients with congenital GS deficiency.

Pregnancy luteoma: a rare presentation and expectant management

2018 ◽  
Vol 7 (2) ◽  
Author(s):  
Sinem Ayse Duru Coteli ◽  
Gokcen Orgul ◽  
Mehmet Coskun Salman
Keyword(s):  
Surgical Intervention ◽  
Hormone Secretion ◽  
Expectant Management ◽  
Clinical Findings ◽  
Resonance Imaging ◽  
Successful Management ◽  
Rare Presentation ◽  
Pathological Evaluation ◽  
Magnetic Resonance Imaging Mri

AbstractPregnancy luteoma (PL) is a rare cause of non-neoplastic masses in pregnancy. PLs are usually asymptomatic. However, general symptoms like pelvic pain, lumbalgia, constipation or virilization due to active hormone secretion can be detected as the clinical findings of these benign cysts. The definitive diagnosis of PL is most commonly possible with a pathological evaluation after surgical intervention. Therefore, we present a successful management of PL with close follow-up until delivery. Beside the suspicion of malignancy by ultrasonography and magnetic resonance imaging (MRI), the cytological evaluation of ascites revealed benign cells which was helpful to decide expectant management.

Magnetic Resonance Imaging (MRI) Diagnosis of Fetal Corpus Callosum Abnormalities and Follow-up Analysis

2021 ◽  
pp. 088307382110162
Author(s):  
Xu Li ◽  
Qing Wang
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Resonance Imaging ◽  
Neurodevelopmental Delay ◽  
Mri Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Lost To Follow Up ◽  
Singleton Pregnancies

Objectives: We analyzed the magnetic resonance imaging (MRI) manifestations of fetal corpus callosum abnormalities and discussed their prognosis based on the results of postnatal follow up. Methods: One hundred fifty-five fetuses were diagnosed with corpus callosum abnormalities by MRI at our hospital from 2004 to 2019. Gesell Development Scales were used to evaluate the prognosis of corpus callosum abnormalities after birth. Results: Corpus callosum abnormalities were diagnosed in 149 fetuses from singleton pregnancies, and 6 pairs of twins, 1 in each pair is a corpus callosum abnormality. Twenty-seven cases (27/155) were lost to follow up, whereas 128 cases (128/155) were followed up. Of these, 101 cases were induced for labor, whereas 27 cases were born naturally. Among the 27 cases of corpus callosum abnormality after birth, 22 cases were from singleton pregnancies (22/27). Moreover, 1 twin from each of 5 pairs of twins (5/27) demonstrated corpus callosum abnormalities. The average Gesell Development Scale score was 87.1 in 19 cases of agenesis of the corpus callosum and 74.9 in 3 cases of hypoplasia of the corpus callosum. Among the 5 affected twins, 2 had severe neurodevelopmental delay, 2 had mild neurodevelopmental delay, and 1 was premature and died. Conclusion: The overall prognosis of agenesis of the corpus callosum is good in singleton pregnancies. Hypoplasia of the corpus callosum is often observed with other abnormalities, and the development quotient of hypoplasia of the corpus callosum is lower compared with agenesis of the corpus callosum. Corpus callosum abnormalities may occur in one twin, in whom the risk may be increased.

scholarly journals Rapidly Progressive Spontaneous Spinal Epidural Abscess

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Abdurrahman Aycan ◽  
Ozgür Yusuf Aktas ◽  
Feyza Karagoz Guzey ◽  
Azmi Tufan ◽  
Cihan Isler ◽  
...  
Keyword(s):  
Epidural Abscess ◽  
Delayed Diagnosis ◽  
Clinical Findings ◽  
Neurological Deficits ◽  
Spinal Epidural Abscess ◽  
Low Back ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Paraspinal Abscess ◽  
Spinal Epidural

Spinal epidural abscess (SEA) is a rare disease which is often rapidly progressive. Delayed diagnosis of SEA may lead to serious complications and the clinical findings of SEA are generally nonspecific. Paraspinal abscess should be considered in the presence of local low back tenderness, redness, and pain with fever, particularly in children. In case of delayed diagnosis and treatment, SEA may spread to the epidural space and may cause neurological deficits. Magnetic resonance imaging (MRI) remains the method of choice in the diagnosis of SEA. Treatment of SEA often consists of both medical and surgical therapy including drainage with percutaneous entry, corpectomy, and instrumentation.

Magnetic Resonance Imaging in the Diagnosis of Disruption of the Posterior Tibial Tendon

Foot & Ankle ◽  
1987 ◽  
Vol 8 (3) ◽  
pp. 144-147 ◽  
Author(s):  
Ian J. Alexander ◽  
Kenneth A. Johnson ◽  
Thomas H. Berquist
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Soft Tissues ◽  
Diagnostic Technique ◽  
Clinical Findings ◽  
The Body ◽  
Posterior Tibial Tendon ◽  
Resonance Imaging ◽  
Posterior Tibial ◽  
Magnetic Resonance Imaging Mri

Magnetic resonance imaging (MRI), a useful technique of studying soft tissues of the body, can be very effective in assessing the integrity of tendons. Usually a patient with a complete tear of the posterior tibial tendon has characteristic physical findings. In the patient presented, MRI demonstrated a complete disruption of the posterior tibial tendon, despite the absence of the commonly associated clinical findings. In view of the difficulties encountered with attempted tenography of the completely torn posterior tibial tendon, MRI provides a sensitive alternative diagnostic technique.

