scholarly journals A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

2022 ◽  
Vol 71 (6) ◽  
pp. 2247-48
Author(s):  
Muhammad Mohsin Sajjad ◽  
Sidra Yousaf
Keyword(s):  
Autosomal Recessive ◽  
Metachromatic Leukodystrophy ◽  
Memory Loss ◽  
Lower Limbs ◽  
Slight Reduction ◽  
Lysosomal Storage ◽  
Juvenile Form ◽  
Poor School Performance ◽  
History Of ◽  
Magnetic Resonance Imaging Mri

Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination. We report a case of a 15-year-old girl with 6 months history of progressive muscular weakness, poor school performance, gradual memory loss and gait disturbance. Neurological examination was grossly normal, except mild muscle wastage in both upper and lower limbs and slight reduction of power globally in all limbs. Routine bloods including a lumbar puncture was normal and the diagnosis of metachromatic leukodystrophy was made on the findings of magnetic resonance imaging (MRI) brain.

scholarly journals The Peculiar Case Of Diplopia

2020 ◽  
Vol 02 (12) ◽  
pp. 10-14
Author(s):  
Dr Anubhav Chauhan ◽  
◽  
Dr Deepak Kumar Sharma ◽  
Dr Pankaj Kumar Thakur ◽  
Dr Anchit Wap a ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Memory Loss ◽  
Resonance Imaging ◽  
Probable Case ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Case Diagnosis ◽  
Peculiar Case ◽  
Binocular Diplopia

A nineteen - year - old female presented with a history of binocular diplopia for one week. She had a history of headache, seizures, and memory loss. Magnetic Resonance Imaging (MRI) of brain revealed subependymal astrocytoma as the cause of her symptoms. Our pa tient was a probable case of tuberous sclerosis complex (TSC). Diplopia was the presenting sign in this case diagnosis.

scholarly journals Severe Spinal Infection after Vertebral Fracture Stabilization: A Narrow Escape

2020 ◽  
Vol 17 (02) ◽  
pp. 139-142
Author(s):  
Ved Prakash Maurya ◽  
D. Elangovan ◽  
V. Mourougayan ◽  
M. Ranjini
Keyword(s):  
Burst Fracture ◽  
Body Height ◽  
Titanium Implants ◽  
Lower Limbs ◽  
Fracture Stabilization ◽  
Cord Injury ◽  
Fall From Height ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Thoracolumbar Vertebra

AbstractSpinal cord injury is typical following fall from height. The thoracolumbar vertebra undergoes maximum fracture following trauma. A 26-year-old man was brought to the emergency department with a history of fall from height. Clinical examination showed weakness in lower limbs with the inability to pass urine. Magnetic resonance imaging (MRI) of spine done elsewhere was suggestive of loss of second lumbar (L2) vertebral body height with compression over the lower end of the cord. Computed tomography (CT) scan of the spine revealed a burst fracture of L2 vertebra with bone fragments protruding into the spinal canal. The patient was taken up for spinal decompression with stabilization. His hospital stay was uneventful, and two weeks after discharge he was readmitted with wound bulge over the operative site. We started him on intravenous antibiotics and did regular debridement of the wound. Later on, he underwent wound closure with flap rotation.At last follow-up, he was ambulant with bladder and bowel control. During treatment, the titanium implants were left in situ. The decision for implant removal in early wound infection is at the discretion of the operating surgeon, along with the timing and nature of the disease.

scholarly journals Lung Involvement in Gaucher Disease

2020 ◽  
Author(s):  
Mahnaz PejmanSani ◽  
Keivan GohariMoghadam ◽  
Mahbube Ebrahimpur
Keyword(s):  
Gaucher Disease ◽  
Autosomal Recessive ◽  
Pulmonary Involvement ◽  
Severe Form ◽  
Lysosomal Storage ◽  
Case Presentation ◽  
Progressive Dyspnea ◽  
History Of ◽  
Chest Ct Scan ◽  
Restrictive Pattern

Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease. Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the disease with the worst outcome. Case Presentation: A 30-year-old man and known case of Gaucher Disease presented to our clinic with history of progressive dyspnea since 8 months ago. Pulmonary function test showed restrictive pattern. Chest CT scan revealed diffuse bilateral interlobular septal thickening and small interstitial nodules with ground glass opacities in lower lobes. Conclusion: Patients with Gaucher Disease that present with progressive dyspnea may have a manifestation of interstitial or alveolar lung disease.

