Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Rocky Mountain Spotted Fever

Rocky Mountain Spotted Fever

Rocky Mountain Spotted Fever (RMSF) is a severe tick-borne illness caused by Rickettsia rickettsii, a Gram-negative, coccobacillary bacterium. This pathogen is an obligate intracellular parasite, requiring a host cell for replication. Transmission occurs through the bite of an infected tick. In the United States, the most important vectors are Dermacentor variabilis (American dog tick) and Dermacentor andersoni (Rocky Mountain wood tick), though other tick species may also serve as vectors.

Diphtheria

Diphtheria

Diphtheria is an acute, toxin-mediated infectious disease that primarily affects the upper respiratory tract. It is caused by Corynebacterium diphtheriae, a Gram-positive, pleomorphic rod that lacks spore-forming capability and exhibits a characteristic club-shaped morphology under microscopic examination. While C. diphtheriae can asymptomatically colonize mucosal surfaces, clinical disease manifests only when the bacterial strain is lysogenized by a specific β-corynephage. This phage...

Multiple Sclerosis l: Introduction

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Disorders of the Nervous Tissue

Disorders of the Nervous Tissue

Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...

Vitamins

Vitamins

Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced in our...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Efficacy, Safety, and Long-Term Outcomes of Shorter (≤ 4 Weeks) Versus Longer (> 4 Weeks) Antibiotic Therapy in Pediatric Empyema Thoracis: A Systematic Review.

Indian pediatrics·2026

Same author

Comparison of Early Intrapleural Fibrinolytic Therapy, Versus Administration After Failure of Intercostal Drainage in Children with Empyema Thoracis: A Systematic Review.

Indian pediatrics·2026

Same author

Clinical Practices for Management of Empyema Thoracis in Children: A Survey of Pediatricians in India.

Indian pediatrics·2026

Same author

Intra-Abdominal Infection Due to Caulobacteraceae and Phreatobacter in a Child with Mendelian Susceptibility to Mycobacterial Disease.

Indian journal of pediatrics·2026

Same author

Novel Pulmonary HRCT (High Resolution Computed Tomography) Phenotype of NKX 2.1 Mutation in Older Child as Cystic Interstitial Lung Disease: A Case Report.

Pediatric pulmonology·2025

Same author

Optimizing Mid-Upper Arm Circumference (MUAC) Thresholds for Screening Wasting and Severe Wasting in Children Aged 6-59 Months in Community Settings in India.

Indian journal of pediatrics·2025

Search research articles

Related Experiment Video

Updated: Jun 1, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Neurological Wilson's disease with refractory rickets.

Satnam Kaur¹, Anu Maheshwari, Satinder Aneja

¹Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India.

Journal of Pediatric Endocrinology & Metabolism : JPEM

|June 9, 2011

Summary

Wilson's disease typically involves the liver, but this case shows isolated neurological symptoms. It highlights a rare association between neurological Wilson's disease and refractory rickets, diagnosed as familial hypophosphatemic rickets.

More Related Videos

Mouse Models of Periventricular Leukomalacia

Mouse Models of Periventricular Leukomalacia

Published on: May 18, 2010

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Related Experiment Videos

Last Updated: Jun 1, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Mouse Models of Periventricular Leukomalacia

Mouse Models of Periventricular Leukomalacia

Published on: May 18, 2010

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

Neurology
Hepatology
Pediatrics
Genetics

Background:

Wilson's disease is a genetic disorder of copper metabolism, usually presenting with hepatic or neurological symptoms.
Isolated neurological Wilson's disease without overt hepatic involvement is uncommon.
Refractory rickets is a condition characterized by impaired bone mineralization, often linked to genetic or metabolic causes.

Observation:

A patient presented with severe neurological symptoms and refractory rickets.
Initial evaluations did not reveal significant hepatic dysfunction.
The patient's presentation suggested an unusual manifestation of Wilson's disease.

Findings:

The patient was diagnosed with Wilson's disease presenting solely with neurological complaints.
Refractory rickets in this case was identified as familial hypophosphatemic rickets.
This case underscores a rare co-occurrence of neurological Wilson's disease and familial hypophosphatemic rickets.

Implications:

This case expands the clinical spectrum of Wilson's disease presentations.
It emphasizes the importance of considering Wilson's disease in patients with unexplained neurological symptoms and rickets.
Early diagnosis and management are crucial for preventing severe complications in both conditions.