scholarly journals Bone marrow abnormalities detected by magnetic resonance imaging as initial sign of hematologic malignancies

2018 ◽  
Author(s):  
Ida Sofie Grønningsæter ◽  
Aymen Bushra Ahmed ◽  
Nils Vetti ◽  
Silje Johansen ◽  
Øystein Bruserud ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Bone Marrow ◽  
Magnetic Resonance ◽  
Case Reports ◽  
Cell Types ◽  
Hematologic Malignancies ◽  
Resonance Imaging ◽  
Initial Sign ◽  
Magnetic Resonance Imaging Mri

The increasing use of radiological examination, especially magnetic resonance imaging (MRI), will probably increase the risk of unintended discovery of bone marrow abnormalities in patients where a hematologic disease would not be expected. In this paper we present four patients with different hematologic malignancies of nonplasma cell types. In all patients the MRI bone marrow abnormalities represent an initial presentation of the disease. These case reports illustrate the importance of a careful diagnostic follow-up without delay of patients with MRI bone marrow abnormalities, because such abnormalities can represent the first sign of both acute promyelocytic leukemia as well as other variants of acute leukemia.

scholarly journals Multifocal Balo's Concentric Sclerosis in Children: Report of a Case and Review of Literature

2017 ◽  
Vol 08 (S 01) ◽  
pp. S136-S138
Author(s):  
Sanjeev Kumar Bhoi ◽  
Suprava Naik ◽  
Jayantee Kalita ◽  
U. K. Misra
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Acute Disseminated Encephalomyelitis ◽  
Review Of Literature ◽  
Resonance Imaging ◽  
Concentric Pattern ◽  
Baló’S Concentric Sclerosis ◽  
Magnetic Resonance Imaging Mri ◽  
Post Infectious

ABSTRACTBalo's concentric sclerosis (BCS) is a rare demyelinating lesion considered to be a variant of multiple sclerosis (MS). On magnetic resonance imaging (MRI) Balo's concentric sclerosis shows the typical concentric pattern. We report a case of 10 year old child with BCS who presented as post infectious acute disseminated encephalomyelitis (ADEM). He is asymptomatic and had no relapse after 6 years of follow-up.

scholarly journals Short-lasting unilateral neuralgiform headache with autonomic symptoms associated with idiopathic hypertrophic pachymeningitis

2018 ◽  
Vol 1 ◽  
pp. 251581631879054
Author(s):  
J Matthijs Biesbroek ◽  
Dirk R Rutgers ◽  
Sander van Gulik ◽  
Catherina JM Frijns
Keyword(s):  
Brain Mri ◽  
Resonance Imaging ◽  
Hypertrophic Pachymeningitis ◽  
Trigeminal Autonomic Cephalalgia ◽  
Autonomic Symptoms ◽  
Meningeal Inflammation ◽  
Magnetic Resonance Imaging Mri ◽  
Multiple Episodes ◽  
Rule Out

Short-lasting unilateral neuralgiform headache with autonomic symptoms (SUNA) is a rare form of trigeminal autonomic cephalalgia. SUNA is frequently associated with a trigeminal neurovascular conflict and rarely occurs secondary to other intracranial pathology. We report a patient with SUNA that was associated with ipsilateral meningeal inflammation caused by idiopathic hypertrophic pachymeningitis (HP). During the 9-year follow-up, she experienced multiple episodes of SUNA, most of which occurred during exacerbations of the pachymeningitis. This is the third case of SUNA associated with HP reported in the literature. Based on this observation, we suggest that in patients presenting with SUNA, besides dedicated magnetic resonance imaging (MRI) of the trigeminal nerve, gadolinium-enhanced brain MRI should be performed to rule out HP.

scholarly journals Pineocytoma with diffuse dissemination to the leptomeninges

Rare Tumors ◽  
2011 ◽  
Vol 3 (4) ◽  
pp. 163-165 ◽  
Author(s):  
Caitlin Gomez ◽  
Jeffrey Wu ◽  
Whitney Pope ◽  
Harry Vinters ◽  
Antonio DeSalles ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Stereotactic Radiotherapy ◽  
Leptomeningeal Dissemination ◽  
Resonance Imaging ◽  
Pineal Parenchymal Tumors ◽  
Craniospinal Radiation ◽  
Long Term Follow Up ◽  
Magnetic Resonance Imaging Mri

Pineal parenchymal tumors are rare. Of the three types of pineal parenchymal tumors, pineocytomas are the least aggressive and are not known to diffusely disseminate. In this paper, we report the successful treatment of a case of pineocytoma with diffuse leptomeningeal relapse following initial stereotactic radiotherapy. A 39-year-old female presented with headaches, balance impairment, urinary incontinence, and blunted affect. A pineal mass was discovered on magnetic resonance imaging (MRI). A diagnosis of pineocytoma was established with an endoscopic pineal gland biopsy, and the patient received stereotactic radiotherapy. Ten years later, she developed diffuse leptomeningeal dissemination. The patient was then successfully treated with craniospinal radiation therapy. Leptomeningeal spread may develop as late as 10 years after initial presentation of pineocytoma. Our case demonstrates the importance of long-term follow-up of patients with pineal parenchymal tumors following radiation therapy, and the efficacy of craniospinal radiation in the treatment of leptomeningeal dissemination.

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