Juvenile Metachromatic Leukodystrophy: A Case Report from Bangladesh

2018 ◽  
Vol 4 (2) ◽  
pp. 154-157
Author(s):  
Mohammad Ala Uddin ◽  
Ariful Islam ◽  
SK Azimul Hoque ◽  
Narayan Saha
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Metachromatic Leukodystrophy ◽  
Clinical Findings ◽  
Arylsulfatase A ◽  
Adult Onset ◽  
Juvenile Form ◽  
Responsible Gene ◽  
Typical History ◽  
Autosomal Recessive Manner

Metachromatic leukodystrophy (MLD) is the neurometabolic disease caused by deficiency of enzyme arylsulfatase a resulting in deficiency of sulfatide degradation. The responsible gene is arylsulfatase A gene and is inherited in an autosomal recessive manner. MLD is characterized by three clinical subtypes, defined primarily by age at presentation such as late infantile MLD, juvenile MLD, adult onset MLD. Here we report a case of Juvenile form of MLD that was identified by means of typical history, clinical findings and supported by nerve conduction study, typical MRI of brain findings and confirmed by enzyme assay.Journal of National Institute of Neurosciences Bangladesh, 2018;4(2): 154-157

scholarly journals Acute spinal cord infarction syndrome unusually mimicking Transverse myelitis: A case report

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Aliyu Ibrahim ◽  
Aisha Shuaibu ◽  
Usman Adamu Nuhu ◽  
Hauwa A. Aliyu
Keyword(s):  
Spinal Cord ◽  
Transverse Myelitis ◽  
Sudden Onset ◽  
Dorsal Column ◽  
Lower Limbs ◽  
Spinal Cord Infarction ◽  
History Of ◽  
Extensor Plantar Response ◽  
Magnetic Resonance Imaging Mri ◽  
Repeat Examination

Anterior Spinal Cord Infarction (ASCI) syndrome typically results from ischemia that affects the anterior spinal artery territory characterized by history of sudden onset flaccid paraplegia or quadriplegia depending on the level of the lesion. We describe a 57-years-old woman with sudden onset flaccid weakness of the lower limbs and numbness of the feet of two days duration, preceded by a day history of fever and several episodes of vomiting. Examination initially revealed bilateral hypotonia, hyporeflexia and dense paraplegia, with preservation of dorsal column sensations (fine touch/2-point discrimination, position and vibration sensation). Twenty-four hours thereafter a repeat examination showed hyper-reflexia and extensor plantar response with spastic paraplegia. Thoracic spine Magnetic Resonance Imaging (MRI) revealed thinning of the spinal cord extending from T1 to T9 levels with associated widening of the thecal sac suggestive of anterior spinal cord infarction with no other signal changes seen within the substance.

Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  
Keyword(s):  
Antifungal Drugs ◽  
The Body ◽  
Lower Limbs ◽  
Lumbar Pain ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Death Case ◽  
Therapeutic Results ◽  
History Of ◽  
Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

Magnetic Resonance Imaging of Pseudo-impingement of Rotator Cuff with Strength Training

2019 ◽  
Vol 1 ◽  
pp. 2-6
Author(s):  
Asad Naqvi ◽  
Timothy Ariyanayagam ◽  
Mir Akber Ali ◽  
Akhila Rachakonda ◽  
Hema N. Choudur
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Rotator Cuff ◽  
Strength Training ◽  
Radiology Department ◽  
Resonance Imaging ◽  
Subacromial Space ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Training Exercises

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.”

