scholarly journals Fahr syndrome associated with post-thyroidectomy hypoparathyroidism

2021 ◽  
Author(s):  
Isabela Silva Souza ◽  
Beatriz Cassarotti ◽  
Lucas de Oliveira Pinto Bertoldi ◽  
Alana Strucker Barbosa ◽  
Eduardo Silveira Marques Branco ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Early Recognition ◽  
Clinical Manifestations ◽  
Endocrine Disorders ◽  
Laboratory Examinations ◽  
The Brain ◽  
Intravenous Calcium ◽  
Fahr Syndrome

Context: Fahr’s syndrome is a rare disorder characterized by bilateral and symmetrical abnormal calcifications in basal ganglia and cerebral cortex. Those calcified deposits are due to changes in calcium and phosphorus metabolisms that can be caused by endocrine disorders, mitochondrial myopathies, dermatological and infectious diseases. Clinical manifestations may include a variety of extrapyramidal, cerebelar and neuropsychiatric syndromes. Case report: This study describes a 75-year-old female patient that underwent total thyroidectomy in 1985 due to a multinodular goiter and presented postsurgical hypoparathyroidism. The patient missed follow-up apppoointments with Endocrinology and stopped treating her parathyroid condition. Some time later, she presented with change in behavior, drowsiness, paraesthesias, limb spasms and seizures. A CT scan of the brain was performed, showing multiple and extensive calcifications reaching the cerebellar hemispheres, basal ganglia, thalamus and white subcortical substance symmetrically. Laboratory examinations revealed hypocalcemia, hyperphosphatemia, and low parathyroid hormone (PTH) levels. Intravenous calcium gluconate was used to corret the Ca/P dysfunction. Additionally, appropriate antiepileptic drugs for seizures were used. She presented with progressive improvement of symptoms after treatment. Conclusions: This case report demonstrates the importance of post- thyroidectomy follow-up and early recognition of Fahr syndrome’s symptoms, which prevents the progression of neurological conditions.

Toluene-induced leukodystrophy from glue sniffing

2021 ◽  
pp. practneurol-2021-002942
Author(s):  
Yue Hui Lau ◽  
Ahmad Shahir Mawardi ◽  
Norzaini Rose Zain ◽  
Shanthi Viswanathan
Keyword(s):  
Basal Ganglia ◽  
Cognitive Decline ◽  
Early Recognition ◽  
Cerebellar Atrophy ◽  
Premature Mortality ◽  
History Of ◽  
The Brain

A 33-year-old man with a history of chronic toluene abuse through glue sniffing, developed tremors, cerebellar signs and cognitive decline. MR scan of the brain showed global cerebral and cerebellar atrophy with symmetrical T2-weighted hypointensities in the basal ganglia, thalami and midbrain. After stopping glue sniffing, his tremors, ataxia of gait, speech and cognition partially improved. Early recognition and intervention of toluene-induced leukodystrophy could prevent ongoing morbidity and premature mortality.

Torticollis as an Initial Manifestation of a Seronegative Demyelinating Disorder in a Child: A Case Report

2021 ◽  
Author(s):  
Sandesh Kini ◽  
Yellanthoor Ramesh Bhat ◽  
Lakshmikanth Halegubbi Karegowda
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Case Report ◽  
Demyelinating Disease ◽  
Oligoclonal Bands ◽  
Initial Manifestation ◽  
Demyelinating Disorder ◽  
The Brain

AbstractTorticollis refers to a condition in which the head is persistently tilted to one side, sometimes associated with pain. Torticollis in a child can be congenital or acquired. Torticollis as an initial manifestation of an underlying demyelinating syndrome is quite rare in children. Here, we report a 7-year-old girl who presented with persistent torticollis. Neuroimaging of the brain revealed features of a demyelinating disease. Further studies did not show any evidence of multiple sclerosis. Cerebrospinal fluid was negative for antiaquaporin-4 antibodies, antimyelin oligodendrocyte glycoprotein antibodies, and oligoclonal bands. A seronegative demyelinating disorder was considered. She was treated with pulsed methylprednisolone therapy. She responded well to steroids with no progression of illness during follow-up. Torticollis was partially improved.

