scholarly journals Hallervorden-Spatz Syndrome: Case Report of a Typical Form

2021 ◽  
Vol 3 (1) ◽  
pp. 025-026
Author(s):  
Leandro de Holanda da Rocha ◽  
Milena Nunes Alves de Sousa ◽  
Paulo Roberto Veiga Quemelo ◽  
Paulo Antônio Farias Lucena

Hallervorden-Spatz syndrome is a rare neurodegenerative disease, related to mutations in a gene located on chromosome 20p13. Hallervorden-Spatz syndrome is characterized by iron accumulation in the basal ganglia, which leads to variable neurologic manifestations. It is reported the case of a 6 years old male patient, with history of neuro psycho motor development involution noticed since 1 year and 5 months of age and progressive development of dystonia, mostly on upper limbs and neck. Brain Magnetic Resonance Imaging (MRI) revealed bilaterally symmetric signal changes in globus pallidus and in the posterior limb of the internal capsule, findings that suggest neurodegenerative disease with iron accumulation or metabolic disease.

2018 ◽  
Vol 25 (1) ◽  
pp. 122-125 ◽  
Author(s):  
Marianthi Breza ◽  
Nikoletta Smyrni ◽  
Georgios Koutsis ◽  
Evangelos Anagnostou ◽  
John Tzartos ◽  
...  

A 13-year-old girl presented with a 5-day history of oscillopsia. On examination, ocular flutter and mild cerebellar signs were found. Brain magnetic resonance imaging (MRI) revealed four periventricular and subcortical non-enhancing lesions. Cerebrospinal fluid (CSF) oligoclonal bands were negative. Neuroblastoma or other malignancies were not found. She responded well to a corticosteroid–intravenous immunoglobulin (IVIG) combination and remained symptom-free for 3 years until presenting again with isolated ocular flutter. Brain MRI at this time remained atypical for classic multiple sclerosis (MS) with a predominance of juxtacortical demyelinating lesions. CSF was positive for oligoclonal bands. Serum myelin oligodendrocyte glycoprotein (MOG) antibodies were present. Ocular flutter can be the presenting feature of MOG antibody–associated pediatric demyelination.


2005 ◽  
Vol 11 (3) ◽  
pp. 364-366 ◽  
Author(s):  
J A Cabrera-Gómez ◽  
N Echazabal-Santana ◽  
Y Real-González ◽  
K Romero García ◽  
Manuel Junior Sobrinho ◽  
...  

The revision of MEDLINE from 1966 to 2003 did not report any association between multiple sclerosis (MS) and Melkersson—Rosenthal syndrome (MRS). This is a case report of a 51-year-old woman, with history of four recurrent Bell’s palsies. In 1999 she developed a right facial paralysis due to a supranuclear pyramidal lesion with right monoparesis. The family history showed five relatives with recurrent Bell’s paralysis and plicata tongue. Physical examination: right Bell’s paralysis, left supranuclear facial paralysis, furrowed tongue, right hemiparesis with pallor of the optic disks. Brain magnetic resonance imaging (MRI) demonstrated the typical lesions of MS and CSF oligoclonal bands. This is the first observation of a patient with hereditary MRS and MS. The link between both diseases is discussed.


2021 ◽  
Vol 12 ◽  
Author(s):  
Ying Li ◽  
Yuanfeng Miao ◽  
Meng Yu ◽  
Ying Zhu ◽  
Zeyin Liang ◽  
...  

Background: There are few reported cases of posterior reversible encephalopathy syndrome (PRES) combined with essential thrombocythemia (ET). We report a case of PRES-like syndrome in ET.Case Report: A 60-year-old man with a history of hypertension and thrombocythemia presented with progressive visual loss after waking up; and neurological examination showed pupils were 3 mm and equally reactive to light, which suggested cortical blindness. Brain magnetic resonance imaging (MRI) revealed restricted diffusion in diffusion-weighted imaging (DWI) in the bilateral parietal and occipital lobes. Routine blood tests revealed a platelet count of 1,044 × 109/L. ET was diagnosed after exclusion of other causes. Electroencephalography (EEG) showed periodic triphasic waves in the occipital region. The lesions of the parietal and occipital lobes on MRI and periodic triphasic waves of EEG disappeared quickly, and patient's vision returned to normal after the treatment with hydroxyurea and sodium bicarbonate. The patient experienced hallucinatory palinopsia during the recovery of vision.Conclusion: ET may be a risk factor for PRES.


2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Yukiko Tabuchi ◽  
Tetsuyuki Yasuda ◽  
Hideaki Kaneto ◽  
Tetsuhiro Kitamura ◽  
Junji Kozawa ◽  
...  

We report a case of 42-year-old male patient with hypogonadotropic hypogonadism. He suffered from general fatigue and erectile dysfunction after the treatment with transdermal fentanyl for chronic pain by traffic injury. Endocrine examinations and hormone stimulating tests showed that he had hypogonadotropic hypogonadism. Brain magnetic resonance imaging (MRI) showed no abnormal findings, and he had no past history of accounting for acquired hypogonadotropic hypogonadism. Therefore, his hypogonadism was diagnosed to be caused by opioid treatment. Although opioid-induced endocrine dysfunctions are not widely recognized, this case suggests that we should consider the possibility of endocrine dysfunctions in patients with opioid treatment.