Computed Tomography and Magnetic Resonance Imaging-aided Diagnosis of Primary Essential Cutis Verticis Gyrata: A Case Report with 5-year Follow-up and Review of the Literature

2019 ◽  
Vol 15 (9) ◽  
pp. 906-910
Author(s):  
Hongzhang Zhu ◽  
Shi-Ting Feng ◽  
Xingqi Zhang ◽  
Zunfu Ke ◽  
Ruixi Zeng ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Three Dimensional ◽  
Stable Condition ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Cutis Verticis Gyrata ◽  
Essential Form ◽  
History Of ◽  
Magnetic Resonance Imaging Mri

Background: Cutis Verticis Gyrata (CVG) is a rare skin disease caused by overgrowth of the scalp, presenting as cerebriform folds and wrinkles. CVG can be classified into two forms: primary (essential and non-essential) and secondary. The primary non-essential form is often associated with neurological and ophthalmological abnormalities, while the primary essential form occurs without associated comorbidities. Discussion: We report on a rare case of primary essential CVG with a 4-year history of normal-colored scalp skin mass in the parietal-occipital region without symptom in a 34-year-old male patient, retrospectively summarizing his pathological and Computer Tomography (CT) and magnetic resonance imaging (MRI) findings. The major clinical observations on the CT and MR sectional images include a thickened dermis and excessive growth of the scalp, forming the characteristic scalp folds. With the help of CT and MRI Three-dimensional (3D) reconstruction techniques, the characteristic skin changes could be displayed intuitively, providing more evidence for a diagnosis of CVG. At the 5-year followup, there were no obvious changes in the lesion. Conclusion: Based on our observations, we propose that not all patients with primary essential CVG need surgical intervention, and continuous clinical observation should be an appropriate therapy for those in stable condition.

scholarly journals Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report

2021 ◽  
Vol 49 (4) ◽  
pp. 030006052110059
Author(s):  
Xinwen Zhang ◽  
Shaozhi Zhao ◽  
Hongwei Liu ◽  
Xiaoyan Wang ◽  
Xiaolei Wang ◽  
...  
Keyword(s):  
Amino Acids ◽  
Lysosomal Storage Disorder ◽  
Autosomal Recessive ◽  
Signs And Symptoms ◽  
Lysosomal Storage ◽  
Loss Of Function ◽  
Wild Type ◽  
Single Nucleotide ◽  
Whole Exome ◽  
Exon 1

Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with an autosomal recessive mode of inheritance. Here, we describe a 4-year-old Chinese boy with signs and symptoms of fucosidosis but his parents were phenotypically normal. Whole exome sequencing (WES) identified a novel homozygous single nucleotide deletion (c.82delG) in the exon 1 of the FUCA1 gene. This mutation will lead to a frameshift which will result in the formation of a truncated FUCA1 protein (p.Val28Cysfs*105) of 132 amino acids approximately one-third the size of the wild type FUCA1 protein (466 amino acids). Both parents were carrying the mutation in a heterozygous state. This study expands the mutational spectrum of the FUCA1 gene associated with fucosidosis and emphasises the benefits of WES for accurate and timely clinical diagnosis of this rare disease.

scholarly journals Sirenomelia: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Asiyeh Shojaee ◽  
Firooze Ronnasian ◽  
Mahdiyeh Behnam ◽  
Mansoor Salehi
Keyword(s):  
Case Reports ◽  
Three Dimensional ◽  
First Trimester ◽  
Mendelian Inheritance ◽  
Lower Limbs ◽  
Congenital Deformity ◽  
White Family ◽  
Her Family ◽  
Caudal Regression ◽  
History Of

AbstractBackgroundSirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000–70,000 pregnancies. Sirenomelia is mainly characterized by the fusion of lower limbs and is widely associated with severe urogenital and gastrointestinal malformations. The presence of a single umbilical artery derived from the vitelline artery is the main anatomical feature distinguishing sirenomelia from caudal regression syndrome. First-trimester diagnosis of this disorder and induced abortion may be the safest medical option. In this report, two cases of sirenomelia that occurred in an white family will be discussed.Case presentationWe report two white cases of sirenomelia occurring in a 31-year-old multigravid pregnant woman. In the first pregnancy (18 weeks of gestation) abortion was performed, but in the third pregnancy (32 weeks) the stillborn baby was delivered by spontaneous vaginal birth. In the second and fourth pregnancies, however, she gave birth to normal babies. Three-dimensional ultrasound imaging showed fusion of the lower limbs. Neither she nor any member of her family had a history of diabetes. In terms of other risk factors, she had no history of exposure to teratogenic agents during her pregnancy. Also, her marriage was non-consanguineous.ConclusionThis report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring.

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