scholarly journals Adjuvant hypofractionated partial-brain radiation therapy for pediatric Ewing sarcoma brain metastases: case report

2016 ◽  
Vol 17 (4) ◽  
pp. 434-438 ◽  
Author(s):  
Ritchell van Dams ◽  
Henry S. Park ◽  
Ahmed K. Alomari ◽  
Adele S. Ricciardi ◽  
Harini Rao ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Case Report ◽  
Ewing Sarcoma ◽  
Tumor Resection ◽  
Symptomatic Treatment ◽  
Reasonable Approach ◽  
Inflammatory Changes ◽  
Brain Radiation ◽  
The Brain

This case report demonstrates that hypofractionated partial-brain radiation therapy with limited margins is a reasonable approach following gross tumor resection of Ewing sarcoma metastases to the brain. The patient presented with 2 intracranial metastases treated with gross-total resection followed by radiation therapy to 30 Gy in 5 fractions. The patient experienced symptomatic treatment-related inflammatory changes with resolution after receiving dexamethasone. He remains alive at 21 months of follow-up with no evidence of disease.

scholarly journals Unilateral Renal Cystic Disease: A Case Report and Literature Review

2020 ◽  
Vol 8 (C) ◽  
pp. 160-163
Author(s):  
Darmadi Darmadi ◽  
Riska Habriel Ruslie ◽  
Nurlaila Qodrianti Siregar ◽  
Deli Theo ◽  
Syahrial Anas
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Specific Treatment ◽  
Family Health ◽  
Cystic Disease ◽  
Renal Cystic Disease ◽  
Health Related ◽  
Unilateral Renal Cystic Disease ◽  
Laboratory Examinations

BACKGROUND: URCD is a rare disease characterized by cysts with various sizes in a diffusely enlarged kidney without forming a distinct encapsulated mass. We present literature review and report a case of URCD in our center. The aim of the study was to report a case of unilateral renal cystic disease (URCD) in a 25-year-old female. CASE REPORT: The patient was a 25-year-old female. She came to emergency unit of Mitra Medika Amplas Hospital Medan, Indonesia, with dyspepsia associated symptoms. Physical examination and family health-related history were normal. Laboratory examinations and genetic evaluation showed no abnormalities. Ultrasonography examination revealed multiple cysts in her right kidney which was confirmed by computed tomography (CT) scan. The diagnosis of URCD was confirmed. No specific treatment was given and she was advised to do a routine follow-up. CONCLUSION: URCD may present with mild symptoms or even asymptomatic. Diagnosis is confirmed by imaging modalities with normal renal function and absence of genetic predisposition. The management is conservative. Routine follow-up is mandatory.

scholarly journals Neurodegeneration with cerebral iron accumulation: a case report

2021 ◽  
Author(s):  
Monalisa Moura Saito ◽  
Dhyego Ferreira Moreira de Lacerda ◽  
Ana Claudia Marque Gouveia de Melo ◽  
Lucas Monteiro Barros Nunes ◽  
Luana Cristina Rodrigues de Oliveira Costa ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Movement Disorders ◽  
Retinal Dystrophy ◽  
Rapid Onset ◽  
Clinical Findings ◽  
Iron Accumulation ◽  
Significant Clinical Improvement ◽  
The Brain