2020 ◽  
Vol 6 (2) ◽  
pp. e14-e14
Author(s):  
Saleh Mohebbi ◽  
Mohammad Mahdi Salem ◽  
Hesam Eskandarzadeh ◽  
Ayda Sanaei ◽  
Mina Jamali

Mucormycosis, an uncommon and rapidly progressive fungal infection, is mainly seen in immunocompromised patients. However, immunocompetent individuals can also be infected. Here, we present a rapidly progressive orbito-cerebral mucormycosis in an immunocompetent patient, who had a history of entry of an insect into his eye. We report an immunocompetent patient, who had a history of entry of an insect into his eye, presented with left eye panophthalmitis, cellulitis and loss of vision. He underwent orbital exenteration. Then, mucormycosis was diagnosed and amphotericin B was initiated. Left cavernous sinus and internal carotid artery involvement were found in brain magnetic resonance imaging (MRI) and cerebrovascular accident (CVA) was diagnosed. Surgical debridement of necrotic tissue was performed, and postoperatively, our patient died following CVA. Mucormycosis, as a fatal fungal infection, requires early diagnosis, appropriate early surgical and rapid antifungal management so that successful outcome can be achieved.


Author(s):  
David Pelz ◽  
Ranjith K. Menon ◽  
Rick H. Swartz ◽  
Richard I. Aviv ◽  
Sean P. Symons

A 64-year-old man with treated hypertension presented with acute left arm and leg weakness. A brain magnetic resonance imaging (MRI) and neck magnetic resonance angiography (MRA) were performed. There was restricted diffusion in the right internal capsule posterior limb consistent with an acute lacunar infarct. The MRA demonstrated aplastic bilateral cervical vertebral arteries (V1 and V2 segments). bilaterally, a variant artery arose from the external carotid just above its origin, extended superiorly then medially, and forming the vertebral artery (V3 and V4 segments). bilaterally, the occipital artery arose from the variant artery at the juncture where it turned medially. The right variant artery terminated intracranially in the right posterior inferior cerebellar artery. The left variant artery continued intracranially to supply the basilar. The appearance was consistent with bilateral persistent proatlantal intersegmental arteries (PPIA) type II.


Author(s):  
Prajnya Ranganath ◽  
Mallikarjun Patil

AbstractThe “eye-of-the-tiger” sign in brain magnetic resonance imaging (MRI) is typically associated with neurodegeneration with brain iron accumulation disorders, especially pantothenate kinase-associated neurodegeneration. However, very similar neuroimaging findings may be seen in other neurodegenerative disorders involving the basal ganglia. We report here a patient with fucosidosis who had MRI brain findings closely resembling the “eye-of-the-tiger” sign.


2012 ◽  
Vol 25 (2) ◽  
pp. 200-205 ◽  
Author(s):  
K. Gangadhar ◽  
D. Santhosh

Disseminated cysticercosis is a rare form of cysticercosis in which the cysticerci spread throughout the body. We describe the case of a seven-year-old child with disseminated cysticercosis. He presented with a one month history of swelling of the whole body, unable to walk for one month and swelling of both eyes for 20 days. After extensive investigation from superficial musculoskeletal ultrasound B-scan of eye, brain computed tomography, brain magnetic resonance imaging (MRI), whole body MRI and pathologic biopsy, the child was diagnosed as having cysticercosis involving the brain, retina and skeletal muscles throughout the whole body.


2007 ◽  
Vol 7 (4) ◽  
pp. 101-102
Author(s):  
Warren T. Blume

Childhood Mesial Temporal Sclerosis. Ng YT, McGregor AL, Duane DC, Jahnke HK, Bird CR, Wheless JW. J Child Neurol 2006;21(6):512–517. The prevalence and clinical characteristics of mesial temporal sclerosis have not been well studied in children. All brain magnetic resonance imaging (MRI) reports of children less than 14 years of age were reviewed from two tertiary institutions. A 52-month period from one institution and a 37-month period from the other were reviewed. All reports of definite or possible mesial temporal sclerosis were noted. These patients’ MRIs were then reviewed to confirm the MRI diagnostic criteria of mesial temporal sclerosis. The charts of the patients who satisfied these criteria were reviewed in detail. Three thousand one hundred brain MRI reports were reviewed. Twenty-six reports of mesial temporal sclerosis were found. Twenty-four of the 26 films satisfied the criteria of mesial temporal sclerosis by MRI after the films were reviewed. The prevalence among all pediatric brain MRI studies was 0.77%. All patients had presented with seizures, that is, there were no “incidental” findings of mesial temporal sclerosis. Four patients had a history of febrile seizures. Mesial temporal sclerosis is an uncommon finding in children, but when it occurs, it is always associated with epilepsy. Asymptomatic mesial temporal sclerosis or mesial temporal sclerosis not associated with a seizure disorder did not occur in our series. Febrile seizures can occur in association with mesial temporal sclerosis presenting in childhood.


2019 ◽  
Vol 1 ◽  
pp. 2-6
Author(s):  
Asad Naqvi ◽  
Timothy Ariyanayagam ◽  
Mir Akber Ali ◽  
Akhila Rachakonda ◽  
Hema N. Choudur

Objective: The objective of this study was to outline a novel unique concept of secondary impingement of the muscles, myotendons, and tendons of the rotator cuff from hypertrophy as a result of strength training exercises. Methods: In this retrospective observational study, 58 patients were referred for an magnetic resonance imaging (MRI) by the orthopedic surgeon to the radiology department over a period of 1½ years. All patients gave a history of strength training exercises and presented with clinical features of rotator cuff impingement. Results: We identified features of hypertrophy of rotator cuff muscles, myotendons, and tendons in 12 of these 58 patients. This was the only abnormality on MRI. The hypertrophy of rotator cuff muscles and tendon bulk completely filling the subacromial space to the point of overfilling and resulting in secondary compressive features. Conclusion: Rotator cuff impingement is a common phenomenon that can occur with various inlet and outlet pathological conditions. However, rotator cuff impingement may also result from muscle and tendon hypertrophy from strength training regimens. Hypertrophy of the rotator cuff can result in overfilling of the subacromial space, leading to secondary impingement, which we have termed as “pseudo-impingement.”


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