Introduction: NBIA is a rare disease, with a prevalence of 1/1,000,000.It is characterized by abnormal iron accumulation. Clinical findings may include progressive extrapyramidal disorders, involvement of the pyramidal, peripheral, autonomic nervous systems, superior cortical, visual and cerebellar functions. The diagnosis is made through the association of clinical findings and complementary exams. Currently, the treatment is only symptomatic, with no specific therapy. Case report: 5-year-old female, reporting involuntary movements and difficulty walking a day ago. Presented agitation and delayed neuropsychomotor development, seen since 1 year of age. On examination, dysarthria, dystonia and parkinsonian stiffness were observed. MRI of the brain showed the radiological signal “tiger’s eye” and the ophthalmological evaluation showed retinal dystrophy. Positive acanthocyte screening. NBIA’s NGS panel confirmed the diagnosis. Triexfenid was started and there was an improvement in movement disorders. In outpatient follow-up, the symptoms worsened. Levodopa was associated with the return of walking without support and ability to pick up objects. Discussion: In this case, Triexafenid 2mg/day was initially prescribed, with a slight improvement in movement disorders. Levodopa was started with the aim of improving symptoms of parkinsonian stiffness. The excellent response to the association of the drug in low doses stands out, enabling ambulation and functionality for daily activities. Conclusion: NBIA is a rare disease, with rapid onset and progression. Studies show limited benefits of levodopa in the case of PKAN. We emphasize significant clinical improvement, with a return to walking after administration of the drug.

scholarly journals Hypoglossal Nerve Palsy As an Initial Presentation of Glomus Jugulare Tumor in Patient with Breast Cancer: A Case Report and Literature Review

2021 ◽  
Vol 10 ◽  
pp. e2222
Author(s):  
Askar Ghorbani ◽  
Vahid Reza Ostovan
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Nerve Palsy ◽  
Hypoglossal Nerve ◽  
Clinical Manifestations ◽  
Glomus Jugulare Tumor ◽  
Hypoglossal Nerve Palsy ◽  
Glomus Jugulare ◽  
Work Up

Background: Glomus jugulare tumor is a rare, slow-growing, hyper-vascular paraganglioma that originates from the neural crest derivatives in the wall of the jugular bulb. The most common clinical manifestations of glomus jugulare are pulsatile tinnitus, conductive hearing loss, and hoarseness due to its vascularity and invasion of surrounding structures. Isolated hypoglossal nerve palsy as a presenting feature of the glomus jugulare is very rare. Case Report: We report a 61-year-old woman with a past medical history of breast cancer and diabetic mellitus presenting with progressive difficulty handling food in her mouth and tongue atrophy. Investigations showed skull base lesion and solitary pulmonary nodule. Further work-up led to glomus jugulare and benign solitary pulmonary fibrous tumor diagnosis, although the first impression was metastatic involvement of the jugular foramen. Endovascular embolization of the glomus jugulare was performed, but the patient refused any open surgery due to co-morbidities and the risk of operation. She had no new symptoms at the one-year follow-up, and the size of the lesion became more minor on the follow-up imaging relative to the baseline. Conclusion: Glomus jugulare tumors should be considered and surveyed in the diagnostic work-up of patients with hypoglossal nerve palsy. [GMJ.2021;10:e2222]

scholarly journals Hepatic fascioliasis: case report and review

1996 ◽  
Vol 38 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Salha Abdul-Hadi ◽  
Rosa Contretas ◽  
Claudio Tombazzi ◽  
Marta Alvarez ◽  
Maribel Melendez
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Side Effects ◽  
Clinical Manifestations ◽  
Documented Case ◽  
Human Fascioliasis ◽  
Oral Doses

A well documented case of hepatic fascioliasis (HF), successfully treated with triclabendazole, is reported. Predominant clinical manifestations were fever, marked eosinophilia and abdominal pain. Triclabendazole was given as two single oral doses of 10 mg/kg each. Neither side effects nor clinical or parasitological relapses were seen after three months of follow up Based on this experience and few other similar reports in the literature, triclabendazole might be a valid therapeutical alternative in the treatment of human fascioliasis.

Sjögren Reticular Dystrophy of the Retinal Pigment Epithelium: A Case Report

2003 ◽  
Vol 13 (5) ◽  
pp. 491-495
Author(s):  
M. Rinaldi ◽  
A. Villani ◽  
M. Borrelli ◽  
S. Russo ◽  
L. Cotticelli
Keyword(s):  
Case Report ◽  
Retinal Pigment Epithelium ◽  
Late Onset ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Clinical Manifestations ◽  
Computerized Perimetry ◽  
Fundus Photographs ◽  
First Time

Purpose To describe the clinical manifestations in a patient with Sjögren reticular dystrophy of the retinal pigment epithelium, and the evolution of the disease over a 20-year follow-up period. Case Report A 45-year-old woman with Sjögren reticular dystrophy of the retinal pigment epithelium was seen for the first time in 1983; the patient underwent 20 years of annual check-ups. Results Over the follow-up period, fundus photographs, computerized perimetry, electroretinogram, and electro-oculogram findings had either normal or slightly subnormal outcome. Conclusions The results confirm that this disease involves only the retinal pigment epithelium and should not be considered a central tapeto-retinal degeneration or late onset retinopathy.

scholarly journals Malignant Transformation of Liver Cysts Into Cholangiocarcinoma During Follow-up: Potential Dangers of Liver Cysts

2021 ◽  
Author(s):  
Fu-sheng Liu ◽  
Ke-lu Li ◽  
Yue-ming He ◽  
Zhong-lin Zhang ◽  
Yu-feng Yuan ◽  
...  
Keyword(s):  
Cyst Wall ◽  
Clinical Manifestations ◽  
Liver Cyst ◽  
Common Disease ◽  
Case Presentation ◽  
Liver Cysts ◽  
Cystic Tumors ◽  
Laboratory Examinations ◽  
Malignant Changes

Abstract Background: The liver cyst is a common disease in hepatobiliary surgery. Most patients have no apparent symptoms and are usually diagnosed accidentally during imaging examinations. The vast majority of patients with liver cysts follow a benign course, with very few serious complications and rare reports of malignant changes. Case Presentation: We present two cases of liver cysts that evolved into intrahepatic tumors during the follow-up process. The first patient had undergone a fenestration and drainage operation for the liver cyst, and the cancer was found at the cyst’s position in the third year after the procedure. Microscopically, bile duct cells formed the cyst wall. Tumor cells can be seen on the cyst wall and its surroundings to form adenoid structures of different sizes, shapes, and irregular arrangements, some of which are arranged in clusters. The second patient was regularly rechecked after discovering liver cysts, and a new mass appeared very close to the cyst. The clinical manifestations and laboratory examinations of the two patients lacked specificity, the preoperative diagnosis was unclear, and the postoperative pathology confirmed cholangiocarcinoma.Conclusions: Our cases indicate that liver cysts may lead to the occurrence of malignant intrahepatic cholangiocarcinoma. Therefore, follow-up of particular liver cysts is necessary, and the differential diagnosis of the intrahepatic cystic tumors needs to include cholangiocarcinoma.

scholarly journals Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

2017 ◽  
Vol 74 (2) ◽  
pp. 184-188 ◽  
Author(s):  
Dejan Marinkovic ◽  
Tamara Dragovic ◽  
Sasa Kikovic ◽  
Snezana Kuzmic-Jankovic ◽  
Zorana Djuran ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Neurodegenerative Disorder ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Intravenous Rehydration ◽  
Fahr’S Syndrome ◽  
Appropriate Treatment ◽  
Brain Calcification ◽  
Neuropsychiatric Manifestations

Introduction. Fahr?s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification. It is associated with neuropsychiatric manifestations and gradually progressive cognitive impairment. Fahr's syndrome is the secondary form of brain calcification that is caused by various metabolic, infectious, or degenerative diseases. Case report. We presented a middle-aged male with Fahr's syndrome due to primary idiopathic hypoparathyroidism. Clinical diagnosis was based on signs and symptoms of hypocalcemia, progressive neuropsychiatric illnesses, laboratory evidence of hypoparathyroidism, and radiological signs of calcifications in the basal ganglia. The patient improved after only a few days of intravenous rehydration and calcium substitution, followed by oral supplemental calcitriol. Conclusion. Timely recognition of idiopathic and iatrogenic hypoparathyroidism allows appropriate treatment that can prevent the development and clinical manifestations of Fahr?s syndrome and potentially slow its progression.

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